Rarity Life Issue 7

Living your best LIFE

Rarity

Hello,

As the summer draws to a close what could be more perfect then taking a moment or two to sit and enjoy all that our seventh issue of Rarity Life has to offer! As always, we are so proud to be able to share with you the experiences and stories of people who have lived experience of cancer, rare disease and disability. We hope that you enjoy reading it as much as we have enjoyed working on it.

Although our experiences might be individually rare, together we have the opportunity to be heard as one, to make our voices loud enough to be heard. Because the rare disease, disability and cancer communities are representative of all communities, of shared human experience, connection and hope.

Thank you to all our wonderful contributors, and of course to you our readers! Please do let us know what you think, and if you would like to partner with us in any way, or have a story to share please do get in touch.

Ceridwen Hughes

Same but Different

MEET THE TEAM

Ilmarie Braun Katy Parry Anne Dewhurst

Claire Li Gareth Jones George Irwin

Ceridwen Hughes

4 Style What matters most with Megan McClay

16 Don’t be scared with Mark Dewhurst

My life

18 26 70

A never ending love with Megan & Dimitar

The inspiring journey of Zayd a brave 5-year-old battling MCOPS12 contributed by Sadia Choudhry

Humour is our medicine in conversation with Michael and Paul Atwal-Brice

Accessible travel

42

Roman holiday accessible city breaks to the Eternal City

SbD focus

46

Cost of living spotlight 2023

Nikki’s story

58 76

Health & wellbeing Autumnal hygge

Back to school with adaptive school clothing

Science & technology

62

32 CEO focus

with Mark Dewhurst The mental health of parent carers by Anne Dewhurst 40 50

Driving change in conversation with Nick Sireau

84

Just because I can’t speak it doesn’t mean I have nothing to say in conversation with Suzanne Martin, Ace Centre

5 questions with

5 questions with Alex Braun

87 Directory

The healing power of creativity in conversation with Samantha Hickman, MA AThR

WHAT MATTERS MOST

We are so honoured that Megan McClay agreed to work with us as part of our upcoming ‘What Matters Most’ pilot project, where we explore the stories around end-of-life care. Megan was diagnosed with Ocular Melanoma in 2020, at the age of just 26. More recently she has learnt that the condition has spread to her liver and gives her a limited life expectancy. As she begins to prepare for the end of her days she spoke to us about her thoughts and feelings at such a tough time.

Read more about Megan’s story here.

www.samebutdifferentcic.org.uk

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“To me, what matters most is defining what your definition of success and quality time is, and not letting anybody else influence that.”

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Megan McClay will take part in our ‘What matters most?’ project

Photography by Ceridwen Hughes

A NEVER ENDING LOVE

At the age of just 26 years old, Megan was diagnosed with stage one ocular melanoma or uveal melanoma.

“It was just like a little flashing light in the corner of my eye, which I ignored for around two weeks, I thought it might be a migraine. I called an optician who told me to go to A&E. As soon as the A&E team looked at it, they referred me to a specialist and then they diagnosed me.”

Megan saw a professor at Sheffield Hospital who suspected it was ocular melanoma based on the characteristics that were showing but the team wasn’t 100% sure. There is a type of benign tumour that looks very similar, so further testing was needed. Photodynamic therapy was performed, and the doctors knew that if it responded to that, it was ocular melanoma and not benign. The tumour reacted to the therapy which confirmed

it was ocular melanoma. To begin with, it began to shrink significantly as a result of the photodynamic therapy but then, unfortunately, it stopped responding. Megan went on to another treatment called stereotactic radiotherapy, which caused her to go blind in her left eye.

“If I’m completely honest, in the very beginning, I didn’t understand the severity of the diagnosis at all. Of course, I knew that a cancer diagnosis is bad, but when you look at the tumour it’s tiny – just millimetres. In my mind, I imagined you can treat it and move on unscathed. I was naive, very naive. I didn’t understand the severity of it. Of course, receiving the diagnosis was a blow but they kept telling me ‘We found it really early’. They kept reiterating how small it was. It wasn’t until I started doing research myself and found the charity OcuMel that I learned I had around a 50% chance of this

spreading to my liver. At this moment I realised it was much more serious than I had initially imagined.”

Around a year after her first diagnosis, she was informed that the ocular melanoma had spread to her liver. Ocular melanoma can be symptomless, and Megan thinks it is very important to not neglect getting regular eye tests done. Although she had symptoms, usually those that remain symptomless go undetected until it’s already metastasized to the liver. If this happens you can become very poorly, very quickly.

After receiving immunotherapy treatment called tebentafusp, which was tough both physically and mentally, she heard about a pioneering treatment called chemosaturation. The chemosaturation treatment is a trial and has only been around since 2019. Despite its relative newness, the treatment was approved by the National Institute for Health and Care Excellence (NICE) in 2021. Dimitar, her partner, says it is “the best possible option that we have found” for a treatment that can prolong life. The treatment means they cannot do any physical surgery, so it must be all biochemical.

Megan has been fundraising for her chemosaturation treatment. It involves isolating the liver and cutting it off from the rest of the body using a medical device. It then saturates it with an agent that kills cancer. This treatment can be

repeated multiple times. Unfortunately, this treatment is not funded by the NHS. She had been advised that she may need up to three treatments to be effective. Megan set out on a quest to raise £80,000 for two treatments at £40,000 each, they very gratefully secured the first treatment through the family but still needed £80,000 for a further two treatments. Shortly after our interview Megan reached her fundraising goal so the treatment can now go ahead. You can still donate to Megan’s JustGiving page here to ensure that she continues to receive the best treatment possible on her journey.

Megan is taking part in our What matters most?’ creative project in conjunction with Marie Curie and Hospice UK. In this project, we will look into what matters most for those nearing the end of life and end of life, carers and healthcare professionals. This project aims to raise conversation and influence the design and delivery of services at local and national level. The aim is to make a difference for future generations living and dying in Wales.

The project will be launched on our website from 1st October 2023

Find out more

over £80,000 to fund her cancer treatment. The chemosaturation

Through the crowdfunding platform supplied by JustGiving, Megan has been able to raise

treatment was approved by NICE in 2021 but is currently unavailable on the NHS so must be undertaken at a private hospital. Due to the incredible kindness offered by members of the public who heard Megan’s story through various media outlets Megan achieved her goal of £80,000 in June 2023.

Ocular or uveal melanoma is a cancer of the eye. It arises from structures in the middle layer of the eye, the iris, choroid or ciliary body. There are approximately 600 new cases of ocular melanoma in the UK each year, making it a rare cancer. Unfortunately, around half of all patients with ocular melanoma go on to develop tumours in other organs, particularly the liver.

OcuMel UK is a registered charity supporting those affected by ocular melanoma. They help patients and families by providing current and accurate information and emotional support via the website, helpline and online forums.

DON’T BE SCARED

Mark talked to us about what it means to be the parent of a child with a rare disease. Although it is far from easy he has found a way through, and shares the words he needed to hear when he was struggling to come to terms with their new reality. Read more about Mark’s story here.

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“For me, my music, that’s my getaway.”

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The birth of isolation

in conversation with Mark Dewhurst

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A little over fourteen years ago Mark became a Dad, and of course his life was changed forever. The birth of a child is expected to change everything, how could it not. Although we can’t truly imagine how our lives will be changed, we rarely think that they will be anything other than a version of the life we secretly dreamt of. Within mere moments of her birth Hannah’s journey became the one we don’t like to imagine, and she was taken into the special care baby unit (SCBU) where she then had to stay for the first three weeks of her life. When Anne was still pregnant Mark attended some ‘Parentcraft’ classes with her. The aim of these sessions is to help prepare for the arrival of the baby and to learn about not only the birth but also a little about those overwhelming and wonderful early days of parenthood. Looking back Mark recalls that out of a group of around 15 expectant parents he was the only one who asked ‘what happens if the child’s got something wrong with it?’ But his question was not answered.

This silence, this reluctance to address issues that might be difficult was an experience that he encountered all too often in those early years. Mark remembers that “I did actually try regularly in those early weeks, there were times where I was trying to talk about it but the majority of people, if not everybody, just didn’t want to know. ‘Oh, everything will be

alright.’ That was something that stood out for me, ‘everything will be fine don’t worry Mark.’ I think I did even try to say ‘no, it won’t’ but they still kept saying ‘don’t worry, it’ll be fine.’”

But what if it isn’t fine? What might that look like? What does it mean for a family, for an individual, for a new Dad? These are such important questions, and yet they are all too rarely talked about. In sharing their story Mark hopes to be part of the change he wishes to see. He wants to be able to give voice to the secret fears so many parents on a rare journey face.

After Hannah was born the journey to receiving a diagnosis was a long one, eventually she was diagnosed with an ultrarare genetic condition called Cornelia de Lange syndrome (CdLS), as well as receiving a diagnosis of autism. As with many rare journeys, Hannah’s story is still unfolding, and as she enters her teenage years new challenges are presenting themselves.

In the first few years of her life Mark was back at work and his wife Anne was at home caring for Hannah, engaging with the evergrowing medical team around them. What strikes Mark now, looking back, is that being at work actually gave him some time and space away from things to think, to try to process the enormity of the changes and challenges they were facing. “I used to contemplate, probably most days really, what the future is for us, for Hannah.

It was nice to contemplate it, but then horrible as well, because you were worried for everybody concerned really.”

In not having people who felt able to talk honestly with him about what was happening in their lives Mark experienced something that was new to him, a feeling of loneliness and isolation. He felt that many of the people around them didn’t really want to have to think about someone else’s life when it was unfolding so differently from their own, from the norm, but preferred to brush past these issues without truly engaging with them.

Even now there are still very few people he feels that are truly able to be there for me. “The isolation was a new happening in my life because I don’t really think I’d come across that before, and certainly not in the same situation. You’re talking about your daughter, somebody so important to you but people don’t want to talk.” He wonders if this is perhaps because if they allow themselves to look too closely at a life that is so different to their lives they feel frightened. This fear, if it is that, means that what Mark experienced so strongly was a feeling that “not many people understood, or had any real compassion.”

Anne has conducted countless hours of research into Hannah’s conditions and from this she started her ‘My Kid Loves Broccoli’ blog. Through this she

found her own rare community of friends with whom she could connect, sharing their experiences and supporting each other through the years. In turn she has, Mark feels, been able to use these friendships to enable her to support him too. Over the years, they have attended national CdLS conferences and begun to build a community around their family and to have important experiences that have helped to positively impact their rare journey. It takes time to adjust, but as Mark explains once you do it becomes “difficult to actually say what has changed because it just becomes the norm.”

Each rare family has their own dynamic and it can take time to establish. When Mark reflects back on their journey he sees that they’ve reached a place where their life works for them. Their weekends and school holidays with Hannah are not always easy, but they make sure that they are busy and fulfilling for her, with lots of bracing walks, enjoying the fresh sea air. Whilst Anne writes and doodles Mark has found that “music takes me away from it. It’s a very, very simple thing, and it’s always been of interest, but I think it’s become more important. For me, my music, that’s my getaway.”

Whilst the path to a place of acceptance and peace is not a universal or linear one, Mark shares some insights he has

gained, offering if not the conversation that he so desperately needed in those early years then at least some guidance.

“It’s going to be hard, but if you’re getting that diagnosis, early on especially, then you’re in from the start. Find out as much as you can, there are support networks there. Don’t be intimidated, you almost certainly will be but there are a lot of amazing things we’ve come across. Everybody’s different but there’s still plenty to learn, plenty to make you happy and plenty to look forward to. Don’t be scared because it’s not going to do anybody any good being scared.”

AboutCdLS affects between 1 in 10,000 to 30,000 live births and is present at birth. Individuals may display physical, intellectual and behavioural characteristics. However, it can be widely variable and not all people with the condition will show all of the aspects.

www.samebutdifferentcic.org.uk

For more information visit which can signpost to the different Foundations. If based in the UK you can find out more Here

Here

The inspiring journey of Zayd:

a brave 5-year-old battling MCOPS12

contributed by Sadia Choudry

Images courtesy of Sadia

In a world where stories of courage and resilience shine through adversity, the tale of 5-year-old Zayd stands out as a testament to the indomitable human spirit. He is a young boy with a rare genetic disorder called MCOPS12 who has captured the hearts of those around him, leaving an indelible mark with his unwavering determination and infectious joy for life. By sharing his story and journey, and highlighting the challenges he faces and the incredible strength he embodies, we hope everyone sees this amazing little boy for who he is.

Zayd was born in Pakistan and his inability to make eye contact at the young age of 3 months raised concerns for his mum Sadia. Desperate for answers, she sought help from numerous doctors, but their efforts to diagnose his condition were in vain. Confronted with the daunting reality of her son’s undiagnosed condition, she made the courageous decision to move back to the UK, determined to provide him with the best possible care and support.

After enduring countless hospital appointments and the passage of two long years, the eagerly anticipated diagnosis finally arrived. Sadia, fuelled by unwavering determination, embarked on a transformative journey to ensure that her beloved son could live a long, healthy, fulfilling and joyful life, despite the challenges that lay ahead.

Facing numerous obstacles in his daily life, particularly in the development of his motor skills, his progress has been slow. Ongoing therapies and interventions have played a crucial role in his advancement. His motor skills began to show slight improvement at the age of 1 ½ when he started gaining neck control and could hold his head up. However, at 5 years old, he still cannot crawl, stand or walk. It was on 14th June this year that a remarkable milestone occurred, Zayd surprised his mother and sisters as he sat unaided for fifteen minutes, a moment that they will forever cherish.

“I want to jump, Mama,” said Zayd one day as he sat on the floor. His curiosity and longing to participate in activities like playing football or jumping on a trampoline sparked numerous discussions together with his mum. With a deep understanding of his desires, Sadia said, “Come on then, let’s jump together!” She playfully bounced while sitting next to him. Zayd, however, said, “Nooooo, I want to jump on my legs.”

“Zayd’s journey with MCOPS12 shines a light on the strength and resilience that exists within the human spirit.”

These heartfelt conversations highlight his yearning to experience the world in ways that may seem unattainable to him. His mother’s empathy and encouragement remain constant as they navigate these conversations, continuously seeking ways to support his dreams and aspirations.

His mum, along with a team of dedicated medical professionals, works tirelessly to provide him with the necessary treatments and therapies to enhance his motor abilities and overall well-being. This arduous journey has involved the unwavering dedication of physiotherapists, occupational therapists, speech and language therapists, dieticians, and regular consultations with doctors from three different hospitals. Their combined efforts have brought Zayd to where he is today.

Despite the physical and cognitive obstacles he faces, his spirit remains unbreakable. While he is mostly fed through a feeding tube, he eagerly desires to engage in the family dinner experience,

longing to see and smell the food his loved ones enjoy. His infectious laughter and radiant smile have the power to brighten even the darkest of days. His insatiable curiosity and eagerness to learn have endeared him to his teachers and therapists, who are amazed by his resilience and thirst for knowledge. Recognizing the potential limitations in his ability to write, he is provided with IT lessons at school, enabling him to participate alongside his classmates during writing sessions.

He has been enrolled in the Halliwick Swimming Programme, a specialized programme designed for children who have limited mobility or difficulty walking. This program focuses on empowering individuals to become independent and confident in the water.

Initially he would cry incessantly when he first started going to hospitals, the unfamiliar surroundings and overwhelming experiences were understandably distressing for him. However, as the years passed, his

countless appointments and admissions have made hospitals feel like a second home to him.

His medical history is extensive, with a series of procedures and surgeries shaping his path. He was born with cararacts in both eyes and has undergone surgery to remove them from one eye. He has faced significant challenges related to his vision. Additionally, he has undergone surgeries for diaphragmatic hernia, orchidopexy, and gastrostomy, each requiring immense strength and resilience from both himself and his mother.

Zayd courageously faces daily challenges presented by both dystonia and spasticity, two neurological conditions that affect his muscle control. These conditions result in involuntary movements and muscle stiffness, making everyday tasks more strenuous for him. In addition to dystonia and spasticity, he has also been diagnosed with Chiari 1 malformation, a condition

“After enduring countless hospital appointments and the passage of two long years, the eagerly anticipated diagnosis finally arrived.”

“Despite the difficulties he faces, his journey is a testament to the power of love and unwavering determination.”

characterized by the downward displacement of the cerebellar tonsils into the spinal canal. This condition brings its own set of challenges, requiring careful monitoring and management to mitigate its effects on his overall well-being. Moreover, he faces the additional hurdle of having both hips displaced. This further complicates his mobility and adds to the physical limitations

he must overcome. However, his unbreakable spirit and the support of his loved ones provide him with the strength to persevere. Zayd’s journey has not been one travelled alone. His family has found solace and strength through connecting with support groups and organizations that specialize in rare genetic disorders. One such invaluable

resource is the MCOPS12 community, run by parents of individuals with MCOPS12. This close-knit support group provides a network of understanding and empathy, offering guidance and resources to families navigating similar challenges. Through this community, the family has found a sense of belonging and a shared understanding that has been instrumental in their journey of resilience and hope. Together, they offer unfaltering support, share experiences, and provide a lifeline of compassion to one another.

This network of support not only strengthens their bond but also serves as a reminder that they are not alone in facing the unique hurdles posed by rare genetic disorders. Fundraisers, awareness campaigns, and events have been organized to raise funds for research and promote a greater understanding of this rare genetic disorder.

“It was on 14th June this year that a remarkable milestone occurred, Zayd surprised his mother and sisters by sitting unaided for fifteen minutes, a marvellous moment that they will cherish forever. “

Zayd’s story serves as an inspiration to all who encounter it. Despite the difficulties he faces, his journey is a testament to the power of love and unwavering determination. The family, along with the support of their community, remains steadfast in their commitment to providing him with the best opportunities for growth and progression.

His journey with MCOPS12 shines a light on the strength and resilience that exists within the human spirit. Through his infectious laughter and unyielding determination, he teaches us the importance of cherishing every moment and embracing life’s challenges. His story serves as a reminder to advocate for and support individuals and families facing rare genetic disorders, fostering a more inclusive and compassionate society.

MCOPS12 is an ultrarare neurological disease caused by a mutation in the retinoic acid receptor beta (RARB) gene and with only 54 known cases around the world. Due to the rarity of this disease, there is very limited information and no treatment at all. The most common symptoms of MCOPS12 are microphthalmia, severe (progressive) movement disorders and intellectual disability. Movement disorders may include spasticity, dystonia and chorea. In addition, malformations such as incomplete lung development (pulmonary hypoplasia), defects of the cerebellum (Chiari type I malformation), and a defect/hole in the diaphragm (diaphragmatic hernia) have been observed.

Cure MCOPS12 is a registered non-profit organisation dedicated to improving the lives of children and families affected by MCOPS12. More information can be found:

DRIVING CHANGE IN CONVERSATION WITH NICK SIREAU

When a child is diagnosed with a rare condition the lives of the whole family are irrevocably changed, in many different and often unexpected ways. In late 2000 Nick and his wife Sonya became parents, welcoming a baby boy they called Julien into the world in October of that year. It was only after they’d been discharged home that they noticed that his nappies were starting to tinge red, turning to black when exposed to the air.

As it was the weekend they couldn’t visit the family GP so they called an emergency doctor who tested for blood in the urine. When none was found he advised that the tinging might just be from the red cabbage they’d eaten earlier in the day passing through the breast milk into their son’s urine. Despite being new parents they trusted their instincts that this wasn’t right and took Julien to their own GP once they could. The GP immediately sent off a range of samples for testing.

“The results came back with this diagnosis of Alkaptonuria (AKU), or black urine disease, and that was the beginning for us. We had never heard of Alkaptonuria, we weren’t even aware that rare diseases existed really… (there) was no history of rare diseases in the family, no history of genetic diseases, absolutely nothing. So that’s very much where the journey started.”

Despite the advice from their doctor not to go and search on the internet they did and managed to find a Yahoo Group* which they joined. Once online they found an active community, largely made up of people living in the USA, whose descriptions of their many challenges living with AKU were not always easy to read.

“Reading about the suffering they were going through because of their AKU, they were talking a lot about severe spinal problems, severe pain, joint problems, Achilles’ heel tendon ruptures, joint operations, hip replacements, their bones being black, the pain medications they were on, which nerve blocks, well it was just pretty awful, to be honest.”

One of the UK based members of the group was a man in his late fifties called Robert (Bob) Gregory. After connecting online Nick decided to go meet him and travelled to Liverpool where he lived. He recalls that Bob was a determined and strong-willed man, and he was in the process of setting up a UK patient group along

Images courtesy of Nick Sireau

with his doctor, a clinician called Professor Ranganath. They invited Nick to become a trustee, and in June 2003 the AKU Society was officially registered.

In August 2003 their second son, Daniel, was born. The first few days were desperately anxious ones, carefully checking his nappies until their fears were realised and his nappies also began to tinge red to black.

However, the doctor did share with them that there were some people in the US who were researching treatments. Nick emailed the main clinician involved who confirmed that there was indeed a drug, that had been originally developed as a weed killer, that they felt looked ‘pretty promising’ and which they were going to research and trial.

We had seen a doctor, a metabolic consultant paediatrician at Great Ormond Street Children’s hospital who had told us there was nothing we could do. He actually told us ‘look, it’s not a very bad disease, they’ll just get a few joint pains later in life’ which seemed to be the prevalent kind of understanding at the time.”

From their research, and the relationships that they’d built with the international AKU community, they knew this was not correct and that many of those living with AKU were really struggling. It was not only difficult to receive a correct diagnosis, they were also struggling to get the right treatment and pain management, which as Nick points out, is unfortunately actually ‘quite typical of rare diseases.’

In the early days of the AKU society, and in his role as trustee, Nick focused his efforts on fundraising, his first half marathon saw him raise enough funds to pay for the autopsy of a patient who had donated her body to science. As he explains this was to be the first ever autopsy to be conducted on someone with AKU, which had huge significance on many levels. The autopsy itself proved to be very revealing, and a vital starting point for the team at the AKU Society who were then able to secure half a million pounds from the Big Lottery Fund to award research grants.

Meanwhile in the US they were working on studies into nitisinone, the drug they had identified as having real potential to help those with AKU.

“Unfortunately their studies failed, because AKU is a very slowly progressive disease… [and] the FDA had insisted on a single clinical endpoint… so their study failed, even though the drug on paper and biochemically works amazingly well… everyone was devastated.“

In 2010 Nick decided to give up his job, and was soon appointed as the CEO of the AKU Society. Until that point he had been working for a well-known solar power charity doing international development work, alongside some communication and journalism work, but he felt strongly that he needed to do whatever he could to give his boys the chance of a better future.

Robert (Bob) Gregory

“I just woke up one morning and I realized that actually solar power in Africa is a very popular cause… and that they would have no problem finding someone to replace me. However, the

“That’s when something clicked inside me. I thought, you know, I really need to do something about this.

AKU Society were working on an ultra-rare genetic disease that affects only one in half a million and for which there’s very little research, and it would be much more difficult to find anybody with the passion to do it.”

From that point on Nick committed his time, efforts and focus on trying to secure the funding to properly research a treatment that could help all those living with AKU. The following years were largely positive ones, and the team at the AKU Society not only convinced the company that owned the drug, nitisinone, to join them in their efforts and to form a consortium, they also secured funding from the European Commission, and conducted studies which were successful in proving their objectives.

“We got the approval from the European Medicines Agency two and a half years ago, and then the European Commission (EC) approval, and also the approval in the UK… It was one heck of a journey.”

Finally in December 2020 Sky News** reported that ‘a drug called nitisinone has been approved for use after trials showed it can halt the progress of AKU and provide hope for a pain free future for the 30,000 people who have the condition.’

From the surveys undertaken by the AKU Society it was established

that today around a third of those with AKU are diagnosed early, typically shortly after birth. For many however the road to a diagnosis is a long and difficult one, and they are forced to go through a real diagnostic odyssey, often spanning much of their adult lives. In that time they are not only living with pain, but their debilitating and degenerative joint issues can lead to physical disability. Many of those living with AKU are forced to stop work in their forties, and there seems to be a fairly clear correlation between the physical degeneration and advancement of their AKU with an increase in mental health problems.

The research into the treatment of AKU had focused in large part on providing a better outcome for those diagnosed early by finding a treatment protocol that would mean that the disease could not progress. Put simply, effective treatment would occur by ensuring that only a very limited build-up of homogentisic acid (HGA) happened in the body, thus slowing or stopping the damage it causes. However once the drug became available to the wider AKU community some exciting developments occurred.

“I can distinctly remember when Professor Ranganath rang me up, he was very excited because he’d been looking at some photos… Some of the symptoms of AKU are black spots in your eyes

which get bigger and bigger, and your ears get bluer and bluer because of the cartilage going black. He noticed in the photos that over time, and once the patient was treated over several years, that actually the black spots got smaller, and the blue pigment in the ears kind of faded away. He was amazed. The conclusion he came to is that it does lead to a partial reversal of the symptoms, at least in the eyes and the ears.”

Nick is keen to emphasise that it is not yet fully understood what is possible in terms of reversal to damage done to cartilage or the bones, and not all those treated will experience the same improvements, but the drug shows some exciting potential to improve outcomes for those with more advanced AKU symptoms as well as those who received an early enough diagnosis to ensure that they can begin preventative treatment.

On a personal level Nick’s commitment has given his boys the outcome he hoped for, now nineteen and twenty two years old respectively, they are both doing well.

“Overall I’m pleased that they got diagnosed at birth, because if they hadn’t, it would be too late.They’d be developing symptoms now and we’d be thinking ‘what the hell do we do?’”

He explains that whilst the boys were young they didn’t really talk to them too

Photograph by CDC, Unsplash

much about their AKU so as not to cause them too much worry and uncertainty, although they both knew that they had it and spent their childhood attending hospital for annual checkups. Now however they are both on nitisinone.

“Julien has been on it for five years, and Daniel for two and a half years. So far it’s going well, they don’t really have any symptoms. They have to be on a controlled protein diet to keep their tyrosine levels down, because that can have side effects, but so far, so good.”

When someone is prescribed nitisinone they are also advised to follow a controlled protein diet because nitisinone use increases blood tyrosine levels, which can cause side effects. For now, treatment is not started in the UK until after a child has reached the age of sixteen, in large part because there are still questions about whether the high levels of tyrosine caused by nitisinone might cause brain damage. So the focus now for the AKU Society, and indeed the worldwide AKU community is to both establish what a safe treatment protocol might be for children, and to realise their next huge objective which is to develop a complete cure.

Through his work with the AKU Society, Nick realised that the study of rare diseases can help understand more common diseases, but that the

Photograph by National Cancer Institute, Unsplash

initiation of any kind of research into very rare diseases is all too often left to those whose loved ones have received a diagnosis. Because the AKU Society had set a good model for others to follow when establishing a patient support group for a rare condition Nick explains that

“I was being contacted regularly by parents of children with other rare diseases who were asking me ‘what do we do’? And so I thought it would be good to set up some kind of formal structure that would train them, and help them.”

He began to realise that the rare disease community needed an organisation that could give patient groups the tools needed to form, grow and professionalise, and so in the summer of 2012 the charity Findacure, now Beacon for Rare Diseases, was founded by Nick and a man called Anthony (Tony) Hall. Tony, an expert in orphan drug development, was especially interested in establishing an organisation that could build sustainable models for not-for-profit rare disease drug development. Nick is still an active trustee

and chair of the charity, which has grown from strength to strength over the years and recently celebrated their ten-year anniversary.

More recently Nick has set up another charity called Orchard OCD, which aims to advance global OCD research. Obsessive compulsive disorder (OCD), is described on the NHS website as a mental health condition where a person has obsessive thoughts and compulsive behaviours. As with the AKU Society this charity is a deeply personal one for Nick, who has lived with OCD for the last thirty years. At times, he explains, it has had a huge and often difficult impact on his life. Whilst OCD is a fairly common condition it remains under researched, and indeed, it is often trivialised.

“People have no understanding of just how awful it can be. It’s a devastating mental disorder, and so I’ve set up a charity to fund research.”

The medical diagnoses that have been given to Nick and to his sons have undoubtedly had seismic effects on both his personal and professional life. Through his commitment to dedicate his life to searching for answers, for treatments, for a cure, and for hope, and a determination to make a difference he has both driven and advanced research into a number of rare diseases in many different ways, and set up three brilliant charities in

the process. Reflecting on the rare disease community today he feels that overall there is more awareness, more research, and yes, more hope.

* Prior to February 2020 Yahoo! Groups were one of the world’s largest collections of online discussion boards which allowed members to subscribe to various groups, where they could post, read previous discussions, view and share photos, files and bookmarks online. In late 2020 it was announced that Yahoo Groups would shut down completely by the end of the year.

** Read the article here

“For all rare diseases the environment now is much better than it was twenty years ago. We have groups such as EURODIS and Genetic Alliance and we’ve laid some pretty solid groundwork for rare diseases.”

Professor Ranganath, clinician

Nick with his sons, Julien and Daniel

About

Alkaptonuria, which is also referred to as AKU, black bone disease or black urine disease, is an incredibly rare inherited genetic condition.

AKU stops the body from breaking down two protein building blocks (or amino acids) which results in a build-up of a chemical called homogentisic acid (HGA) in the body. HGA is naturally produced during digestion but if it builds up it can over time lead to significant damage to the bones (black and brittle bones), cartilage and tissues of those affected. AKU can sometimes also cause additional serious health complications.

AKU is a recessive genetic condition, caused by a mutation of each of a pair of chromosomes. This means that if two people who both carry the faulty gene have a child then their child would still only have a 25% chance of developing AKU. Typically the carriers of the gene would be unaware of this mutation.

Find out more

Imagea courtesy of Nick Sireau

Case Study

Tony Esmond, a trustee of the AKU Society, took part in Same but Different’s ‘Days of Rare’ project in October 2021, at that time he had not yet started treatment with nitisinone but he told us about his hopes that he would be able to. Once he’d begun treatment he shared an update with us, explaining that it “has been life-transforming and I can now get back on the floor to play with my grandchildren. I may not be able to play a full game of football, but I can at least kick a ball. I get to enjoy their company, give them cuddles, take them to the cinema and have a laugh and be a hands-on Grandad.”

To read all about Tony you can visit our immersive online Days of Rare exhibition

Click Here

Photograph by Ceridwen Hughes

What we’re into

BOOK REVIEW

Shtum by Jem Lester, published by Orion Books

This brilliant book was first published in 2016, but if you’ve not yet read it then we highly recommend that you do – it’s a great book in so many different ways.

Whilst Shtum is a work of fiction it was inspired by the author’s own experience of parenting his son. One of the things I loved most about this book was that it gave an honest, at times unflinching, but also often darkly funny insight into the world of special needs parenting. A world that can often feel distinctly Kafkaesque. Throughout the book Ben, the narrator of the story and the father of 11 year old Jonah, charts the often paradoxical fight his family faces to try to ensure that Jonah receives the support he needs in order to thrive. It’s not always an easy read, but it is an important one. Families like Ben’s should not be invisible, but they so often are, which is why it is so incredible when a book like this one comes along!

TV SERIES REVIEW

There she goes

As with our book choice this groundbreaking TV series is not a new series, but in June 2023 the BBC broadcast a one-off hour long special which the Guardian review described as ‘a beautiful, cathartic return for David Tennant and Jessica Hynes.’ This, possibly final, episode offers some truly moving moments of growth, hope and indeed happiness for Simon and Emily, the often overwhelmed parents of the central character Rosie, impressively portrayed by the young actor Miley Locke.

The first episode of Season 1 was aired in October 2018, the success of the show saw it return for a second series in 2020. All too often shows are described as groundbreaking when often they might merely be shocking in some way, but this

series actually has managed to be truly groundbreaking, and has done something that very few TV shows manage – it made the viewers care about it’s central characters, despite them not always being easy to like. We are all flawed and complicated at times, and perhaps never more so then when we are being tested to our limits by the challenges of parenting, especially when our parenting journey is not the one we expected to be on.

The series was created and written by writers Sarah Crawford and Shaun Pye, and based on their own experiences with their daughter who was born with a chromosomal disorder. They have been open in sharing that they borrowed heavily

from their own experiences and feelings in creating their characters, and were brave enough to share the often hidden truth, that many parents of complex children whose behaviours can be deeply challenging do wish that things were different. Parental love is not always instant, it is not always easy, and it does not always mean loving everything, every moment, or every part of your child. But it is love that gets us through, or indeed love and humour often, and that is what this show illustrates so brilliantly, and with such integrity. The Yates family are far from perfect, but no families are, and this wonderful show gives a hugely important insight into the chaotic world of special needs parenting.

BLOG REVIEW

Simply Emma - One of the UKs Leading Disability Travel Resourcesproviding comprehensive reviews and advice on accessible travel

When Emma is not travelling she lives with her partner Allan and her two cats in a small town in Scotland. She set up her blog, Simply Emma, to share her experiences, insights and knowledge of accessible travel and it has gone from strength to strength, becoming one of the leading travel and disability blogs. Emma lives with limb girdle muscular dystrophy, and as she puts it her wheels are her legs, Emma loves to travel, to enjoy new experiences and adventures, and hopes that her experiences will encourage others, both with or without a disability, to try to travel more, to seek out new horizons, make new discoveries and to enjoy all the sights, sounds and experiences the world has to offer.

Emma’s brilliant website combines her personal stories with accessible travel guides, accommodation reviews, a range of lifestyle reviews, as well as handy hints and resources. It’s a brilliant way to get some travel inspiration, to help you plan your trip or just lose an hour or so enjoying her engaging and informative website – overall a fantastic blog and resource!

Visit the blog

www.samebutdifferentcic.org.uk

Image courtesy of Simply Emma

Roman Holiday Accessible city breaks to the Eternal City.

Photograph by Marco Chilese, Unsplash

A city break to Rome is a bucket list must. Still basking in the warmth and sunshine, without it being too hot, autumn is the perfect time for a Roman city break. With tantalizing food, great wine, rich arts and culture and, of course, the historic sites to visit, this is one not to be missed. Rome, known as the Eternal City, has a history spanning 28 Centuries and is one of Europe’s oldest continuously occupied cities.

THINGS TO DO

There really is a plethora of things to do and see here in Rome, that’s without spreading out into the surrounding countryside and villages which also offer great options for day trips. Rome can be hilly, and some streets do have steps in a lot of places so plan your route carefully. If you are wheelchair based, start at the high points, stick to main roads and work your way down so you are not going uphill.

Walking Tour

There are plenty of accessible guided tours around the city which take in many of the sites from the Spanish Steps, the Trevi fountain to the Parthenon. The tours are planned well and give a great range of local knowledge and history. This type of tour is highly recommended. It’s worth booking a few days into your trip so you can judge the streets for yourself and how you fare on cobblestones etc.

The Vatican

No visit is complete without a trip to Vatican City. There is an array of things to see within the small independent state all packed into the 0.44 km2 site. Accessible tours are available and are recommended to book in advance. The two main highlights, of course, are St Peter’s Basilica and the Sistine Chapel. There’s plenty more to see including the numerous museums, the Vatican Library and the Vatican Palace. Priceless artworks are on display from the painted frescos by Michelangelo in the Sistine Chapel to Raphael’s frescos in the Vatican Palace.

Day Trip to Pompeii and the Amalfi Coast

Why not take a day trip from Rome and visit the Amalfi Coast and of course Pompeii? Pompeii is a huge archaeological site that was buried under ash and rock after Mount Vesuvius erupted in AD 79. Today it is a UNESCO World Heritage Site and it is one of the most visited tourist locations in Italy, with good reason. The site is accessible on certain routes and is a bucket list trip for many.

WHERE TO STAY MUST SEE

Rome has a lot of hotels to choose from, from budget through to the ultimate in high end luxury. We have chosen three accessible hotels that we think you will love just as much as us. Not all hotels in Rome are accessible so it is always best to check when booking.

NH Collection Roma Vittorio Veneto, found in the centre of Rome, close to the main street Via Vento, and the Trevi Fountain, Spanish Steps and Villa Borghese are close. Offering beautifully decorated air-conditioned accessible rooms, this well-appointed hotel is definitely a place to enjoy Rome from.

Visit Website

Hotel Adriano, Roma is located in the historic centre of Rome, close to the Piazza di Spagni “The Spanish Square” at the foot of the Spanish steps. The hotel sits within a 17th century building that offers every modern convenience mixed with a luxurious cosy room to return to after a day of sightseeing. It has its very own ‘Gin Corner’ so you can enjoy a G&T after your busy day.

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Martis Palace Hotel, Roma is a boutique hotel that offers beautiful rooms to unwind and relax in after a busy day. The hotel is located close to Piazza Navona and the Pantheon. Another great feature of the hotel is it has an enviable rooftop bar offering 360 degree views of the city. A perfect place to enjoy the Roman sunset.

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You cannot come all the way to Rome and not see the Colosseum. This iconic structure is known worldwide despite it being built over 1900 years ago. It is the largest amphitheatre in the world ever constructed and is one of the new 7 wonders of the world. Histrorically an arena for bloodshed, sport and wonders in ancient times, it is still worth the visit today, albeit in a more peaceful and awe inspiring way.

Photograph by Yoav Aziz, Unsplash

WHERE TO EAT

Italian food we all know. There are so many restaurants here and really something for everyone from tasty gelato, to fresh bread and oils, pasta and pizzas and of course there is the wine! Within Rome not all restaurants are fully accessible, for instance, bathrooms may be in the basement with no alternative means of getting down other than stairs, so we recommend you check before booking a table.

Rinaldi Al Quirinale is one of Rome’s top restaurants. Renowned for its excellent fresh seafood and featuring a wine cellar that is one of the best around, you will not be disappointed. It’s a 10-minute stroll away from the Trevi fountain so you can stop by to throw in your coins!

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Ristorante 433 is located close to the Piazza Navona and Castel Sant’Angelo. Offering indoor and outdoor seating, this restaurant is a huge hit with the locals as much as it is with the tourists who love the traditional Roman food on offer. The menu is packed full of tasty morsels made from fresh ingredients. Try their orange tiramisu for an indulgent treat, it will not disappoint.

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Located close to the Colosseum the Isidore Restaurant is found in an old convent. The food offers up great Roman choices among seafood and a fantastic Mediterranean menu. The friendly staff will make your meal pleasant and relaxed.

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COST OF LIVING NIKKI’S STORY SPOTLIGHT 2023

Looking at the financial crunch effects on our rare and disabled communities.

Same but Different have been conducting surveys to help create a larger picture of what is needed and where help and support should be directed. Please take a few minutes out of your day to help SbD achieve this by completing one of the surveys. You can find the surveys by Clicking here

or by scanning this QR code:

We are all aware of the financial situation that we find ourselves in today. Rising food costs, interest rate hikes, climbing utility bills, and high gas and electric prices are a constant worry. Many of us are tightening our purse strings, cutting back on nonessential costs. The future is completely unknown. Some news articles talk about levelling off for some prices, but others exacerbate our worries about increasing costs for certain things, uncertainty is all that is known at this moment in time.

Imagine having all these worries on top of dealing with a rare disease or a disability. The extra costs of running essential life-saving equipment, increased fuel prices and parking, or taxi and public transport costs to get to and from vital hospital appointments. The extra costs for certain indispensable diets or fundamental health needs. These are just some of the hidden costs that many people are totally unaware of, or at best barely give a second though to. It is only when you have to try to find the extra funds needed, or live with the condition or disability that it becomes all too apparent!

We are investigating how our communities are being impacted by the financial crunch today and what we as a community, organisations and charities can do to alleviate some of the burdens on our society.

Photograph by Richard, Unsplash

Over the past few months, we have spent time talking with individuals trying to balance their lives, needs, health and financial responsibilities during this financial squeeze on society. Many have spoken about the fear of what’s next, if things continue to increase where does that leave them? How can they streamline an already overstretched budget to cover essential costs? How can mental health not be affected when every day brings worry or difficult choices to make?

Nicola Lewis is a carer for her two daughters, Alana and Ella, 16 years old and 5 years old respectively. They both have foetal valproate syndrome. “It’s caused, unfortunately, by a medication that I take for epilepsy, nobody told me about it at the time of my pregnancies or prior to them. It has caused multiple complicated difficulties, for the girls. They’re affected in different ways. It’s a developmental condition more than anything, at each developmental stage you will see new things coming to life. It’s a learning curve, basically we’re learning as we go along.”

Nikki describes living with the girls like being on a roller coaster, as their behaviours can change instantly. “You get up in the morning and you just don’t know what to expect. The children can be literally Jekyll and Hyde, so one minute they’re happy, the next minute they can fly off the handle, they’re angels and demons. The hardest part about it is they don’t understand. They have understanding difficulties. Trying to get across to them what you mean is very, very hard. On top of this, the girls have a lot of coping mechanisms. They’re able to hide a lot of things. We’ve got to deal with the children in a specific way, but then we’ve got to deal with the outside world to help our children. We’re dealing with both daily.”

This leads to difficulties getting the right support in place and is a constant battle for the family. It has been this way since Alana was born. “We have been called liars and overprotective parents. We’ve been discharged from departments because they say there is nothing wrong with the girls. We have fought for everything, especially for the eldest for her education.”

Having to fight for support and understanding from professionals only exacerbates the family’s worry and stress during the cost of living crisis. The family are feeling the squeeze with the crisis, especially with small regular increases. On top of the cost of food,

clothing is a huge expense for the family. Continual growth spurts cause the need for new clothes, including the often costly school uniform. Shoes are another big expense for both girls as they have to be fitted. “The eldest has been diagnosed with hypermobility and the youngest has got mobility issues, she’s constantly falling over, so she needs extra support around the shoes. They’ve both got awkward feet we can’t just go and buy them from cheaper places unfortunately it’s mainly Clarks.” The costs all add up and are a huge expense for the family.

“The eldest has got a condition that is affecting her body odour, we found that a lot of children who have this condition suffer from body odour. The sweat gets into her clothing, and we’re washing her clothes constantly, we even scrub it with washing liquid.

“If you’ve got a support network, you feel like you’re not alone. You’re not the only one that’s going through this and you’re not imagining things.”

“The children will only eat certain things, certain textures. The youngest’s appetite is unbelievable. She can eat quite a lot as she has continuous growth spurts which are also part of her condition. At 5 years old she is already in age 8-9 clothing.”

On average we wash the clothes three times over to get the body odour out of it. It’s wear and tear on the washing machine, the electricity and the washing gel, we can’t use a bog standard gel, it’s got to be a specific brand. Both girls have pica1 and it can be a health risk and dangerous if we can’t provide safe sensory things.” It’s little things like this that add up and help strain the finances during this crisis.

“I’ve got to pay for fuel for my car, plus there’s the wear and tear on the car. It’s been in and out of the garage because it’s not a new car so it’s getting to that stage now. We’ve got to pay for the extracurricular activities that we need as they were advised by physiotherapists due to the hypermobility, to encourage strength and tone within the muscles and the joints. Without that, we will be back in a wheelchair with the eldest. We use a lot of gas to keep the heating going in the house because the house that we’ve been provided with suffers from mould. Some parts of it have been treated already, but unfortunately, it’s coming back. If we’ve got washing hanging around in the house, then obviously we’ve got all the moisture, so we’ve got the heating constantly on. We’ve got a tumble dryer that we have to use because we’ve got so much washing going through, that is a huge cost to the already rocketing electricity bills. The list just goes on and on and on.”

All of these costs that add up for the family mean sacrifices in other areas but

how can you cut something that is needed and not just an extravagance?

“It’s stress, stress and strain, we question every choice now, can we do this, can we not? We have to cut back. It’s horrible for everybody, I’m not saying we’re more important. However, the needs of the disabled, and especially someone with a rare disease, are extremely important, you have no choice, there is no option to cut back. Things have got to be done. You have got hospital appointments to get to it’s not just a case of getting back into school. It’s not just a case of going and visiting relatives and having days out. We do need to have days out, we need to get the girls out of the house. The behaviour is just absolutely monumental if they are cooped up. It’s just frustration.”

Nikki finds the lack of support hard, harder still is knowing where to go for help or advice. Just who to reach out to? “No one gives you advice now, you have to try and find out things but who do you turn to? Even some of the support organisations, they don’t know where you can go. It’s a case of you going out and trying to find something. But when you get mentally and physically drained you can’t. It’s so hard to do. You’re already fighting to keep your family going. You’re fighting to keep your children going. You then must find the time and find that mental energy to go out and dig somewhere else, but where? You don’t even know where to start?

We just need support from somewhere. And I don’t know why it’s so hard.”

Being signposted to help would be a huge relief to Nikki and her family, who are already struggling to deal with the day-to-day lives of the girls and their conditions. At present Nikki finds some support from peer groups but it hasn’t always been there in the past, “It’s so important, it really, really is to have help. If you’ve got a support network, you feel like you’re not alone. You’re not the only one that’s going through this and you’re not imagining things. Without the support it’s horrendous. You go down mentally, you know, you go down physically, your health is interlinked. If you can’t deal with things, if you can’t look after yourself, how do you look after your children?” Despite the peer support groups, the family need more help and support starting with clear advice.

1 Pica is a feeding disorder in which someone eats non-food substances that |have no nutritional value, such as paper, soap, paint, chalk, or ice.

Our cost of living project is supported by:

Photograph by Ceridwen Hughes

What is

art therapy?

Art therapy began in the fields of art and psychotherapy and only became recognised as a profession in the mid20th century. It was a British artist called Adrian Hill who is credited with creating the term ‘art therapy’ when he himself was recovering from an illness and he discovered the therapeutic benefits of drawing and painting to support his mental health.

There are three main ways that art therapy is employed, and current art therapy includes a number of theoretical approaches. Sam’s website explains that “art therapy is a mental health profession that utilises art materials to express and communicate feelings in a safe and confidential space. The focus is on the process of creation, rather than the outcome. There are many ways to utilise creativity to express emotions that are sometimes difficult to acknowledge or verbalise. Engaging in creative expression aids in development of selfregulation, encouraging insight and awareness. Art therapy helps create meaning, develop new perspectives, and build resilience.”

Photograph by Taelynn Christopher, Unsplash

Photographs courtesy of Samantha Hickman

Samantha Hickman grew up in the Middle East, her father was a pilot and the family were mostly based in Saudi Arabia until she was fourteen, after which they moved to Hong Kong. Growing up she didn’t have access to a TV and of course the days of constant connectedness were not yet a reality and so Sam turned to creativity,

After taking an art A-Level she did a one year art foundation course, followed by a degree in fine art. In some ways however, this didn’t fulfil her creativity in the way that she might have hoped. “At university you had to specialise, and actually I like working with lots of different materials. I work with natural materials, I like to do watercolours in my creative journal, I love paper collage but it is textiles that are my thing, my go to. I specialised in photography but it wasn’t so much that I wanted to be a photographer, it was the process in the dark room, of creating that story.”

Sam also found that the grading around art felt counterintuitive to her, that the process of marking art actually excluded what it

should, at it’s very heart, be about. It was also hard to imagine a future in art. At the time she felt that the focus was that you either became a renowned artist like Tracy Emin, Damien Hirst or Rachel Whitehead, or you became a teacher, fortunately there are many more professional creative pathways today. Although Sam hadn’t wanted to teach when she reflects back now she finds it interesting that whilst she did not become a teacher in her role as an art therapist she is a facilitator, and central to teaching is facilitating meaningful learning and discovery. “I was always investigating human emotion, and how the process of creativity supported lived experience. So, if I look back now it’s so obvious.”

After graduating Sam embarked on a career in advertising, and was living and working in London when she met her husband, who like Sam had grown up in Hong Kong. They eventually decided to move home to Hong Kong in order to start their family, welcoming first a daughter and then, after a difficult pregnancy, a son they called Matthew into the world. “Life changed really, from the moment we had Matthew.” Although he met all his physical milestones something felt different to Sam, but she reassured herself that it was because he was a boy and so therefore different from his sister. “He never slept, he literally never slept. It was utter trauma, I can’t explain the sleep deprivation and

what that did to us as a family. I think we were just so sleep deprived that we just couldn’t see the wood for the trees.”

A visit to the doctor when Matthew was around fifteen months old changed everything once again when the doctor asked Sam if Matthew had any words yet. He didn’t. They were offered an assessment with an occupational therapist (OT), who in turn referred them to a clinical psychologist who conducted a full assessment when Matthew was around eighteen months old. By the time he celebrated his second birthday he had received a diagnosis of severe autism and went on to subsequently receive a profound learning disability diagnosis also.

When it was time for Matthew to start kindergarten he went to the setting his sister had been to, and because they already had a strong relationship with the school, they felt they had a good support system in place for him from the beginning. He struggled however, and Sam used to sit in the car and wait, never knowing if he’d be there for twenty minutes or for the whole morning.

“He quickly became much too disruptive for the other children, because if I look back now he was so developmentally delayed it was like putting a baby into a toddler group. It was chaos. So hence when I dropped him at school I would sit and stitch in the

“Art was all I ever wanted to do.”

“All I ever did was create, I stitched, I drew, I made stained glass… I’ve always enjoyed being creative.”

car. This is where my (own) creative journey started again.”

During this time Sam set up a small independent creative business called Matt & Milly making beautiful decorative name labels for children, in large part because it was something she could do whilst sitting in her car waiting for Matthew. Sam dreamt of one day being able to make bespoke embroidered curtains and other items for interiors for children,

Embroidering the labels, gave her a small space that she could control. “I would do everything with a very tight backstitch. For a backstitch you make one stitch forward and then one stitch back, and then forward again and then back again, so it was almost like not getting anywhere but actually I was making slow progress as I went along. It took me years to stop doing the backstitch because it was also a form of control and perfection. Looking at it now as I do as a therapist, I was looking for that sort of perfection and control, but also I was so stuck in that time. So stuck in fear, and stuck being just overwhelmed, and so, so tired, just so tired.”

Unexpectedly their lives were once again changed when Matthrew didn’t get a place at a special school in Hong Kong. “They said there wasn’t a space for him but I think they already knew that his learning difficulties and behaviour were too complex for them to be able to really support him and to meet his needs. We found a school in Singapore that accepted him, it was an amazing school and so we moved our whole family there, almost overnight.”

The four years they spent in Singapore were happy ones, a time where they were each able to grow and thrive in their own way. Sam returned to University to do a Masters of Arts in Art

“I couldn’t do that because of Matthew’s needs. So I started making these labels which were managable. My car was full of thread ends but I was creating something beautiful out of the chaos.”

1. Support Net (2016)

2. Overwhelm (2023)

Therapy at Lasalle College of the Arts. The course ‘is a practice-based, intensive training programme that emphasises experiential learning through art making, reflection and research.’ As part of the course students had to undertake their own therapeutic journeys, and for Sam “the course unpacked a lot of stuff that I was unconsciously holding and I wasn’t expecting that. I thought I was ‘fine’. Of course with art therapy it is all about unpacking the unconscious.”

After graduating she was delighted to be offered a permanent role at the Singapore Cancer Society where she had completed her clinical placement. After a year with them she was heartbroken to have to leave, as once again Matthew’s needs saw their family move, this time to the UK. They had, Sam clarifies, known that they would very likely need to move to the UK eventually in order to give Matthew the support he needs. They chose Bath as it was a city they both knew, and were full of hope when he was offered a place in a fantastic small school offering the education and support they felt he needed. “As Matthew was getting older his behavioural needs were getting unmanageable. He needed a continuous, very set routine supported by sensory based learning.”

Devastatingly for the family within just a few months the global pandemic struck and Matthew’s school was closed almost overnight,

leaving him unable to attend for six months.

“In that time, the wheels totally fell off because we’d lost everything. We’d already left our home and all our family and friends, and then we’d left this beautiful place (Singapore) where we’d actually got things quite set up and were quite settled, to then come back here only to become full time carers with no help. Matthew didn’t understand why he couldn’t go out, but we couldn’t take him out anywhere, not only because the parks were closed but because we were meant to be socially distancing and he just didn’t understand it at all.”

Now three years on the family are still processing the effects of the lockdowns. For Sam her creative art practice has once again offered a space in which she can try to work through her conflicting feelings about the decisions they felt forced to make for both their children, and for their family as a whole.

Although it isn’t always easy Sam has chosen to be open about their situation, and about the struggles they and she have faced over the years. Because she strongly believes that in sharing our truths and our realities, we can help one come to a place of understanding and acceptance, even of the lives we did not expect to lead. “Matthew changed our life. I grieve the life that we don’t have and sometimes I am insanely jealous of people who seem to have all these amazing holidays, or just get to go to the pub with their kids on a Sunday and meet up with other families. All that sort of stuff that I just can’t do, but I can’t get over what Matthew has given me, which is a real appreciation of what is important in life. It’s so profound what he’s done for me.”

One of the reasons Sam had wanted to become an art therapist was to work with SEND parents (parents of children and young people with special educational needs and disability) as she has had first-hand experience of how little support they typically receive to look after their own wellbeing. Because for her “art has really helped me to

“Parents with children that have complex needs will always feel guilty, and the decisions aren’t easy and so you just have to do what feels like the right thing at the time sometimes. It

doesn’t feel right, it never will… I think if I didn’t have art therapy, I would have fallen apart for sure, because it really keeps me grounded.”

cope when things were overwhelming, and to process it all.” She is determined to try to offer others that same opportunity to experience the healing power of creativity.

Now that the family are all able to return to their own daily routines Sam is in a place where she can offer that support. She explains that there were some unexpected positives that arose from the adaptations we all had to make during the lockdowns, most notably the near global shift in the way many of us now feel truly able to work and connect in an online space. Accordingly she is now able to run group sessions online in a way that might previously have been unimaginable.

Sam clarifies this further by explaining that for parents with huge caring responsibilities, especially this new online connectivity, has helped to make so many more opportunities accessible to them. “It just widens their connections, you would think it would disconnect, but actually, it’s been amazing because it’s simply not always possible to travel to a conference or meet in person.”

Through her art therapy practice Sam creates a safe space in which people can work through the difficulties they are experiencing though a carefully guided process of self-reflection. “Everything is about the process and as an art therapist I’m always considering what materials I’m using, or what creative prompts I’m giving.” She continues to explain that it is the very process of creating that opens up the space to reflect on and examine our challenges, because it’s the creativity that really taps into what you need to know. “Whilst I can’t change someone’s situation hopefully, the creativity can give them the insights and awareness to see that the answers are within themselves”

Art has been the continued thread that has been woven through the very fabric of Sam’s life, and the stitches that she sews are often a literal interpretation of her emotional journey; “I use all sorts of stitches now, and my stitches are much more free.” Her art, and the process of creating and being creative has brought, and still brings meaning, joy and possibility into her life. “I think the biggest thing for me is that my journey as a special educational needs parent and as an autism parent has been a grieving process. My art has supported that grieving process. It has metamorphosized into a new career because I know that the creative process of making art, of connecting with nature, can connect you back to yourself. It has given me a profound sense of purpose and an understanding and acceptance of our situation and the turn that my life took. It has given me confidence, strength and empathy.”

“This way of working is relatively new, but it feels like it’s a really good solution because it means that people from across the country can access the same support.”

3. Inner Compass (2021)

Now that life has once again settled into a period of stability and growth she is able to work both as an artist, sharing and showcasing her work, and working as a socially engaged artist with community groups and within her private practice. To find out more about the workshops and groups Sam will be offering from September 2023 you can visit her website

About Sam

Samantha Hickman is a qualified Art Psychotherapist, gaining her degree from LASALLE College of the Arts, Singapore. She also holds a BA (Hons) degree in Fine Art from University of Plymouth, UK. She is a member of the British Association of Art Therapists (BAAT) and is HCPC registered. Sam completed her clinical placement with the Singapore Cancer Society and went on to employment with the organisation before relocating to the city of Bath, UK, in 2019 where she has since worked in socially engaged community and private practice, see her website for details of upcoming courses and workshops.

About the artwork

1. Support Net (2016) | Mixed Media sculpture

I created this artwork to remind me of who/what supported me/Matt. Each component represents the people, places, pets, and organisations that were integral at that time and have become a lasting memory and reminder that these things change over time so it doesn’t always look the same as it did.

2. Overwhelm (2023) | Collage

This artwork reflects the myriad of emotions that I felt when Matt was first diagnosed. Judgement, rage, grief were ever present and I felt overwhelmed by life in general at that time. I made this artwork recently and so it shows what I needed at that time but only really know now, and that was a space to stop and create to be able to think/work. Finding the quote felt like serendipity.

3. Inner Compass (2021) | Mixed Media Textiles

This artwork relates to Art Therapy and that becoming an Art Therapist have given me my True North in life, providing me with direction, purpose, and meaning.

4. It’s A Wonder Morning! (2021) | Mixed Media Textiles

This artwork was created to celebrate a new phrase that Matt could say, which was his version of “It is a wonderful morning”. In Chinese astrology, he is a Tiger and he loves music and nature. The tape measure ribbon at the sides represent my love of textiles/ embroidery as my coping mechanism but also reflect our ages, his on the left and mine on the right (I was 37 when he was born). Multi-coloured metallic thread beam out around him as he really is a ray of sunshine.

4. It’s A Wonder Morning! (2021)

HYGGE AUTUMNAL

HYGGE – (Pronounced Hoo-ga)

This is a Danish word that cannot be summed up easily and is often referred to as a feeling rather than something that you can name, so it’s unsurprising that there is no direct translation, but it has been referred to as, ‘a mood of cosiness, a quiet comfort and a feeling of contentment and joy.’ The Scandinavian countries are classed as some of the happiest in the world, ranking consistently in the top 10 every year, with Finland holding the top spot for the past 6 years. Perhaps surprisingly with the lack of daylight in the dark winter months, so instead we can all take a leaf out of their book. Autumn is a perfect time for us to build our hygge. The dark damp days are drawing in and we need to look for things to give us the joy and lightness that the summer months tend to bring. The thing with hygge is that it differs for everyone. Here we look at some simple ways to bring you a sense of contentment and well-being while boosting your endorphins and de-stressing!

Photography by Ceridwen Hughes

Food & Drink

Of course, feeling content and well can have an awful lot to do with our diets. We recommend hearty, simple meals that don’t require a day slaving over a stove. A simple filling soup with freshly baked bread can give you a much-needed vitamin boost while warming and satisfying you. A comfort food classic such as a slow-cooked stew packed with fresh ingredients can be enjoyed by your friends and family without too much effort spent cooking, giving you the feeling of joy and comfort in spending time with the people you love. Of course, if you feel able you can always try to bake your own fresh bread as an accompaniment. Hygge drinks likewise are comforting and to be savoured. Not a smoothie grabbed on your way out of the door, a plastic bottle of water or a rushed takeaway coffee or tea in a paper cup. You need to enjoy the feeling that the drink will bring, such as an indulgent hot chocolate on a cold day. A pot of freshly brewed coffee enjoyed with a freshly baked danish pastry always gets our vote. Others prefer refreshing cups of warm teas, of which we know there are so many to choose from. Then of course there are the warming mulled wines and ciders that you can enjoy in the company of friends. The choice of course is personal to you. Having a warming cup that fits perfectly in your hands can be a simple joy in itself.

Home comforts

As the cold, damp evenings draw in many of us retreat into our homes. This is THE place to be hygge! Keep things de-cluttered as much as possible, giving you the space to relax. Layer up the sofa with snuggly throws, have soft lighting in the home and finally - light your candles. After warm drinks candles are most linked to hygge. The Scandinavians keep things as natural as possible, so don’t worry about scented candles, just the flicker from good beeswax candles will help set the mood. Of course, we do love a good, scented candle, so go for whatever works for you, after all, hygge is different for everyone. We particularly enjoy pumpkin spice’s warm, comforting scent this time of year. There is nothing better than grabbing an old favourite book or a crisp new one with its distinctive new book smell, to enjoy nuzzled under your blanket.

Crisp clean bedding to fall into at the end of the day is, without doubt, a joy. Enjoy a soak in the bath or a shower with your favourite natural products to help you relax, feel more content and sleep easier. Importantly switch off the TV and stay away from your phone. Enjoy the peace and saviour the calm away from day-to-day life. What could be more hygge! The luxury of being at peace without daily distractions.

Exercise

We all know the benefits exercise brings to our life, with the added mental health benefits alongside the health benefits. When we talk about exercise in the sense of hygge it’s not just about hitting the gym and doing your minimum 30 mins to tick the box, but it is more about the enjoyment and feelings that it produces. A stroll in nature, wrapped up on a crisp chilly morning can bring you a sense of contentment and an endorphin rush whilst being gentle on your body. Enjoy being in your surroundings and take pleasure from the sights, sounds and smells that are produced in nature. A gentle stroll is also a good time to catch up with a friend and enjoy each other’s company. Walking isn’t the only exercise that you can do, Tai Chi and Yoga can be gentle, and some classes specialise in chairbased gentle exercise too. Remember it’s about looking after your health and well-being whilst feeling de-stressed and contented.

Photograph by Kat Von Wood, Unsplash

Just because I can’t speak it doesn’t mean I have nothing to say

Just because I can’t speak it doesn’t mean I have nothing to say.

This simple sentence is a powerful reminder that individuals who do not have the ability to communicate using speech should still be given every opportunity to express themselves. Communication is vital for all of us, and whilst we use our whole body to communicate, from our physical bearing and posture through to our hands, our eyes and of course our faces it is speech, and talking, that is central in most communications. Of huge significance however is that the ability to communicate effectively is often tied into important assumptions that we make about the intelligence and competence of others, which is of course a huge issue for those who do not have an effective means of communicating.

Suzanne Martin, NHS and Local Service Development Manager for Ace Centre and a hugely experienced Speech and Language Therapist with over twenty years’ experience explains that “there is a difference between speech, which is the noise that comes out of our mouth, and the thoughts, ideas and language that exist in our head. People who don’t have any production of noise do still have lots of thoughts, ideas and language in their head to share. There is a real separation between the two, and just because you don’t speak it absolutely doesn’t mean you don’t have things to say.”

In conversation with Suzanne Martin, Ace Centre

Photograph courtesy of Suzanna Martin

‘Presume competence’ is a powerful principle that is often cited in the areas of intellectual disability and communication disorders. In 1984 Anne Donnellan, a hugely well-respected researcher in the field of special education wrote “ ...the criterion of least dangerous assumption holds that in the absence of conclusive data, educational decisions should be based on the assumptions which, if incorrect, will have the least dangerous effect on the likelihood that students will be able to function independently as adults” 1 . Donnellan’s reasoning was that teachers should work on the assumption that all students, regardless of their individual situation, are able to learn, indeed, are competent and should be provided with every

opportunity to grow, learn and develop. If, having been provided with every opportunity to learn they do not appear to learn then the consequences of this are not as damaging, or dangerous, as the alternative. Suzanne clarifies that “you don’t know what somebody can do until you start providing an intervention, and then monitoring the observational data that comes out of that intervention.”

The central vision that underpins the work of the Ace Centre charity is a ‘society where everyone is given the support they need to communicate, be understood and fulfil their potential.’ Through providing the ‘support, advice, technology and training to enable people with complex communication needs to express themselves’ they work to ensure that even those with the most complex communication difficulties are offered the opportunity to access a way to communicate with the world around them as effectively as possible using a range of Augmentative and Alternative Communication (AAC) and Assistive Technology (AT).

Although the term AAC is often used in its abbreviated form Suzanne notes that for most people the term means little. In addition, the terms used do not fully reflect what it does, nor make it clear enough that rather than simply being a form of technology it describes a set of communication strategies. She explains that in this context ‘augmentative communication’ refers to strategies and technologies used to support existing speech.

Photograph courtesy of Ilmarie Braun

“For example, you may have some speech but it’s difficult to understand, perhaps because you’ve got a quite severe dysarthria... [you might] use the AAC technology to augment your speech, as a clarification tool for your own spoken output.”

“‘Alternative communication’ means it (the method used) completely replaces your

speech and it is used as if you were speaking, and you use it all of the time. It’s primary purpose is to completely replace speech where there is no spoken output being produced.”

It is important to be clear that AAC is not the technology, but a set of strategies which can be both aided and unaided. An unaided strategy is used to describe the situation when an individual does not need anything

Photograph by Ksenia Chernaya, Pexels

beyond themselves, so for example, it might be sign systems such as Makaton or British Sign Language, facial expressions, gestures or body movements to indicate messages. An aided system can be paper based, for example picture and symbol systems that can be presented on their own or in books and on a communication board. An aided system can also be an electronic voice output system, which might include a simple battery operated communication button which repeats a single word or phrase, through to an eye gaze used to write sentences which are shared as speech.

Suzanne describes that previously the terms lowtech and high-tech were used, but this created a perception that paper based systems were therefore somehow lesser, and that to move over to an electronic system would indicate a progression, which is not useful as for many people a paper based system is the better option and is also capable of supporting very advanced communication.

With the increased public awareness of the scope and possibilities that might be opened up through accessing AAC there can be high hopes or expectations that with the provision of an agreed AAC intervention that all barriers to communication will be removed. Stephen Hawking was perhaps one of the most famous and prominent people in history to use AAC to communicate. Typically Hawking did not use his fame or platform to discuss disability issues, but when he did his words

“For some people paper based resources, which is what we call lowtech now, is much more efficient, much quicker, much more reliable, and can be used in all the

environments that they’re in, and they can be used in all the different positions they might be in across the day.”

carried huge weight, and attracted much needed attention.

In 2011 he agreed to write the foreword to the World Report on Disability 2 where he chose to emphasize the importance of people with disability having access to the equipment that they need; “we have a moral duty to remove the barriers to participation, and to invest sufficient funding and expertise to unlock the vast potential of people with disabilities.”

However, Suzanne is clear that in order to be able to successfully access AAC the majority of children will need more than just the

provision of AAC, they need to be given ample opportunity to learn how to use language and to build the foundation for developing communication skills. For example, a typically developing child will start by making babbling sounds, and we, as proud parents, will likely respond with delight and praise, interpreting the sounds they make into words which we begin to map some meaning onto, and repeating the sounds and words back to them. As they develop their speech toddlers learn that through

using their words they can begin to interact with and control their environment, perhaps by asking for and then receiving a drink. Suzanne explains that “for the majority of children with complex disabilities, regardless of their cognition, they’ve had a lack of experience of interacting in the world, so they’re going to have an element of a language delay. They just haven’t been able to use language in the same way as a typically developing child, to test it out and get feedback, to learn how to say things and how to refine how you say things to be more specific, or to be understood.”

This sort of interactive language development and learning is not easy to do using technology, and so it is really important that children are given ample occasions, space, time and different learning opportunities to develop their understanding and ability to use language in meaningful ways. Simply put, “it’s a learning process, it’s a learning journey, and we have to scaffold their learning. We have to present learning in a different way. We may have to adapt but ultimately the principle is

“Being able to communicate is the most important skill we need in life. Almost everything we do involves communication.”

Photograph courtesy of Ilmarie Braun

exactly the same as natural language learning, it’s the same process underneath the AAC strategies and tools through which we do it.”

For Suzanne this is the true significance of what it means to presume competence, it is about giving people the opportunity to learn. To learn and develop their language as well as ensuring they have an appropriate communication method to access shared communication, or more broadly, speech.

The different AAC systems also need to be assessed within the context of how they are accessed, and if this suits the person who will be using them. For example a child with very limited independent upper limb function might not be able to turn the pages of a communication book, but would need a partner to operate the system for them by turning the pages, rather than being operationally independent. However,

in those early stages of building and developing language this two way, reflective and perhaps even intuitive interaction between both people more closely resembles the way in which we typically develop our language skills. As the child’s understanding and cognition develops they can absolutely use a shared partner based AAC system to be fully autonomous in their communication. For example the child will have a thought or idea that they want to share, the partner operates the system but doesn’t have any idea what the message is going to be but is simply turning the pages and giving voice to the options shown, in reaction and response to the established prompts given (perhaps a sound or a tap). This way the message is then communicated, initiated by the individual themselves.

From here it might be appropriate to introduce an AAC system which the child can operate more independently, for example an iPad using the same software that was used to create their communication book. At times Suzanne has observed that the drive to ensure an individual can use their AAC independently is a misplaced one, as many individuals might never achieve operational independence but this does not mean that their communication is not

independent. Physical independence does not equate to a higher level of understanding, or of competence.

When the decision is made to try to support communication for an individual though the introduction of AAC strategies and technologies it is not as simple as identifying the most appropriate one and then providing it until such a time as a different system is needed.

As well as supporting the development and learning each user needs to access their AAC, it may well become clear that more than one system would be of benefit to the individual user. When we reflect on the way in which we each might communicate on an individual basis it’s clear that we do so in many different ways. Ace Centre advocate for this, believing that we all need different and/or multiple tools in our toolkit.

“Sometimes I send a quick text message, or I might send a voice note. I choose to send an email sometimes, or sometimes I choose to pick up the phone and actually verbally speak to somebody... I have complete control over that as a verbal communicator, and I’m able to access technology as I choose.”

“For the majority of children, regardless of their cognition, they’ve had a lack of experience of interacting in the world, so they’re going to have an element of a language delay.”

The team at Ace Centre work with a client centred focus, and throughout the assessment process they work on identifying and defining the different features that are going to be critical in supporting each individual to be able to access AAC to support their communication. “If they need symbols then what symbol set is best? Are they used to Boardmaker 3 symbols? What have they been exposed to before? What features of technology might they find useful? Both hardware and software… sitting alongside that is then how are they going to physically access the AAC? We call this layered, multi-faceted process the feature matching process, which is the best practice in AAC assessment.”

In the introduction to their ‘Other Ways of Speaking’ booklet 4 The charity Communication Matters state that “being able to communicate is the most important skill we need in life. Almost everything we do involves communication.”

For people with complex communication difficulties it is absolutely vital that they are given every opportunity to

learn and to nurture their language development and communication skills, as well as being supported in identifying and accessing the different AAC strategies, tools and technologies that they might need in order to do so. For Suzanne the key to true communication is this, “it’s about what is autonomous, the true authorship of a message and I think that we get really distracted in AAC with producing outputs, not outcomes. I’m really passionate about the authorship of messages. Is it what they truly wanted to say.”

Because if we can ensure that everyone can say what they mean to say, using the AAC which best supports them to do so, then they can truly reach their full potential.

1 Donnellan, A. M. (1984). The Criterion of the Least Dangerous Assumption. Behavioral Disorders, 9(2), 141–150. p.142.

2 World Report on Disability 2011 - read here

3 Boardmaker is a computer software program using Picture Communication Symbols [PCS].

4 Other ways of speaking booklet (free resource) - read here

Photograph by Markus Spiske, Unsplash

About

Ace Centre is a charity providing vital Assistive Technology (AT) and Augmentative and Alternative Communication (AAC) services for people with complex needs. Information and advice services, training and partnerships as well as delivering the NHS England Specialised AAC Services in the Thames Valley & Wessex and Northwest regions. All the services are delivered by a multi-disciplinary team of specialist teachers, occupational therapists and speech & language therapists with the support of technical and administrative staff.

Suzanne Martin is the NHS and Local Service Development Manager for Ace Centre. A highly experienced Speech and Language Therapist Suzanne has worked in the field of AAC since 2000, both in the UK and Australia, and is HCPC registered and a member of RCSLT.

Over the course of her career she has worked in a range of settings including NHS, special schools, charities, private practice and project work. Of the many projects she has been involved in over the years Suzanne is most proud of her work on those projects that have focused on the implementation of AT and AAC in educational environments, creating aided language environments, affecting culture change and developing the Pragmatics Profile for AAC. She began her role as a Senior AAC Consultant for the Ace Centre in 2012, and now delivers the NHS England Specialist AAC Service in the North West Region.

Humour is our medicine

In conversation with Michael and

“With Levi and Lucas we were kind of thrown into the unknown. We just didn’t realise how hard you have to fight for everything for people with disabilities. You really have to battle for everything.”

Michael and Paul Atwal-Brice are used to fighting for what they want, for what they believe in, and for the people they love. After all, when they first met the future that they would one day share was not one that they could truly dream of, and the life they have now was not one that was possible then, or even legal. The Atwal-Brice’s are dreamers and fighters, and together they have worked hard over their 22 years together to ensure that the life they hoped to lead is a life they can,

Images courtesy of Michael and Paul Atwal-Brice

truly prepare them for everything that comes with being the parents of children with complex medical needs and learning disabilities.

Michael and Paul first met in 2001, and after civil partnerships were established they chose to cement and celebrate their love in 2008. However, after the Marriage (Same Sex Couples) Act came into force in 2014 they were devastated to learn that they would not be able to get married as they were already in a civil partnership.

They decided to challenge the government, successfully, to the joy and relief of countless other couples who were also in their situation, with the government putting new systems into place to allow marriage without the need to dissolve a civil partnership first before the year ended. They also became one of the very first samesex couples to be formally registered as foster carers in South Yorkshire, and have gone on to care for well over 20 children over the years.

In 2008 they made the decision to adopt identical twin brothers, Levi and Lucas, who were two years old at the time and although they were aware the boys were ‘a little delayed’ they’d assumed they’d catch

up once they were settled into a loving home. The complex nature of the boy’s disabilities only became clear over the coming months and years. Reflecting on those early days they explain that “We were thrown into the unknown. I think if you were to look at Levi and Lucas, and write everything down on a piece of paper, their different diagnoses and everything, then I think as new parents you would possibly run a mile thinking we couldn’t deal with, or cope with that, but for us it was too late because the strong attachments were already there.”

It was this decision which truly changed their lives in ways they couldn’t begin to imagine. A life of highs and lows, of hope and worry, the complicated and unexpectedly beautiful life of parent carers. In 2020 they adopted another set of identical twin boys, Lance and Lotan. Paul explains with real honesty that before they arrived he was worried that he would not be able to love them as much, that his love for Levi and Lucas was such that he simply wouldn’t have enough love left to offer the two younger boys. “When we became parents to Lance and Lotan I actually really struggled a bit, and I’m very open about this, because the

love for Levi and Lucas is so intense, and I used to put so much pressure on myself thinking ‘but how will I love two other children like I love Levi and Lucas?’

The first few months of family life were not always easy when Levi and Lucas first arrived to live with them, but as fairly experienced foster carers they’d not expected it to be. The issues they were experiencing were more complicated than anticipated, and gave rise to new concerns, and new assessments. The boys were three years old when, at a multi-disciplinary meeting with a large group of the medical professionals involved in their care present, Michael and Paul were told that their

But then you realise that actually you don’t have a limited amount of love, there’s a lot of love to give.”

sons had both been diagnosed with severe autism.

It is worth clarifying that the definition of autism has changed over the years, and the language used to describe autism has also changed, and will in all likelihood continue to change in future years as we understand more, and as conversations continue. However, in the context of the diagnosis that the Atwal-Brice’s were given, and at the time that they were given it ‘severe autism’ was one of terms used, along with ‘level 3 autism,’ to describe the most significant level of autism. Accordingly, the diagnosis indicated the probability that the person would be nonverbal, with restricted social communication skills,

sensory processing issues and behavioural challenges. People with severe autism typically require substantial support, often including 24-hour-aday care.

After they were diagnosed and given this new label, a label that would set them apart for the rest of their lives Paul explains that “I just cried because they’re given this label and now they’re going to be known as this label and they’re not going to be known as Levi and Lucas, who are just children.”

Reflecting back on this time they explain that “we went through a phase where we resented the world, and we hid away because the world was so judgmental. I would say it was a stage of mourning, for Levi and Lucas, due to the fear that they can’t do this, can’t do that, that there’s nothing here for them. Then we had almost a lightbulb moment where we realized that they are the people we love the most, so why are we mourning them? We needed to turn that around and to start celebrating who they are, accepting who they are and showing the world that it is absolutely fine to be different.””

It was then that they felt what they describe as a natural desire to fight to make the world better for their children kick in, and they knew that actually they were more than capable of stepping up to the unexpected challenges life now presented them

with.To once again fight for what was right, and fair, and inclusive, this time for the boys that they loved to be able to live a life that they could not only enjoy but thrive in.

Their determination to focus on being happy, and on making the world a better place for their boys was severely tested when, around six months later, first Lucas and then Levi began to experience seizures. The onset of their complex epilepsy once again changed everything. It is hard to truly describe the fear, the pain and the sheer trauma that comes with watching a loved one seize uncontrollably. The wait for the ambulance. The relief to finally be rushed to hospital, lights flashing and siren blaring. The relief is short lived, overshadowed really by the fear that they are still not truly safe, that it is not over, that everything is still in the balance. Whilst as parents we can grow, adapt to and hold even the hardest of spaces for our children, it does not mean that we ever truly come to terms with the hand they have been dealt.

“With Levi and Lucas we were kind of thrown into the unknown. We just didn’t realise how hard you have to fight for everything for people with disabilities.

“What a tough journey we’ve been on with their epilepsy. People ask us sometimes ‘would you change anything’? Yes, absolutely! The only thing we would ever change with Levi and Lucas is the epilepsy, the medical side of it all. Their autism, we wouldn’t change that for the world because that’s who they are. We don’t want them to be any different. But medical health wise, absolutely, we would change it if we could.”

There is a well-used phrase, often varied slightly as needed for the context, but which essentially states that as a parent ‘you can only be as happy as your unhappiest child.’ If you have not one, but two children whose lives are overshadowed by complex

epilepsy this rings especially true. They are both frank when talking about their own mental health, and the way in which they are both affected by their sons’ intractable epilepsy.

“You have people who have epilepsy which is well controlled, and they deal with it, maybe they have seizures every now and again. For us, we are in the life threatening category with the severity of their epilepsy. It’s just horrendous when you’ve got a child who is ventilated and in the PICU (Paediatric Intensive Care Unit) because of his epilepsy. Now, years down

the line, I’m very open about saying every time we hear a bang in the house we are on edge. We just think the worst. I really believe that from that moment when Levi was first ventilated all those years ago on PICU, that that experience has given us some form of PTSD without a doubt.”

The reality is that family life is busy with four boys, the fact that two of the four boys have complex and demanding additional needs in all aspects of life only adds to this. Life was always going to be challenging. Challenging does not have to mean difficult, life can still be fun, chaotic

“It’s just horrendous when you’ve got a child who is ventilated and in the PICU (Paediatric Intensive Care Unit) because of his epilepsy.”

maybe, but full of happiness, laughter and just the joy that a thriving busy household full of children can bring. The emotional toll that watching your children go through deeply traumatic experiences takes is not to be underestimated and yet it is.

There is very little meaningful support out there for parent carers and what support there is tends to be focused on practical help. Perhaps the offer of a support group, or vouchers for the local gym, maybe even some brief periods of respite. Emotional support, counselling, and meaningful therapeutic frameworks are simply non-existent across most of the country. Years of funding cuts, of local authority social care budgets being slashed, of over-burdened health trusts means that for as

long as parent carers can just about keep going then their needs are not just ignored, they are simply not considered. Now, after years of struggling, of not talking about how they were feeling, they are both open about their reality in the hope that meaningful conversations around parent carer metal health can begin. Paul explains that “I’m very open about talking about it now. At first I wasn’t ready, but now I am absolutely open, and trying to make people aware of the impact it has on parents, on their emotional well-being.”

Michael and Paul have found their coping mechanisms in each other. Initially they planned that Paul would stay at home whilst Michael worked. However, after it became apparent that he was drowning in appointments and facing an overwhelming daily battle to try to keep on top of their busy household, as well as dealing with the huge disruptions that come with all medical emergencies, Michael gave up work also. The reality is

that to meet the needs of all their children they were not able to simply be parents but they had to both become full time carers. The day to day life of a parent carer is hard. Indeed as Michael explains, it can actually be far easier to leave the house and go to work every day than it is to care for complex children like Levi and Lucas, not just daily but 24/7. Here too they are able to find support, comfort and relief in their shared, dark sense of humour.

“We take the p**s out of ourselves, and out of the situations we are in because humour is our medicine. It really, really is! No question about it, it’s bloody hard work. It’s emotionally draining, physically draining and mentally draining. But I think there is no choice, so you get on with it. You can’t mope about dwelling on things. So yes, we absolutely have our bad days where we feel like we can’t cope and that whatever we’re doing is never enough. But you can’t get into that way of thinking, because if you do you can’t get out of it.”

Not allowing yourself to become mired into a negative way of thinking does not mean not talking about it. It does not mean you can’t acknowledge and accept that it’s hard or ask for help. Rather it means being honest about all of those things.

It’s about saying that yes, life can be hard, for all of us, but especially for parent carers. If you can try to make life fun, to work together, and to try to find happiness wherever you can, then you can get through it, and your loved ones can thrive in their own, unique ways.

“We started celebrating who they are, accepting who they are and showing the world that it is absolutely fine to be different.”

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THE MENTAL HEALTH OF PARENT CARERS

Contributed by Anne Dewhurst

I’ve struggled writing this piece. Not because I haven’t got anything to say; rather, I’ve got far too much to say. And where do I start? So I’ll just blather and hope it makes sense.

In my opinion, parenting a child with additional challenges is not for the faint-hearted. Life can throw us many a curve ball. It can be physically demanding. It can take its toll emotionally too. Sometimes there are prolonged periods of stress, sometimes peaks and troughs.

To help us cope I think it’s very important not to bottle up how we’re feeling and feel able to express our thoughts to people who ‘get it,’ that can be very cathartic.

I came across a couple of studies from the US which focussed on mothers (no mention of dads here, unfortunately) of adolescents and adults with autism, looking into how they experienced

chronic stress which was comparable to that of combat soldiers. The mothers experiencing high levels of behavioural challenges from their children had the most pronounced physiological profiles of chronic stress. Whilst my girl, Hannah, has a diagnosis of ASD, she also has a rare condition, which affects her in so many other ways (far too many to mention here that’s for sure). At times, life has been incredibly stressful but joyful too.

Here’s the thing (and I can only speak for myself on this);

The stress I experience isn’t Hannah’s fault (we’ll skip over the time she kicked over a café table FULL of crockery and thought

it HILARIOUS when it all smashed. Oh, and the… .*coughs* apologies, I digress).

Rather the episodes which challenge my emotional health have been, and are, varied and come from others or elsewhere.

First off, coping with shattered dreams and aspirations and an initial life changing diagnosis (and many subsequent ones) –when I was led to believe baby was perfectly healthy – took its toll emotionally.

Photography by Ceridwen Hughes

In the early days there were times I cried in the shower. I wasn’t depressed, just stressed, scared and overwhelmed. Quite understandable, given the circumstances! Being sad too, and allowing myself that time, felt the right thing to do. However, talking – but talking to the right people, has been beneficial. Like the rest of the population, we can’t be jolly all of the time, especially when life’s been turned upside down. We ought to be allowed to lick our wounds every now and then, don’t you think?

Then there was the juggling of many appointments whilst trying to protect a little bit of time just to enjoy my baby. I subsequently didn’t know who I was anymore and it took time to find the ‘new me’.

Those little reminders here and there over the years of how life ought to be, but isn’t and never will be, also (still) poke at my heart. However, with time, I’ve learned not to let those feelings fester. The stares. The comments. They’re less annoying these days, but still have a negative effect.

There are behaviours my girl displays that can be stressful – especially when she’s hurting herself. There are times when my heart feels like it’s going to break completely whilst trying to support her through the challenges she faces. There are also times *coughs*

when I’m relieved to wave her off on the school bus, just to have a breather for a while (but honestly, name ANY parent who’s not glad to see the back of their kids for a short while…I’ll wait).

Of course, and as you may be aware, parenting a child with extra challenges isn’t just that.

There’s also a plethora of other things that can impact negatively - PTSD, money/ housing/employment issues, lack of support, being hyper vigilant, sleep issues (lack of), loneliness – feeling socially isolated when people just don’t get your life anymore or want to be around your child, etc. etc. and etc.

However, for me, it’s the “battle” that has the potential to have the biggest (negative) impact. And that seems to be a word often used to describe the constant

fight to maintain or acquire services and support for our children. It shouldn’t be this way, but it is.

Which ties in nicely with the ever popular ‘Blame Game’ (not a television game show) – when parents, like me, have to jump up and down, and sometimes get a bit shouty, and are subsequently labelled as being “that” mother, the one who is ‘difficult’ and/ or choose your own juicy expletive here!

A major research report published in July 2021, which highlighted the ‘Blame Game’, found that most English children’s services authorities operate a ‘one size fits all’ approach to families (quelle surprise!) The guidance which directs

the process for assessment was considered “not fit for purpose…arguably unlawful” within the key messages of this report. You can read the report if you’d like to, here, it’s pretty damning. The sad thing is it needn’t be this way.

No parent ought ever to feel worried about asking for help; they probably have enough to worry about already. However, the report suggests there’s a focus on parental fitness, rather than local authorities stepping up, funding and providing the services children need. Most parents I know want to provide a safe and loving environment. They care, deeply. They want the best for their poppets but It’s probably easier for an organisation to deflect attention when support is lacking, rather than owning up to its failings. Playground tactics, sadly.

It goes without saying that I’d much rather my days weren’t spent chasing and challenging but when you’re navigating broken systems, whilst advocating for a vulnerable child, needs must and all that. Unsurprisingly this cannot fail to take its toll on a parents emotional health.

Stress not only triggers the fight or flight response; it can have a negative physical impact and cause long term health problems. And we can’t be having that, can we?

“You must look after yourself” is one piece of unsolicited advice proffered over the years which makes me want to grit my teeth a bit too much. “I’m trying!” I want to scream into the abyss. However, my usual answer these days is “How? How can I do any better?” Usually there is no answer, or support, forthcoming. Those people mean well, I’m sure. I’ve learned over those years that nobody’s going to come and save me; I am the one responsible for me…and for a poppet who relies on me so much.

So what can be done to improve or maintain good emotional health?

Well, it’s not for me to give advice. I know what works for me, but may not work for others (Mindfulness is smashing though). There are coffee mornings and hand massages, they aren’t really my thing to be honest, but might be for someone else wanting to find their Tribe. And one of those (possibly one-size-fits-all) Local Authority parenting courses wouldn’t have helped me (but may help others).

What I do know is we all need a Tribe – no matter how small; it’s quality not quantity. There are organisations – like Same but Different - that are great sources of support. We need to try and eat…and healthily (healthy gut = healthy mind, although I consider chocolate and crisps medicinal of course). We need to talk - to the right people. We need to carve out a teeny-tiny bit of time for ourselves, sometimes regularly.

We need to acknowledge that NOBODY is ever failing if they ask for help.

On the days that aren’t so sparkly, we need to remind ourselves…

WE. ARE. NOT. ALONE. But if you ever feel that way, reach out; one of us who may be on a similar journey, will catch you.

Find out more

Anne: Anne writes a brilliant blog on Facebook, which is full of her candid and often humorous insights to their world. You can find her by searching for ‘My kid loves broccoli.’

She has also written, and co-written books, we’ve included the details below:

Cornelia de Lange Syndrome

– A Shared Journey:

The (little) Book of Broccoli:

Hannah: Hannah was diagnosed with Cornelia de Lange Syndrome whilst still a baby. CdLS affects between 1 in 10,000 to 30,000 live births and is present at birth. Individuals may display physical, intellectual and behavioural characteristics. However, it can be widely variable and not all people with the condition will show all of the aspects. For more information visit www.cdlsworld.org which can signpost to the different Foundations.

If based in the UK you can find out more at www.cdls.org.uk

The first International consensus statementtreatment and diagnosis protocol can be viewed here:

Images courtesy of Alex Braun

Time Away offers families who have a child with a serious, long term health condition, a break in self-catering holiday home accommodation. We have two routes to access our holidays. Our primary offering is for children under the age of 5 (in September) in receipt of higher rate DLA, this is to ensure that we support those children with really challenging health conditions early in their journey. We also offer last minute breaks for children of any age in receipt of higher rate DLA. You can read all about how to apply on our website.

If you could offer any advice to other families on their own rare journeys what would it be?

I’d love to be able to offer some insight, or words of wisdom and advice for a family starting out on a rare journey but much as each child is different, each families’ approach will also be different. I looked up the word ‘journey’ and the actual definition is to travel from one place to another. I think it’s really important to bear that in mind when thinking about your own experience, the place or the person you will be later on your journey will be very different to the person you were at the start of the journey. Although humans might not always like change, we’re actually very good at adapting, over time. Time will see you through to the person and the place that you need to be. So as much as possible try to remain open; to suggestions, opportunities and offers. Be willing to change and embrace it if you can. Listen to yourself. Expect to be sad sometimes and also to feel angry at times, and accept that these are normal emotions that enable us to move along our journey. But, most importantly, try to never let those difficult emotions overwhelm you for too long, and ask for help. We all need help from time to time.

What do you do for yourself?

I don’t really do enough for myself, it’s something that I need to get better at. In some ways starting the charity was part of a process of creating more time for myself and more time for my family.

I’m fortunate to have a strong friendship group so making time to see them is important to me. I’m generally happy to talk about my feelings and I try to make sure I talk about the things I’m struggling with, I think that’s really important. I also believe activity is essential, keeping the body moving, so going for lots of walks or going to the gym - although I really do have to force myself to do it!

Rare Navigator

Help when you need it

At Same but Different, we strive to make a positive difference to the lives of those affected by rare diseases. Through our Rare Navigator service, we offer emotional and practical support and information to individuals, their families and all involved in their care, from the point of diagnosis and beyond.

At Same but Different, we strive to make a positive difference to the lives of those affected by rare diseases. Through our Rare Navigator service, we offer emotional and practical support and information to individuals, their families and all involved in their care, from the point of diagnosis and beyond.

Our individualised support and advocacy service aims to ensure that each family is able to access the level of support they require to meet their needs. Our team can help you to access beneficial services and equipment, and can provide helpful information, tools and resources that encourage understanding of rare diseases and how it may affect your family.

Our individualised support and advocacy service aims to ensure that each family is able to access the level of support they require to meet their needs. Our team can help you to access beneficial services and equipment, and can provide helpful information, tools and resources that encourage understanding of rare diseases and how it may affect your family.

We work closely with national and local health and social care providers to ensure that our families are informed and have access to optimum care, treatment and services that can assist daily life and increase opportunities for independence and social interaction.

We work closely with national and local health and social care providers to ensure that our families are informed and have access to optimum care, treatment and services that can assist daily life and increase opportunities for independence and social interaction.

Our support area of North Wales will be expanded for the time-being and if we can't help you, we will put you in touch with our colleagues in disease specific support organisations. Katy Parry has a personal and professional understanding of the complexities and difficulties that families face and can support you in navigating your way through your rare disease journey. Some of the ways she supports families include:

•Home visits (whenever necessary)

Our support area of North Wales will be expanded for the time-being and if we can’t help you, we will put you in touch with our colleagues in disease specific support organisations. Katy Parry has a personal and professional understanding of the complexities and difficulties that families face and can support you in navigating your way through your rare disease journey. Some of the ways she supports families include:

•Supporting families to understand the choices of care that may be available

• Home visits (whenever necessary)

• Supporting families to understand the choices of care that may be available

•Helping families to access their local healthcare services

• Helping families to access their local healthcare services

•Liaising with local health and social care teams, which may include your Occupational Therapist, Speech and Language Therapist or Social Worker

• Liaising with local health and social care teams, which may include your Occupational Therapist, Speech and Language Therapist or Social Worker

•Working with schools and teaching staff to provide information to support children in attending and achieving at school

• Working with schools and teaching staff to provide information to support children in attending and achieving at school

For more information, please contact us on enquiries@samebutdifferentcic.org.uk or call 01352 757007

For more information, please contact us on enquiries@samebutdifferentcic.org.uk or call 01352 757007

•Accompanying individuals and families to clinic appointments or meetings.

• Accompanying individuals and families to clinic appointments or meetings.

A NEVER ENDING LOVE

www.ocumeluk.org

ACCESSIBLE TRAVEL

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www.hoteladriano.com

www.hotelmartis.com

www.nh-hotels.com

www.rinaldialquirinale.it

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ADAPTIVE SCHOOL CLOTHING

www.asda.com

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ARTS AND CULTURE

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ASSISTIVE TECHNOLOGY

www.acecentre.org.uk

COST OF LIVING

DON’T BE SCARED

www.cabourn.com

www.drmartens.com

www.engineeredgarments.com

www.panerai.com

www.passenger-clothing.com

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DRIVING CHANGE

www.akusociety.org

www.orchardocd.org

www.rarebeacon.org

HUMOUR IS OUR MEDICINE

www.afkcharity.org

www.atwalbricefamily.co.uk

www.caudwellchildren.com

RARE NAVIGATOR SERVICE

www.samebutdifferentcic.org.uk/ rare-navigator

THE BIRTH OF ISOLATION

THE INSPIRING STORY OF ZAYD

www.halliwick.org.uk

www.rarbmutation.org

THE MENTAL HEALTH OF PARENT CARERS

www.cdls.org.uk

www.cdlsworld.org

www.cerebra.org.uk

www.mykidlovesbroccoli.wordpress. com

WHAT MATTERS MOST

www.coastfashion.com

www.laurawisinger.com

WHAT WE’RE INTO – REVIEWS

www.simplyemma.co.uk

5 QUESTIONS WITH www.timeaway.org.uk

www.cdls.org.uk

www.cdlsworld.org

Supported

www.samebutdifferentcic.org.uk/raritylife

www.samebutdifferentcic.org.uk/ cost-of-living SUBSCRIBE

www.samebutdifferentcic.org.uk/raritylife

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