Rarity Life Issue 02 by Rarity Life

AR IT Y Living your best

SINK or SWIM TULLY KEARNEY MBE BEATING THE ODDS at LIFE AND PARALYMPICS A TRULY INCLUSIVE M AGA ZINE FOR THOSE AFFEC TED BY R ARE DISE ASE , DISABILIT Y OR C ANCER ISSUE 2 A Same but Different Publication

LIFE

EDITORS LETTER

ARITY

Living your best

LIFE

HELLO EVERYONE! We are delighted to introduce Issue 2 of Rarity Life. As the days get longer and sun brighter (we hope) we wanted to share our positively sunny edition with you, featuring so many inspiring people who have kindly shared their experiences with us. Our cover star is the incredible Paralympian Tully Kearney MBE who shares her experiences of not letting disability stop her achieving her dreams and highlighting the passions that get her through the tough times. Our photoshoot will hopefully get you ready to dive into the rest of the magazine’s content!

As a global magazine that includes arts, culture and fashion plus life stories and inspirational people doing remarkable work within their community, it is with pleasure that we highlight the work being done in South Africa to tackle the diagnostic odyssey for many. We also introduce guest writers who share their stories, skills and advice for others. We hope you enjoy Rarity Life and share it with your friends and family. Wherever you are reading this we hope we can bring a little bit of sunshine to your life.

Ceridwen Hughes

Same but Different

MEET THE TEAM

Ceridwen Hughes

Ilmarie Braun

Katy Parry

Andrew Pearson

Claire Li

Emily Todd

CONTENTS

This Issue Issue 2 | Summer 2022

ON THE COVER

Life... be in it with Tully Kearney MBE

LIVING WITH

20 28 52 62 66

Moving Targets with Caroline Phillips & Michelle Capel A farming dream with Scott Morris in SbD’s ‘We Can’ exhibit Letters to Bert with Claudia Brown Diagnosis matters by Becky Tilley 5 Questions with Martin Roberts

TEEN VOICE

Acceptance is a hot topic with Tayen Coppard

ACCESSIBLE TRAVEL

Mallorca holiday guide A guide to the Balearic island

STYLE

Winning... at Life with Tully Kearney MBE

CULTURE

16 26

The art of creativity by Annie Dewhurst Summer culture SbD’s review round up

EVENTS

Conference to pave the way ECRD 2022

Looking to the future with Professor Shahida Moosa

TECHNOLOGY

HEALTH

36 40 46

Rare disease diagnosis support guide Rare Navigator Principles to designing a sensory garden with Matt Hughes The architecture of health with Dame Laura Lee MBE, Maggie’s centres

www.samebutdifferentcic.org.uk

Tully wears a retro petal swim cap and a range of swimwear Swim Cap, Medifier £14.74 www.amazon.co.uk Blue Swim Suit, Arainlo £28 www.amazon.co.uk Red Swim Suit, Esther Williams £76 www.bettylicious.co.uk Bikini Set, Viloree £30 www.amazon.co.uk

Winning...

AT LIFE I really want to show people that even with a progressive condition there are still things that are possible. It just might just look a bit different to what you were expecting.” TULLY KEARNEY MBE

STYLE

www.samebutdifferentcic.org.uk

STYLE

Swimming really helped me clear my mind and get over all the anger and frustration I had with my disability. In the water I didn’t feel disabled, I felt like anyone else.”

Swim Cap, Medifier £14.74 www.amazon.co.uk Red Swim Suit, Esther Williams £76 www.bettylicious.co.uk

www.samebutdifferentcic.org.uk

Swim Cap, Medifier £14.74 www.amazon.co.uk Blue Swim Suit, Arainlo £28 www.amazon.co.uk

STYLE

www.samebutdifferentcic.org.uk

MY LIFE <T ully was photographed by Ceridwen Hughes for Rarity Life

Life... BE IN IT I wanted to be able to do everything my brother could do, but I couldn’t physically do it. When I started swimming I just absolutely fell in love with it. I realised that in the water I wasn’t at a disadvantage, and it was much easier for me to move. I was treated like any other child, I wasn’t treated as the ‘disabled kid.’ I wasn’t singled out. I could keep up with children my own age. It helped me clear my mind and get over all the anger and frustration I had with my disability. I didn’t feel disabled. I felt like anyone else.” TULLY KEARNEY MBE

Tully Kearney is an athlete, a naturally gifted and hardworking swimmer who has not only won many medals in her time but has also managed to smash world records in the process. As well as her punishing training schedule she’s also studying for her Masters of Science in human physiology at Manchester Metropolitan University. In the 2022 New Year Honours, she was appointed a Member of the Order of the British Empire (MBE) for services to swimming. Add to the list that she is also a patron for Dystonia UK and an ambassador for Cerebral Palsy Sport and one thing becomes abundantly clear, she is a force to be reckoned with. Moreover, she has achieved all of this despite many incredibly difficult setbacks over the years, setbacks which she has repeatedly managed to overcome despite the odds.

Her family were living in Northern Ireland when she was conceived and so her parent’s chose a name to honour this, Tully means ‘peaceful one’ in Gaelic. After she was born her mum knew there was something not quite right with her, that she wasn’t like her older brother had been; “Mum knew straight away from the minute I was born that there was something wrong but she didn’t know what it was. I couldn’t open my left eye for the first few weeks of my life and didn’t move my legs or use my left hand. Every time she brought it up to the health care professionals, they would just say I was a lazy baby and I just had to learn. I wasn’t actually diagnosed until I was about three or four. It was difficult because every place we moved to the different doctors all had a different opinion on what was wrong.”

MY LIFE Tully’s parents persevered, and eventually the family were given a diagnosis of spastic diplegia, which is a form of cerebral palsy. Cerebral palsy (CP) is an umbrella term for a group of neurological disorders or conditions which affects muscle control, movement and tone. It is caused by abnormal development or damage in one or more parts of the brain that control muscle tone and motor activity (movement), and because the areas of damage to the brain will vary in each individual, every single person presents differently. It is possible to have more than one type of cerebral palsy. Tully’s earliest memories of being in the water are not fond ones, she remembers that she hated her hydrotherapy sessions, and would refuse to engage with the process. Swimming lessons were more of the same, indeed Tully explained that; “I would refuse to move and the teacher would have to come and drag me along. Because I just didn’t want to do it. I didn’t want to be involved.”

It was only when her Dad was posted to Canada and they had regular access to a pool that she saw that playing family ball games in the pool could be fun. Her Mum had been a national champion swimmer in her time, and although she was adamant that her children learnt to swim to keep them as safe as possible near water and she had no desire for her children to become competitive swimmers, knowing the dedication such a commitment takes. In addition, she was a very protective parent and was cautious about letting Tully do anything that might hurt her, at times treating her differently than her older brother. At eight years old she was therefore keenly aware that she had more limitations than him, and all she really wanted was to be able to do everything that he could do. One day her brother’s swimming coach approached her and her Mum and asked if she wanted to join in, perhaps usurpingly no one could have imagined just how pivotal that moment would turn out to be. In swimming, she had found her place in the world, and is rightly proud that time and time again she has been able to prove that swimming is where her natural talent, and her true passions lie. She decided to try to take up swimming competitively after being inspired when Ellie Simmonds displayed her Paralympic medals at a school assembly. It is a brilliant reflection of both her innate abilities in the water and also her determination and ability to work hard that Tully was indeed selected to represent Great Britain for the first time in 2011 in international competitions when she was just fourteen years old.

< T ully photographed by Ceridwen Hughes for Rarity Life

www.samebutdifferentcic.org.uk

In her teens she started to show signs of developing dystonia, a progressive neurological movement disorder, and eventually received an additional diagnosis of generalised dystonia. But once again the path to getting a diagnosis was far from smooth and took over two years, a battery of tests and two specialist neurologists. Tully feels that this is in large part because

If you’ve already got a disability, they (doctors) will assume that you can’t have another one, that you are already disabled. Symptoms can be very similar...” “My progression wasn’t normal and no one could explain it. When I was 14, I saw this neurologist that I’d been under for many years, and he thought I had so-called dopa responsive dystonia which could be cured with a dopamine supplement. Unfortunately, I don’t have the dopa responsive dystonia and it didn’t work. I was told it was all in my head and I was exaggerating. He discharged me from the neurology service, and I was just stuck.” Eventually, by being transferred to adult services she was able to see a specialist. It was then she found out the diagnosis of generalized dystonia;

With Dystonia there is a link between the conditions. A lot of people with CP have it. There is also a link to trauma, brain injury and dystonia. I know people that have had a brain injury and have gone on to develop dystonia.

Similarly to cerebral palsy, dystonia can have different types. The four main types are generalised dystonia which affects most or all of the body, focal dystonia which affects one part of the body, multifocal dystonia which affects two or more unrelated parts of the body and segmental dystonia that affects two or more adjacent parts of the body. “I have generalized, it affects my whole body.” Tully explains, “I also have elements of fixed dystonia. I have some muscle contractures, which restrict my range of movement.” In the world of competitive swimming, swimmers with a disability are separated into three disability classes; physical disability, vision impairment and intellectual disability. Each athlete is then further classified, and swimmers with physical disabilities are ranked from 1 and 10, with 1 being the most impaired and 10 the least. These classifications are governed by the International Paralympic Committee, and when she first began competing Tully was given a S10, SB9, SM10 ranking. Over the course of her swimming career her highs have been offset by some truly difficult lows, with her many medals and awards often followed by periods of rest and rehabilitation following injuries, or the progression of her dystonia. Tully went on to be selected to swim at the Paralympic Games in Rio in 2016, however, she was dealt a truly devastating blow when an unexpected and rapid progression in her dystonia, meant that she had to withdraw from the games, just two weeks before she was due to fly out. Tully was told she would never swim again.

MY LIFE Despite immense difficulties she did not give up. Instead, she relied on her inner strength to pull her though, to get her to a point where she could slowly rebuild her body and her strength. Even though it must have been incredibly hard she learnt how to swim again, and discovered what her body could still do in the water. Due to the nature of her progressive disability Tully now competes in the S5, SB4, SM5 classification. True to her motto “life… be in it” she showed the world just what she is made of when she not only won Gold and Silver at the Tokyo 2020 Paralympic Games, but also set new world records in both the 50m and 100m freestyle in the process. For Tully swimming was a central way to look after her emotional and mental health. In the dark periods where it looked as though she might never swim again she remembers thinking “what am I supposed to do with myself? For me, for my mental health I have to do something.” The outlet Tully found was always going to be some sort of sport, and so her introduction to the world of frame running began. Frame Running (formerly known as RaceRunning) is an adapted sport for those who cannot functionally run and rely on sports aids for mobility and balance. The actual frame runner is a three wheeled frame where the athlete is supported and propels against the frame using their feet, and steers using the mobility within their hands and/or arms. Whilst frame running was, and is not always easy on Tully’s body, it fulfilled her need to move, and helped keep her positive;

I’m not very good at not training, at not doing anything. I’m a bit of an adrenaline junkie. I love the adrenaline rush you get from pushing yourself. For me, exercise is how I get that.”

It is Tully’s positivity, her inner strength and her sheer determination that are truly a gift. Whilst most of us might know deep down what we should do, as and when life becomes hard for us, all too often we don’t do it. As Tully herself said;

If I just sit in bed and feel sorry for myself and don’t do anything, because I’m in pain, then what am I going to achieve in life? I’m literally not going to do anything. There’s a whole world out there.”

FIND OUT MORE •

Visit the Dystonia UK site to for more information.

•

Visit the Cerebral Palsy Sport site to get involved.

TAKE A LISTEN •

Listen to the full interview with Tully in the Rarity Life podcast series here

THANK YOU TO •

Chester University Pool Parkgate Road, Chester. CH1 4BJ 01244 513452

www.samebutdifferentcic.org.uk

< Illustrat Rarity L Annie D

CREATIVE LIVES

tion for Life by Dewhurst

THE ART OF CREATIVITY BY ANNIE DEWHUST

^ Annie Dewhurst

John Bentley at Bentley Portraits, Bolton

I’ve always felt that doing something creative can be incredibly cathartic, regardless of the end product. As a mum to a child with a rare genetic condition ‘me’ time, time alone to do something ‘arty’ or potter about, is very much treasured. However, as many in the rare community will attest, life can be unpredictable and plans may have to be abandoned when things go awry. My daughter, Hannah, has a very rare genetic condition called Cornelia de Lange Syndrome (or CdLS for short). Hannah received her diagnosis as a baby, quite a number of anomalies were identified early on including a cleft palate, a heart condition and skeletal differences. Life was busy! But when it eventually settled down a little, I began blogging about our life. The main purpose being to reach out to others just starting out on their own CdLS journey, as when Hannah was first diagnosed, there were various research papers on the internet, but no information that I could find which actually talked about life with the condition. The blog then expanded onto social media (Facebook predominantly) and in a wild moment (what WAS I thinking? What was I drinking?) I announced that I would write a book about our life. Again, in the hope that it would help others just starting out on their own journeys and to raise some much needed general awareness. Fitting this in would be a challenge, especially as I’m not a fan of writing in the evenings…and weekends/school holidays etc would be out too. The book still isn’t finished, despite writing 83k words; much (too much) procrastination, illnesses, other responsibilities and one mojo lost, has scuppered completion. But it will get done, eventually. And, of course, none of us could’ve ever anticipated what 2020 brought us all.

www.samebutdifferentcic.org.uk

What is CdLS ? CdLS affects between 1 in 10,000 to 30,000 live births and is present at birth. There is no ‘cure’ and it can affect many parts of the body. 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. Hannah also has a formal diagnosis of autism. You can find out more about CdLS at www.cdls.org.uk.

Everything went on hold. So it was pens down (laptop, actually) and all hands on deck to focus on keeping my child safe and happy 24/7. What spare time was afforded me, just to keep me ever so slightly sane, I veered away from the words and got a tad carried away doodling on Hannah’s ipad, with the intention of eventually adding some to the book. However, I did so many, I ended up with a book of doodles, and ‘The (little) Book of Broccoli’ was born. Fabulous feedback received suggested the book resonates not just with parents of children with CdLS, but also others on their own different journey. In addition, I have been contacted by professionals working with children with disabilities and their families who have found the book insightful. It’s made a difference. So I couldn’t ask for more.

< Illustrations for Rarity Life by Annie Dewhurst The doodles are basic (I’d never get a job in sales, would I?) and, not being particularly tech savvy, it took me a while to learn how to ‘draw’ on an ipad, however, the book shares some of our journey and personal experiences - some light-hearted, some good, some not so - of living with and loving an extra-ordinary, broccoli loving child, who happens to have CdLS. As with many things, with practice, we can improve. And I’d like to think that my doodles have improved somewhat since I started out. Having that little time here and there to be creative gives me great pleasure, it’s also a way of venting, and pairing it up with spreading more rare disease awareness, feels like a bonus. Whilst I eagerly await my mojo returning *puts hands together in prayer* and continue to procrastinate about The Big Book of Broccoli and/or deal with whatever life chooses to throw my way, I’m working on some more doodles for another book. I’ll leave you with a quote from Kurt Vonnegut that I stumbled across recently and which I think is apt;

To practise any art, no matter how well or badly, is a way to make your soul grow. So do it!” I hope you, dear reader, have something in your life, for yourself, that makes your soul grow too. Written by Annie Dewhurst. To read more by Annie we’ve included the details of two books below: •

The (little) Book of Broccoli by Annie Dewhurst

•

Cornelia de Lange Syndrome – A Shared Journey by the CdLS Community and Annie Dewhurst

www.samebutdifferentcic.org.uk

LIVING WITH < Michelle Capel photographed by Ceridwen Hughes for Same but Different’s Days of Rare project

MOVING TARGETS LEARNING TO LIVE WITH A RARE, COMPLEX & LIFELONG CONDITION Behçet’s disease, also known as Behçet’s syndrome, is a rare disorder that has a spectrum of symptoms for each person, and whilst there are similarities there are also huge contrasts in the way it affects people. Michelle and Caroline are both affected, and yet their experiences of living with Behçet’s disease are very different, from diagnosis and support through to symptoms and treatment. Michelle was diagnosed with Behçet’s in May 2005. At that time she was enjoying her life as a newlywed, as a mum to her young son and she was very active, fit and worked full time. In short, life was great. But unexpectedly she seemed to become chronically ill almost overnight;

I went downhill very quickly, but in hindsight, I had symptoms much earlier. I’d always suffered from ulcers, up to thirty ulcers at any one time, but after I had my son my joints started swelling and I was getting headaches. I couldn’t walk. I was in a lot of pain and it just seemed to come on overnight. I lost so much weight, three stones in six weeks. I was so unwell. Lesions appeared on my face and they were very unsightly and sore, I just looked awful. I went from being super healthy to really ill.” MICHELLE CAPEL

www.samebutdifferentcic.org.uk

Caroline’s diagnosis came to light after an issue with her eye. Despite not initially being overly concerned she eventually attended the eye A&E Department in her local hospital; “I had a blur across the centre of my vision, it was similar to when you have a smear on your sunglasses, and it was over the centre part of my vision. I do quite a lot of outdoor swimming in the summer so I thought that maybe I had an infection in my eye, possibly picked up from the water. It just progressively got worse and it got to the point where I wasn’t able to safely drive. The consultant on shift that night luckily had recently completed a PhD in Behçet’s and its effect on the eyes. He described how Behçet’s causes a swelling in the back of the eye, which can then impinge on the various blood vessels and nerves which was happening with me. He referred me straight away to a specialist Behçet’s centre.”

^C aroline Phillips photographed by Ceridwen Hughes for Same but Different’s Days of Rare project

It just progressively got worse and worse and it did get to the point where I wasn’t able to safely drive. A huge part of my job is that I need to be able to drive.” CAROLINE PHILLIPS

LIVING WITH

There’s no definitive way to deal with a lifechanging diagnosis and they both struggled in their own way. For Caroline, there was a period of denial. Behçet’s disease was unknown to her and the idea of taking immunosuppressant medication for the rest of her life represented a huge lifestyle change, and one that she found very difficult having always taken care of her health and fitness and avoided medication wherever possible. Michelle also struggled, like Caroline she had always had an active life, and it felt like the bottom had fallen out of her world and she was unable to continue her life as she knew it. After she returned home from her appointment and diagnosis she did what many of us would do and turned straight to the internet. She was absolutely terrified by what she had read and started having regular panic attacks. Her life was irrevocably changed by her diagnosis, showing how devastating and debilitating Behçet’s can be for some:

One day the penny dropped. I had to stop worrying over things that might not happen. The shock of my diagnosis and how my life had changed dramatically had really hit me hard.” MICHELLE CAPEL

“Living with Behçet’s affects every part of my life, even sleeping because I can be in so much pain and can’t move. Planning anything is difficult for me as I just don’t know how I am going to be on that day. I have had to learn to live in constant pain. There are days I can’t walk or do self-care. My husband has to help me out of bed. He helps me get dressed. He showers me. I have lost my independence.” Michelle’s mental health suffered and she found cognitive behaviour therapy (CBT) helped her in the early days of her diagnosis; “I couldn’t sleep at night. I was so worried that I would go blind or have a stroke. All the worst-case scenarios played out in my head. I cried myself to sleep every night for a year before my GP convinced me to try CBT. It was the first of many counselling sessions I participated in over the years. Then one day the penny dropped. I had to stop worrying over things that might not happen. The shock of my diagnosis and how my life had changed dramatically had really hit me hard.”

www.samebutdifferentcic.org.uk

In comparison Caroline’s life has changed little since her diagnosis, she is still working as a paramedic which she loves. Crucially she is still able to live her life fully, staying active and fit. However, she is still aware of the danger it poses, especially on her joints and of course her eyesight. A sudden flare-up of the symptoms she experiences with her vision needs to be treated with the same urgency as a heart attack if her vision is to remain unaffected. Overall, she feels very lucky to be able to do so much and has cultivated a good outlook on life with Behçet’s “Compared to some people with Behçet’s, I think I’m very fortunate my symptoms are quite minimal even though the problems that I do have could be quite serious. I can still work full time.” Caroline chooses to focus on what she can control rather than what she can’t. Her positive mental attitude is helping improve her mindset in dealing with her condition; “I managed to distort my pelvis and I couldn’t walk properly for several months. When you do something like that, and it impacts your ability to move well, you realise how precious your body and health are. I couldn’t walk comfortably for several months. I went to the swimming pool a lot as I was fortunate that I could still do that, even though I couldn’t swim too well because it was painful. I would just use my arms, then when my arms were tired, I just practised holding my breath underwater to see if I could improve my lungs.” DAYS OF RARE •

You can take a look at more Days of Rare stories on the Same but Different site and also listen to the Michelle and Caroline’s podcast episodes.

The flare-ups for Behçet’s disease can happen at any time and there is often no pre-warning. During Caroline’s flare-ups she needs to take high dose oral steroids as soon as possible to control the inflammation. The steroids are usually taken for approximately three months at a time and they come with side effects that can be debilitating, even worse at times than the flare-ups:

The side effects of the steroids are huge, they affect my ability to concentrate. I can’t sleep, I only have about two or three hours of sleep a night. I am incredibly tense and anxious. They are worse than my Behçet’s symptoms but not as serious.” CAROLINE PHILLIPS

Both Caroline and Michelle are well supported by their families, Michelle finds additional comfort and support through belonging to Behçet’s support groups, finding their help and the friendships that she has created through them to be invaluable to her wellbeing. For now Caroline has not needed the same level of support. Instead she uses her medical background to try remain as informed as she can be “I guess the thing that I would want to emphasise and what works for me, is having knowledge and having control over what we can. I think making sure that we’re educating ourselves using the correct resources, like the NICE guidelines (National Institute of clinical healthcare excellence) using the freely available resources, and that our healthcare professionals are supporting us and our treatment. Empower yourself with the knowledge that’s from sensible places, not Facebook, not Google, not Wikipedia, but actual robust resources.”

While in many ways Caroline and Michelle are living very different lives with the same condition they have both inspired us with their outlook on life, and how they have adapted to life with a rare condition. Even during the darkest times they have worked hard to remain positive and overcome the obstacles they have been presented with. Like many with a rare condition or chronic illness, life doesn’t stop, it’s ever-changing and moving forward. Michelle now looks at life differently and wishes there was more understanding and awareness out there about the hidden realities of rare conditions like Behçet’s as so many people are still left to struggle daily, without answers or understanding. Looking back now…

The most important lesson I have learned is never to take good health for granted. To appreciate the little things that life has to offer. There have been some dark times and it can wear you down. But at the moment I’m feeling quite strong mentally, and although my health is poor, I am lucky to have such a loving, caring husband and a wonderful son. I couldn’t cope without them. This is what keeps me going every day.”

In the UK, there are three Behçet’s Centres of Excellence, based in Liverpool, Birmingham and London. Each centre offers a full range of support from multidisciplinary services including support both from medical and non-medical staff, medicines, and access to consultants from varied specialities. They both speak highly of the support from each centre and the optimal care they have both been provided. Michelle’s consultant has been a lifeline for her, even offering to help her GP with whatever support they needed to help provide care and treatments; “Professor Moots gave me some leaflets and his business card and he said to me that the GP is going to struggle to treat me because it was something like 1 in 100,000 people then who got diagnosed. He suggested that I tell the GP that if he wasn’t sure how to treat me, give him a call and he would help.”

MICHELLE CAPEL

FIND OUT MORE •

Visit Behçet’s UK for more information and support

www.samebutdifferentcic.org.uk

What we’re INTO Same but Different’s reviews from the worlds of health and culture across the arts, exhibitions and tech.

SHINE A LIGHT ON XLH EXHIBITION The Shine a Light on XLH campaign uses an exciting mix of digital photography and conceptual makeup design to convey the stories of people living with XLH and call for better awareness of the disease among the general public, healthcare professionals and policymakers. The exhibition was organised and funded by Kyowa Kirin. Launched on the International Day of Light on 16th May, you can visit the virtual exhibition here. ^ XLH virtual exhibition by by Kyowa Kirin HEADSPACE APP FOR IPHONE & ANDROID It was a recommendation from a friend that led me to Headspace, and I am so glad I downloaded it and gave the app a try. There is a free trial of the app for 14 days. I was glad of this as I wasn’t sure if I was going to remember to make time to use it, but I’ve found that tuning into the app has become the part of the day I often enjoy most. When it comes to picking up my phone, choosing self care over scrolling social media definitely feels like a better choice. Life can get overwhelming sometimes. I’ve found headspace offers me a chance to take a step back, away from any clutter in your mind to find a calmer mental space and reset. Headspace’s guided exercises help train your mind, the app offers courses to build up on what you’ve learned each time you make the space in your day. There are so many meditation guides to choose across different topics, from connecting with nature to reframing stress and even processing grief. Explore the app, there’s bound to be a guide that could help your mind and see if it works for you. ^ Daniel Korpait, Unsplash

Reviewed by Emily Todd

CULTURE

Fun at the FESTIVAL Our pick of some of this summer’s most anticipated events you won’t want to miss.

FOR ALL THE FAMILY

ALL ABOUT THE MUSIC

JUST SO RHODE HALL, CHESHIRE Festival going families are encouraged to bring along their ideas and talents and immerse themselves the programme of live music, theatre, circus and creative activities. Just So’s organisers are working closely with accessibility advisors ‘Attitude is Everything’ and have full details of accessible parking, camping facilities and information about applications for free personal assistant tickets on their website. The festival takes place from 19 -21st August.

BRITISH SUMMER TIME HYDE PARK, LONDON If camping isn’t for you, British Summer Time festival hosts one day festival events that feature the best global music stars live at Hyde Park. This year’s performers include Adele and the Rolling Stones. With an accessible viewing platform for the mainstage and an ‘Access customer service hub’ on site, the festival takes place between the 24 June – 10th July.

GARDEN PERFORMANCES OUTDOOR THEATRE SPEKE HALL, LIVERPOOL Take along a picnic to the stunning gardens at Speke Hall, a National Trust property in Liverpool. This summer there is an outdoor programme of performances including Shakespeare’s Twelfth Night as well as a performance of The Gunpowder plot by comedy actors ‘The Three Inch Fools’. Full details here, one evening a month June - August.

SOUND & SCIENCE BLUE DOT JODRELL BANK OBSERVATORY, CHESHIRE Combining the worlds of music and science, and performed in front of the backdrop of the Lovell Telescope you can experience some of the world’s most exclusive headliners from Bjork to Groove Armada during the festival. This year sees the return of ‘Dot Talks’ from a selection of leading scholars, the ‘Outer Space’ experience of light sculptures and otherworldly art as well as, ‘Space Camp’ with a programme of intergalactic family fun.The three day weekender has a selection of ticket options available, an accessible camping site and facilities. Full information can be found on their website. 21st - 24th July.

www.samebutdifferentcic.org.uk

MY DREAM

is to become a

FA R M E R” SCOTT MORRIS

When we met Scott Morris we were impressed by his quiet determination, his will to succeed and positive approach to tackling new challenges. As a student with learning disabilities, Scott set out to work hard to achieve his dream of being a farmer. We caught up with Scott whilst studying animal care and conservation at Coleg Cambria (North Wales).

^ Scott was photographed by Ceridwen Hughes for Same but Different’s We Can exhibition

MY LIFE

THIS HAS BEEN MY DREAM SINCE THE AGE OF 10 & so if I don’t achieve it I will be really sad. I CAN’T DO IT ALONE. I will need a bit of help to get started but EVERYONE NEEDS HELP IN THE START.” SCOTT MORRIS

Scott told us he preferred his college course to school because he feels “so much more independent”. Scott explained “It was quite tricky at school. I had to leave the class to do catch up but when I went back, I was performing a bit worse than when I was doing catch up. I realised that maybe if I just tried a bit harder then I would do better and that is what I did. Even someone who is missing a leg they still get around. It is amazing what people can do if they actually try. If you don’t try how can you expect to get anywhere in life. It is about how much effort you put in.” The college course proved enjoyable for Scott, he told us “I really like the animal care because I have a lot of animals myself and so it helps me learn how to take care of them better.” Respect for animals is something Scott is passionate about, and he realised that, “Animals can do with more respect, when you think about the amount of products we get from them. They have been in our world for a long time, longer than us. Looking after animals and grooming them is therapeutic.”

Scott enthusiastically told us that his aim was to become a farmer after completing his course at Coleg Cambria “My goal is to become a farmer and to look after as many different types of animals as I can. I would also like to get some of the more exotic animals like spiders to try and boost their popularity. I have two pet tarantulas and they are really not that bad to look after. They are more scared in you than you are of them so if you respect them then they respect you. It is the same with people as it is 50/50 trust either way. Sometimes people make remarks that I can’t do things, and this makes you feel like you can’t do it but then I look back and realise that I can do things. I may learn a bit slower but I can still do what you can do.”

FIND OUT MORE: • •

Visit the We Can online exhibition Learn more about Coleg Cambria

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Photograph by Annie Spratt, Unsplash

Looking to the

FUTURE Africa is one of the most genetically diverse continents, and the African human genome is the oldest, yet fewer than 3% of analysed genomes come from the region. This low level of analysis brings many problems, not least the fact that not all research that has focused on the Caucasian population will have the same validity for this region. However, it does also provide opportunities, as Professor Shahida Moosa, Specialist Consultant in Medical Genetics (Tygerberg Hospital) and Associate Professor of Medical Genetics (Stellenbosch University) explained: “To date, priority has focussed on diseases such as tuberculosis, HIV and infectious diseases. It has meant that historically there has been very little buy-in from the government and other stakeholders to develop the genetic diagnostic and research capabilities, especially with regards to rare diseases, it is hoped that this is slowly changing.”

TECHNOLOGY

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“Currently, South Africa has nine provinces and there are only genetic services in two of those. These centres are the only locations that are carrying out diagnostics and research, yet there is a population of approximately 59 million in South Africa. It is estimated that within the population, there are possibly 4 million people with rare diseases in the community that need help, both in terms of diagnostics and research. This demand is putting huge strains on small teams who also have to cope with an already overloaded clinical workload.” All humans descended from our shared ancestors who lived in Africa over 150,000 years ago. Each person carried part of the ancestral genetic variation, and through migration the genetic variants seen outside of Africa tend to be subsets of the genetic variants found in Africa. Over time as we reproduce the ancestral chromosomes get broken up and shuffled through recombination events over each generation. However, some segments of DNA are not fragmented and are shared between multiple individuals. These segments are called haplotypes and can be used to look for genes associated with a specific disease. The fact that genetically people descend from Africa means that many people share a disease haplotype no matter where they live now. On the whole European populations are genetically similar and the higher levels of analysis have meant there is a much larger data set. However, the African population is much more diverse and therefore the data from Europe is unlikely to cover genetic variants found in African populations. It is this demand for greater understanding that drives Professor Moosa; “I grew up and trained in Johannesburg and after becoming a doctor I became a clinical geneticist, the first person to do the primary speciality in medical genetics. I realized that whilst clinically I was confident, I needed more experience on the research side because we just did not have the resources. I went to Germany and obtained my PhD and this was followed by a postdoctoral at Boston Children’s Hospital in the United States. The opportunity then arose at Tygerberg Hospital and I realised I could make a positive difference here.”

“The university has supported me in setting up a lab where we can do rare disease genomics and I’ve also established our first undiagnosed disease program at Tygerberg Hospital, which started at the beginning of last year. This is the first UDP in Sub-Saharan Africa. Doing clinical genetics in African patients is a challenge to us because many of the big studies that have looked at normal variation across populations didn’t consider Africa. This means that when we find something, we don’t know how to interpret it. There’s nothing that can help us.”

We have already enrolled 300 families and begun or conducted exome sequencing on 250 of them. Even in this short time, we have been able to diagnose half of them which is incredible. Getting a diagnosis is life-changing for many.”

PROFESSOR SHAHIDA MOOSA, SPECIALIST CONSULTANT IN MEDICAL GENETICS

TECHNOLOGY

It is incredible to see the difference it makes to someone’s life.” PROFESSOR MOOSA

Photograph by Tebogo Masilela,Unsplash

There are many issues associated with having a disability and rare disease and to be able to give them a name for their condition empowers people to share the information in their communities. Historically there has been a stigma to being different and some felt it was their fault their children had a rare disease. Even today there are superstitions associated with disease; “To receive a diagnosis and to be able to say ‘my child has X Syndrome, this is genetic. It is not something that I ate during pregnancy, it’s not something that somebody did to me. It is in the building blocks of our bodies.’ One of my patients has been waiting 7 years for a diagnosis. We have been able to identify their condition and through this, they have secured a house in a new development specifically for people with special needs. Without a diagnosis, they could not have accessed it. It is incredible to see the difference it makes to someone’s life.” “Covid has brought some positives because we have had sequencing machines donated. I am working with other partners across the world to be able to set that up as a test for us, not only for South African patients but to serve the rest of Africa as a hub to do genomics, in Africa for African patients. I am really excited and a little daunted by the amount of work that’s coming our way. I do believe that it is exactly why I was put here at this time, in this space.” Recognising that the impact of a rare disease diagnosis is not solely constrained to the medical world but that it also has a huge impact on social interaction, education and employment is so valuable. On Rare Disease Day this year Professor Moosa and her team set out to ask the question ‘What is it like getting a diagnosis? What does this mean for you, what has or has not changed?’ This information is so important in reflecting the wider implications of diagnosis and highlighting the importance of research.

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When I give a diagnosis, I always emphasize that this is not the end of their journey. In many ways it is the start.” PROFESSOR MOOSA “By understanding the true impact of a diagnosis on people such as parents, caregivers and people inside in the community, it allows us to recognize where they need support, what has worked, what hasn’t worked, what are the challenges that they face, and how we can help to overcome those challenges.”

It is one thing to be increasing the testing capability but if there is not sufficient understanding about how to interpret that data then errors will occur. Professor Moosa is passionate about improving understanding, not just amongst clinicians but also among medical students. “Previously the amount of genetics taught was limited and so we have gone right back to the beginning of their medical school training and reviewed what is being taught. We are not training them to be doctors in 2022, we’re training them to be doctors in the future. We start with the basics, and we follow the golden thread through the second year, the third year and on to the clinical years. They come and visit my paediatric clinic and see what genetics is like in action. It is important that our training reflects their need for when they are working in 10 or 20 years into their practices.”

TECHNOLOGY < Photograph by Annie Sprat, Unsplash

Education should not just stop after graduating and Professor Moosa is passionate about sharing her knowledge with colleagues wherever possible. For example, she regularly visits the cleft clinic to interact with her surgical colleagues and speech therapists. It allows her to share information and this in turn is having positive results as there is a greater understanding of which cases would benefit from a referral for genetic testing. The ability to empower her colleagues is important, and this includes the midwives and nurses who work out in the rural communities, and who are often familiar with many generations within their communities. By recognising patterns they can highlight patients who might be affected by a rare disease. As well as sharing information and upskilling colleagues it is also vital to empower families and caregivers. They are the ones who will have to be present at each clinic and advocate on behalf of themselves or their relatives. “In the clinics, we often see grandmothers, who are the stars in our population. The parents may be busy with work or other children and so the grandmother will often take on the responsibility. They are the ones fighting day in and day out for their grandchildren but there has been very little support available for them. By giving the grandmothers more knowledge, they can start those conversations in their community, that were once perhaps stigmatizing families. In one clinic there is a grandmother who used lockdown to create Tiktok videos about her grandchild’s condition. She is changing perceptions and it is wonderful to see. We need to support these people so they too are taken care of and their mental health does not suffer. One of our initiatives is to create the opportunity for more peer to peer support and it will provide so many supportive relationships.”

I really am the lucky one because I get to meet all of them and they get to meet me as me. Each of them gets to touch my life. And that’s just amazing for me.” PROFESSOR MOOSA

Speaking about her dreams and hopes for the future Professor Moosa says; “I would love first of all, for every person with a suspected rare disease to get a diagnosis as soon as possible. That includes us getting things done in the newborn period. Once they have a diagnosis it is important that there is buy-in from everybody, whether it’s in the hospital, in the school, in the community, or in our social welfare. We need to ensure the infrastructure is in place to support people and their caregivers throughout their journey. There’s a lot to do. But you know everything starts with the small steps. No matter whether you’re born in Cape Town or born in Kinshasa, you should have the same opportunities as others.”

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WAYS TO SUPPORT SOMEONE WHO HAS RECEIVED A RARE DISEASE DIAGNOSIS When someone you care about first receives a rare diagnosis, be it for themselves or for someone they love, it can be life changing in many different ways. It can be hard to know how to best support someone through such a difficult time, especially if it’s something you’ve not previously experienced. But in truth it is relatively simple; be there for them. Be their friend. Don’t disappear.

DON’T PROBLEM SOLVE.

DO LISTEN.

Often we just want to make things better, so we try to offer advice, solutions and reassuring comparisons, don’t. There is a time for that, but for now…

...Really listen. Ask them questions like ‘How does it make you feel’, or ‘what is causing you the most worry right now’ so that they can continue to talk.

DON’T PLACATE.

DO REFLECT AND MIRROR.

It’s hard sometimes to hear someone you care about tell you how they’re feeling, especially if they are in a dark place. But don’t try to cheer them up, or point out all the good things that are still there. Instead…

...If they tell you they feel that things are hard, it’s OK to say that things do seem overwhelming, and hard, and their feelings are valid. It’s OK for them to be scared, or angry, or sad.

DON’T FORGET WHO THEY ARE.

DO REMEMBER WHO THEY ARE,

Remember why you’re in their life, and what you love about them. If they have a wicked sense of humour make a joke. Or buy them a beer. Just…

...And why they’ve chosen to tell you their news. Think about who and how you are together. Be natural, be relaxed if possible. They obviously wanted you there with them, so be you and let them be them.

DON’T MAKE HOLLOW OFFERS.

DO HELP.

Life gets in the way, and we can all get too busy. But try not to say you’ll call but then not call. And don’t just tell them that they can call you anytime, just call or text them. Don’t ask if you can do anything to help…

...Just keep helping. Be proactive, a text, a call, a card, a dinner dropped by for the freezer without being asked. Again, you know them, and what they’d appreciate, so do that. And not just once.

DON’T STOP.

SHOW UP.

It’s well known that people often feel overwhelmed with support at first in any sort of ‘crisis’, but then the support tends to tail off. The practical and emotional impact of a diagnosis and adapting to them can take time. Try to keep walking alongside them…

...Keep listening. Keep supporting. If they need practical help and you can offer it do. But don’t try to fix things. This is their journey, and by walking beside them you’ll be helping more then you might ever know.

RARE NAVIGATOR

his quote from Albert Camus, French T philosopher, author, and journalist is beautiful, and perfectly captures what it means to hold space for someone.

Don’t walk in front of me… I may not follow, Don’t walk behind me… I may not lead Walk beside me… just be my friend.”

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 as well as information to individuals, their families and all involved in their care, from the point of diagnosis and beyond. FIND OUT MORE, VIST: www.samebutdifferentcic.org.uk/rare-navigator

To get in touch, contact: enquiries@samebutdifferentcic.org.uk

www.samebutdifferentcic.org.uk

Conference to pave the way for the next decade of rare diseases Only Europe can make the invisible, visible, and finally serve all of its citizens’ needs.” AMANDA, BELGIUM (#30MILLIONREASONS CAMPAIGN)

While great progress has been made thanks to scientific advances and efforts at the EU and national levels, the last rare disease strategy and the only one so far was over a decade ago. Since then, technology, science and indeed legislation have progressed, but many people living with a rare disease are still facing unmet needs and inequities in accessing a diagnosis, treatments and care, leaving them marginalised in society. A coordinated strategy is the only way to ensure that actions are considered and coordinated in a comprehensive manner to reach meaningful goals for patients, families and for society at large.

Imagery courtesy of ECRD EURORDIS

This will be the focus of the largest patient-led European Conference on Rare Diseases and Orphan Products (ECRD) 2022, an official event of the 2022 French Presidency of the Council of the EU. This 11th edition follows a pivotal two-year Rare 2030 Foresight Study, supported by the European Parliament and European Commission, that guided a large-scale and multi-stakeholder reflection on rare disease policy in Europe through 2030.

The EU has the science, the healthcare and the industry to help patients suffering from rare diseases. Political will and incentives can turn science into treatments.” BORIS, FRANCE (#30MILLIONREASONS CAMPAIGN)

EURORDIS ECRD The ECRD 2022 programme mirrors current political opportunities and policy milestones and also presents an opportunity to hear from the European and international institutions, key opinion leaders working in the field and persons living with a rare disease to shape the best possible future framework of policies. This framework would provide an opportunity to set three ambitious goals and a number of sub-targets to tackle Europe’s challenges, including: • Ensuring healthy lives and promoting well-being for all people living with a rare disease at all ages; • Reducing inequality within and among countries by focusing on equity for people living with a rare disease; • Building resilient infrastructure, promoting inclusive and sustainable industry and fostering innovation for people living with a rare disease.

Taking place online from 27 June to 1 July, the ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation take place, forming the groundwork to shape goal-driven, rare disease policies and allow for important and innovative discussions on a national and an international level to take place. Leading, inspiring and engaging all stakeholders to take action, the Conference is an unrivalled opportunity to network and exchange invaluable knowledge with over 1500 stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, healthcare industry representatives, academics, payers, regulators and Member State representatives. REGISTER NOW FOR ECRD 2022: •

Visit the conference site here

PRINCIPLES TO DESIGNING A SENSORY GARDEN BY MATT HUGHES

HEALTH

Imagery courtesy of Matt Hughes

Matt Hughes and his wife Ali are proud parents to a beautiful little boy called Charlie, who when he was still just a baby was diagnosed with a rare and catastrophic form of epilepsy known as infantile Spasms (West Syndrome). Charlie’s complex needs and disabilities have changed life for Matt and his family in many ways. Recently they moved into a bungalow which they will be able to adapt to his needs as he grows. The new house has a garden which Matt, who until recently worked as a garden designer and whose achievements include a show garden for the Sandringham Flower show, wants to turn into a sensory garden. < Matt & Charlie

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We have recently moved, and having more outdoor space means that we can create a sensory garden for our son. Inspired and excited by this opportunity our ideas for what we might create began flowing. Our son Charlie has severe epilepsy and global development delay which leaves him requiring constant care. Recently since his seizures have been well controlled and he’s really begun exploring his surroundings in a sensory way. He loves to bounce on his knees/bum, and he uses his mouth to feel and explore objects as well as his hands, he also loves bright lights, water and sounds, all of which got us thinking…

A sensory garden is all about stimulating and engaging the five basic senses of sight, smell, sound, touch and taste.” MATT HUGHES

This type of garden not only allows you to connect with nature, but encourages you to become more aware of your surroundings and your response to them, tapping into the principles of mindfulness. Spending time in a sensory garden can help enhance your sense of wellbeing, reduce stress and calm your mind. The core principles to designing any garden are style, structure, shape, form, colour and focal points. For example the style you choose could be exotic or formal, or country garden, there are so many options. Once this has been decided you’d then look at structure – things like paths, hedges, fences, ponds and trees, also considering the shape and form of these whilst remembering the overall scheme of the garden. If you wanted a more formal feel you’d want to create straight sharp lines with lots of symmetry – topiary would be great choice to add structure and shape. You can further extend the shape and form using carefully selected plants, by looking at the leaf and structure of the plants and adding points of interests within the garden border.

You can go overboard with colour, so keep it simple using the green as a framework which holds the garden together and serves as a backdrop for other colours. Colours create moods and illusions, use no more than one colour theme thinking about contrasts or colours which harmonize. Sunlight and shadows can influence colour scheme, generally early spring are pastels, and then as the summer extends these change to vivid hot colours. The use of plants that change colour throughout the seasons can be used to add changing focal points. Remember to check where the sun travels around the garden, how many hours are particular spots in sunlight/shade – this helps choose the right plant for the condition.

HEALTH We have begun designing our garden using these principles, but with specific focus on Charlie’s needs, needs which might be very different to those you will need to consider in your garden design. One thing that it can really help to consider is that your sensory garden could be thematic, which means you might have it laid out to stimulate individual senses at different times, using the space to journey through the senses by separating your garden into distinct sense zones, such as sight, smell or taste. Or you might instead opt for a multisensory mixture, where you bring together and mix different elements to engage multiple senses at once.

We will need to consider that paths and access points be made wide enough for wheelchair access, but we also want him to be able to explore independently so the material used will be important as he’ll bounce! So rather than grass which needs regular mowing, we are planning on introducing chamomile which is low growing and low maintenance, and has little white flowers and a strong scent which will be released as he bounces across it.

Sunlight and shadows can influence colour scheme, generally early spring are pastels, and then as the summer extends these change to vivid hot colours.” MATT HUGHES

Imagery courtesy of Matt Hughes

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Texture and rhythm is next, and we will be using plants that he can hold and explore without causing him harm (always check for poisons or irritants). You can be really creative using plants with different textures; ornamental grasses, such as pampas grasses (Cortaderia), and architectural seed heads, can add interesting structure and movement. Leaves with striking natural designs are both a treat for the eyes and will add drama to your sensory display. Persian shield (Strobilanthes dyerianus), fan plant (Begonia rex), and plantain lily (Hosta) are just a few eye-catching examples. In addition you can vary the presentation by choosing creeping, hanging, straight standing or miniature plant species. We all love the fragrance the summer garden can bring, the use of lavenders and various different herbs (mints, rosemary, sage, honeysuckle and jasmine) will really help bring your summer garden alive! ^ Texture & rhythm of planting, Matt Hughes

Charlie loves water – but of course ponds and children can be dangerous, especially for children with strong sensory needs. To help reduce any risk we have decided to include a nature pond, which can remain shallow, and utilizing pebbles and stones at the water’s edge will also discourage him from exploring too far and help keep him safe. There is also the option of introducing water features with mirrors or waterfalls which adds sound, and are a great sensory tool adding reflections and contrasting textures. A twinkling drop of water catching the sun is truly a sensory joy.

And while it is true that designing, building and maintaining your garden will take some time, thought and continued care gardening can have such a positive impact on our own mental health and emotional wellbeing too. And as parents of a child with many additional needs the beauty of something that will bring us all joy is not to be underestimated. This quote sums it up perfectly for me;

We may think we are nurturing our garden. But of course, it’s our garden, that is really nurturing us.” JENNY UGLOW

Written by Matt Hughes

RARELY HEARD

Rarely Heard is a podcast series that has been created in partnership by Beacon for Rare Diseases and Same but Different

Rarely Heard focuses on the personal perspectives and challenges of those living with some of the world’s rarest diseases. In our first series we talk about the mental health of patients and carers, and the challenges they face whilst highlighting the people, projects, and approaches that have helped them. In each episode we are joined by a guest from the rare disease community. Talking all things rare, mental health, and anything in-between.

It’s so incredibly important to keep talking, to keep listening, and to keep sharing. The stories, experiences, the knowledge and the insights that those living in the rare disease community should not be just Rarely Heard, but widely shared. TAKE A LISTEN •

You can listen to all episodes in the series here

^ Season 1, Episode 7 features Matt Hughes www.samebutdifferentcic.org.uk

HEALTH Maggie’s Southampton > © Hufton & Crow

THE OF

architecture

HEALTH

Anyone who has spent time anxiously waiting in a tired, old and drab NHS hospital corridor, a windowless treatment room or even in a harshly-lit onsite café could be forgiven for thinking that the physical building has no role to play in the treatment of ill health that goes on within it. And yet we do not need to go too far back in time to revisit the beautifully light and airy sanatoriums, or the 19th-century mental asylums that were designed with staggered wings and extensive landscaping to see that there was a time when the building, the actual physical environment, was viewed as being absolutely central to the medical treatments within. At Maggie’s, the architecture of a building is central to their philosophy - everyone’s home for cancer care! As a charity whose mission is to provide free cancer support and information in centres across the UK, they are passionate about the importance that good design plays in wellbeing. Each centre is based on an NHS hospital site, and are built in partnership with the clinical cancer teams within the hospital who see, and want to support, the need for broader, holistic and far reaching cancer care strategies that go beyond that which the NHS can offer. Maggie Keswick Jencks was a garden designer, writer and artist, and was married to Charles Jencks, an American cultural theorist, landscape designer and architectural historian. They were in Scotland in 1993 when Maggie, at the age of fifty two, was told that the cancer from which she had recovered five years earlier had returned, and was terminal. Maggie was given this news by an overworked doctor, one we all might recognise if we’ve spent time within our wonderful, yet historically hugely under-funded hospitals, and was left to process the enormity of it in a windowless corridor. It is absolutely telling that despite the shock of the news they’d been given Maggie and Charles found themselves talking about the ‘need for somewhere ‘better’ for people with cancer to go, outside of but nearby to the hospital’, and so the idea behind the Maggie’s was born.

HEALTH

My background is nursing and I was a clinical nurse specialist, Maggie was my patient. She came to our hospital with advanced breast cancer having been told she had three months to live. And I gave her her chemotherapy, and was part of her clinical team. Maggie’s grew out of her experience of being treated on the NHS. Whilst the NHS was fantastic in aspects of what it did, there was stuff missing for her in terms of going through her cancer experience, which led her to have the idea for Maggie’s.” DAME LAURA LEE DBE, the Chief Executive of Maggie’s has been an integral part of Maggie’s since the very beginning. ^ Dame Laura Lee DBE Maggie fought hard to stay well, and went on to live for another eighteen months, precious time in which she and Charles designed the blueprint for the centres together, and also enlisted the help of some of their friends including some of the architects who’d go on to help design the centres. Maggie felt strongly that what was important was that she, that we, should “not to lose the joy of living in the fear of dying.”

She believed strongly that beyond the medical treatment for cancer that the NHS offered, there needed to be a holistic approach to providing support, understanding and indeed space to those living with cancer. That the centres which provided this needed to be beautiful, thoughtful buildings with welcoming outdoor spaces that offer a home from home, spaces that are designed to feel nothing like a hospital.

Maggie’s Southampton © AL_A

There’s a kitchen table, a cup of tea and that sense of COMMUNITY, that sense of NOT BEING ALONE.” LAURA LEE

The first Maggie’s opened in Edinburgh in 1996, and although there are now a number of centres, including overseas, they each feel connected. Each centre is designed with the original blueprint as its starting point, and although each centre is unique and sits comfortably within the landscape in which it lives they all share an underlying feeling. They are designed to be ‘calm, friendly and welcoming places, full of light and warmth, offering glimpses and views of the nature that surrounds them.’ Each centre has a table situated at the heart of the building, so that when you walk into Maggie’s, ‘there’s a kitchen table, a cup of tea and a sense of community, that sense of not being alone.’ The carefully curated and always thoughtful centres also offer spaces to find privacy as well as places to come together as a group.

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Maggie’s centres are open for people to just drop-in and no referral is needed. For Laura and her team the ability to welcome, to support and to accompany individuals and their families or loved ones as they are on their cancer journey is what sets Maggie’s apart, and it is at the centre of the way in which each Maggie’s is structured. This ethos is a reflection of the reason Laura chose to become a cancer nurse.

While I was going through my cancer and through my nursing training I spent some of my placements in cancer wards. My first job as a staff nurse was working in a cancer ward and I think what I particularly was drawn to was the capacity to have, and to build, a relationship with the person and the family, which is very different from working on a surgical unit where people come in for their operation before leaving, and then you don’t see them again. That’s one of the things that I value about what our centres are able to do, is to build long term, meaningful relationships.”

•

Put simply, Maggie’s centres are a true reflection of what can be achieved when there is a meaningful conversation between architecture and health, between primary and secondary care.

• •

The Architecture of Hope, written by Maggie’s Co-Founder Charles Jencks. The Architecture and Landscape of Health: A Historical Perspective on Therapeutic Places 1790-1940 Healing Spaces, Modern Architecture, and the Body by Sarah Schrank

TAKE A LISTEN You can listen to Dame Laura Lee’s full interview with Ilmarie Braun, Same but Different Project Manager on our podcast, Rarity Life Heard.

Maggie’s offers practical, psychological, and emotional support to anyone with cancer and their families. You can walk into any of our centres and get the support you need. Our expert staff will support you after any cancer diagnosis, through treatment and beyond. Just come in, you don’t need an appointment and all our support is free. We’re here Monday to Friday, 9am–5pm.

Find out how we can support you

maggies.org

00 Maggie Keswick Jencks Cancer Caring Centres Trust (Maggie’s) is a registered charity, no. SC024414

Letters to BERT

Andrew Draper, Unsplash

The ability to share our experiences, and to create a broader and louder voice is very important, so we are delighted that Claudia has shared her private thoughts with us through this article.

^C laudia Brown

The attempts to return to sleep were futile. I was now participating in a mental disagreement with myself over whether it was necessary to pair socks or not. My mental quandary was finally resolved when I worked out that the average person looses two weeks of their life pairing socks, assuming they do so for 5 minutes a week until they are 70 years old. I would definitely trade the social judgment in receipt of these two weeks. I looked down to the socks I had thrown on my floor from the previous day, to my delight they were odd. They were so odd in fact that one had animals on it and the other was fluffy.

LIVING WITH Unfortunately though, the level of oddness did not qualify for additional time added onto life. That would be a world I would trade to live in. A world where you choose your length of life. Where we are all masters of our own fates, decided by our choice in socks. We could all be known as the sock puppeteers. This is definitely a world I would like to live in.

My reality however was very different. I knew the reason that I could not get back to sleep, but I did not want to think about it, I wanted to stay in this world for as long as I could. My thoughts however demanded attention, and my awareness was brought back to reality. I started to write how I was feeling and before long I had consolidated my thoughts into a letter. I addressed it to the reason I could not sleep. My acquaintance.

Dear old acquaintance, Do you remember when we first met? I remember it so vividly. I had heard a lot about you, your reputation proceeded you. I saw how much regard people gave you when they spoke your name. You demanded attention. You demanded to be seen. It’s fair to say that you were unforgettable. We met in the hospital; can you recall it? I was only nineteen years old. I remember feeling resilient, seeing you as a mere inconvenience. Little did I know that you weren’t finished with me back then. You turned up 5 years later, and this time you took more. I was studying at the time and had surgery and chemo in my summer break. When I returned to uni no one knew. That’s how insignificant you still were to me. But nine years later you greeted me yet again. Half my bowel, stomach, gall bladder, spleen, reproductive system, were just some of the parts you claimed and were no longer a part of me. I departed with them freely though in the hope that you would finally leave for good. That hope became a reality. I was given the all clear, and you were becoming a distant memory. I was concentrating on life. I wanted to explore. Expand. To fill my surroundings and re-enter into the world from which I had known. I was forming my new life matrix. All those difficult times I had endured just shattered amongst the reality of my new future, forming the building blocks to rest my feet on as I walked towards my new life. I felt hopeful. Optimistic. A part of something bigger and exciting that I couldn’t wait to explore. My future was a canvas and I were the brushstrokes, ready to make my mark on the world. This celebration however would last less than a year. You came back for a 4th time, but this was different. You were different. You refused to leave. You were indiscriminately cruel showing up two weeks before my dad died. You didn’t even give me a choice to say what I wanted. But that’s what you’re good at, removing choice. Choice of life, choice of being able to create life, choice of how I go to the toilet even. You made it so I had to go in a bag. Well fuck you I called my bag Gizmo and we became friends. You prick! Is that what you want? ANGER? ………PAIN? FEAR? SADNESS? Psychologically you are all consuming to me. You have taken so much away from me already, but it is not what you have taken that I fear, It is what you are going to take. I do not accept you. I want you to change. I want a world where you do not exist. Yours Sincerely,

The Self

www.samebutdifferentcic.org.uk

I thought that writing the letter would feel cathartic but instead I was left feeling angry and fearful. I had six months left to live, my world had significantly shrunk, and I was not the person I once knew. I desperately wanted to connect to my resilience, but I wasn’t sure where she was anymore. I think we’re playing an epic game of hide and seek, except I’m not looking for her, I’m running away from her instead. How do you find something you’re not even looking for? I needed to become an active participant in this game. I needed to become a seeker and stop hiding. I didn’t want to get rid of anger or fear. I valued them but they are not the whole journey, they are a sum of the parts, and my quest is to find the other parts.

I sat at the end of the bed thinking about the last time I was resilient. The visual imagery was so vivid that I started to see the mental image reflected back within the glass in my mirror. The colors were so vibrant, I could hear the sounds vibrating all around me, the smell of the room changed, and I could hear every sound as if I were there. I was transformed into a world of strength and compassion. It was vibrant and dynamic. Full of joy and meaning. My eyes transfixed on a reflection that was so familiar to me yet was part of a memory. The thought of our distance gave rise to sadness, but she acknowledged the thought and gave space for something else. It felt different. I felt different. But I didn’t know why. I asked her to show me.

Dear Self, You describe a world where choice has been taken away from you, but have you thought that your old acquaintance will never be able to remove the choice you have in how you deal with this. This is your choice. How do you choose to respond? Cancer is like a boat on a body of water; you can not change the size of the boat, like you can not change the fact that you have cancer, but a boat in a lake would appear bigger than a boat in the ocean. What choices will you make to expand your body of water? What gives you meaning? Purpose? Joy? Follow those as guides. You have created a world where cancer has become bigger than you. You are living in your metaphorical ocean, but instead of allowing the waves to support you, you are being drowned by them. I know you feel scared and I am not here to tell you it will be ok, because I do not know, but what I do know is that there is a part of you that transcends this fear. It is connected, curious, creative and compassionate. Her greatest gift to you is that she lives in the here and now. She is not confined by time because time simply does not exist to her, she lives in the present moment. There is no past or future in her awareness. Your fear of dying is future orientated and removes you from being present. This part wants to show you how to let go of this fear. Imagine that your thoughts are on a conveyor belt, you are simply watching them go by with no emotional attachment to their origin or purpose. They just are. Acknowledge your thought, and bring your awareness back. This part does not want to change you, she wants to show you another way. A path of acceptance and love not fear. In connecting you to her I wonder how you choose to stay afloat in your ocean, instead of being controlled by it. Will you be guided by your creativity and choose a whimsical boat, with mushroom shaped turrets and bold colorful sails. Or perhaps by your curiosity and instead of concentrating on the vastness, instead you see a playground of water, ready to be explored. You have the power to choose which lens you look at this through. You have an infinite array of choice and I am gifting you this insight. There is hope, there is possibility and there is courage. Stay curious, love always

Self

I looked down at the words my resilient part had written. I felt like I had gone on an epic quest that led me through the fires of anger, and the swamps of loss and sadness arriving at a song which rhythm was manifested into the rocking back and forth of the boat I was being supported by. My symbolic emotional container holding all my reunited fragmented parts. I felt hope. I felt empowered, and along the way had found myself. I was ready to let go. All my parts were unified once again and together they wrote one last letter.

Daria Tumanova, Unsplash

Dear old acquaintance, I will not give you the power that your name demands. You have many aliases, cancer, tumor, Pseudomyxoma peritonei, but I know you as Bert. You’ve been in my life for 17 years now, a shadow to my soul. Shaping how I see myself, and move through this world. Together we have learned SO much. You have given me the opportunity to get in touch with my strength, to be able to see this as a gift, a gift of insight into what truly matters, and for that I am thankful, but you will not make me a victim to my own life. IT’S TIME TO LET GO. Although our fate is bound, and I grieve my mortality, I will not give you the attention you so crave. For I am now on my whimsical boat, looking at your destruction, and I choose to expand my body of water. You will feel so small in comparison. For now, you have claimed my body, my fear has been named, but you will never claim my spirit. That is beyond your reach. We will not meet like this again, for I am different. Today I am THE WARRIOR. I stand still, I stand tall, and say farewell to you my old acquaintance.

Written by Claudia Brown

BE A CONTRIBUTOR TO RARITY LIFE We always love to hear from our readers, especially when they share their stories. If you’d like to contribute your story email us on the link below. GET IN TOUCH

www.samebutdifferentcic.org.uk

TEEN VOICE < Tayen Coppard photographed by Ceridwen Hughes for Same but Different’s Days of Rare exhibition

Acceptance is a HOT TOPIC At just 15 Tayen has lived with her rare condition, hypohidrotic ectodermal dysplasia, all her life. Describing one of the more unusual aspects to her condition, Tayen explained; “My body can’t regulate my temperature. So for example if I get too hot my body doesn’t know that. It doesn’t sweat so I can’t cool down, and I don’t know that I’m getting hot.” Tayen and her family have to look out for telling signs and symptoms of changes in her body temperature such as a change in skin or lip colour, or shaking when cold. An extremely high or low temperature is dangerous for anyone, but in Tayen’s case it is more likely to happen, and if the signs are missed it can become fatal. Along with the inability to regulate her temperature there are other symptoms of her condition that affect her, and include very thin skin, little body hair, as well as issues with her nails, eyes and teeth. “I don’t have a lot of body hair, my legs are completely soft, I know this is a blessing for most females. Sometimes my skin will be dry and I get breakouts of severe eczema. I have no eyelashes or eyebrows and my hair is very fine with a lot of bald patches on my head. I suffer from dryness in my mouth and my eyes, I’ve only got saliva glands around one side and I am missing some oil glands in my eyes. Sometimes I wear contact lenses, but I have to put some extra solution in because my eyes just get so dry and painful.”

www.samebutdifferentcic.org.uk

TEEN VOICE Juggling the realities of her hypohidrotic ectodermal dysplasia with the challenges of teenage life is something Tayen takes in her stride, but it isn’t always easy. For the past two years she has been home-schooled and isolated due to her increased vulnerability to covid. It’s been a difficult few years where Tayen has missed out on spending time with her friends and peers, and has had to adapt to remote learning. She is now busy studying for her upcoming G.C.S.E’s; “It’s very hard at this age, because I’m having to do not only my G.C.S.E’s from home, but I’ve had no teacher and no one-to-one learning for two years. So from year nine, I’ve had nothing. The teachers have tried their best obviously, they can only do what they can do. It’s difficult also going on social media and seeing all of your friends out together so I am missing out, but I’d rather do that than have no life potentially.” She understands that she is different but at the same time she is just like any other teenager. Her positivity in life and her outlook on being a teenager with her condition is inspiring. “From having my condition my whole life, I’ve learned as I’ve got older that actually, it doesn’t matter that I’m different. We all are different! With bullying, I just try to rise above it because it’s not going to go anywhere. I know I am going to have it my whole life so I have to live with it and know that I know I’m not going to have the same life as everybody else. I used to get really upset and wanted to be like everyone else, but as I have gotten older I realise that I can’t change my condition. What someone thinks about me is their opinion so why let someone else’s opinion of you change the way you see yourself?” This is a remarkable outlook to have on her life and it speaks of Tayen’s maturity and selfconfidence. She is very level headed about being different and this is also in part due to her family’s constant support. Her close-knit family give her the confidence she has today; “I live with hypohidrotic ectodermal dysplasia but I don’t let it control me. I have the condition but it certainly doesn’t have me. My mum and dad have always been very honest and open about my condition. We have open conversations and they have never kept anything from me the good or the bad, and I know how my condition affects me!”

I’ve learned as I’ve got older that actually, it doesn’t matter that I’m different. We all are different! ... Why let someone else’s opinion of you change the way you see yourself ?” TAYEN COPPARD

What is Ectodermal Dysplasias ? Ectodermal dysplasias (ED), are a group of at least 150 inherited disorders that can involve defects in the hair, nails, sweat glands and teeth. The ectoderm contributes to the formation of the lens of the eye, parts of the inner ear, the fingers and toes, and nerves, among others. Therefore, ectodermal dysplasia may cause these parts of the body to develop differently. The symptoms can range from mild to severe, and although there are no cures for ectodermal dysplasias, there are many treatments available to address the symptoms.

^ Tayen Coppard photographed by Ceridwen Hughes for Same but Different’s Days of Rare exhibition Tayen wants to help raise awareness of her rare condition, but not just her condition, because in an ideal world she wants the world to be a kinder and more understanding place for anyone who is different, or who has a rare condition. “Realistically you can’t expect someone to know every single symptom of a condition or rare disease but you can expect them to be understanding and treat you the same. People really should know rare conditions affect some people and being different isn’t a bad thing. We may look different or need different support in our lives so we can live a fuller life, but we really are just all the same. Different but the same, with our own personalities, likes and dislikes.”

FIND OUT MORE •

Visit The Ectodermal Dysplasia Society for more information and support

DAYS OF RARE •

You can take a look at more Days of Rare stories on the Same but Different site here

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You can also listen to Tayen’s podcast episode here

www.samebutdifferentcic.org.uk

MALLORCA holiday guide Mallorca, the largest of the Balearic Islands is only a 3 hour flight (on average) from most UK airports. With stunning beaches, a range of family friendly resorts and it’s vibrant capital Palma de Mallorca, the island is a perfect summer getaway location. Mallorca has some of the very best accessible beaches and facilities in the Mediterranean. The destination is also famed for its stunning orange and almond tree groves, the island is arguably more picturesque away from the tourist hotspots. We are excited to share with you some of the best places on the island in our travel guide, because we think that Mallorca may just surprise you.

^ Photograph by Reiseuhu, Unsplash

WHERE TO STAY You could stay in historic 19th century convent in Ariany, where 9 of the rooms in the renovated convent are adapted with accessible bathroom facilities and patios overlooking the Mallorcan countryside and the hotel’s ramped pool. Despite it’s countryside location, the convent is within short driving distance of accessible beaches at Ca’n Picafort and Playa de Muro in the north of the island. If you’d rather enjoy sea views, Iberostar Selection Playa de Muro Village is a beach resort, to find out more click here. In the heart of Palma de Mallorca, Melia Palma Marina is a chic modern hotel in the city, boasting sea views and close to everything that the capital of the Balearics has to offer.

ACCESSIBLE TRAVEL

BEST BEACHES ALCUDIA One of the largest beaches on the island with shops & restaurants along the front. Reserved parking allows wheelchair users access to the beach, which also has a shaded disabled area, amphibious chairs and a hoist. PL AYA DE MURO

^ Photographs by Pelayo Arbues & Maurits Bausenhart, Unsplash

SIGHTS IN THE CITY Palma de Mallorca has so much to offer. A short drive from airport, the capital of the island has incredible places to eat, drink and shop. Mercat de l’Olivar is an impressive indoor market, showcasing produce from the Island – a ‘must visit’ for any foodie. Architecturally Palma’s ‘Old town’ district is home to the imposing Cathedral, the incredible Plaza Mayor and some of the city’s old gothic mansions. A little out of the city is Bellver Castle, which is well worth a visit for the stunning views alone. Close by is the home and studio of the Spanish painter Joan Miro, and the site is now a gallery and exhibition space.

SANT ELM

MALLORCA

PORT DE POLLENSA ALCUDIA

PORT DE SOLLER

PL AYA DE MURO VALLDEMOSSA SANT ELM

ith boarded accessways W across the dunes to the beach, Playa de Muro is a stunning beach in the north of the island. Recently awarded an ISO Certificate in Universal Accessibility, the area has accessible parking, swimming areas and w/c as well as being a brilliant beach for accessible water sports – the sailing school’s teaching programme has adapted equipment for windsurfing, surfing & paddleboarding. The area also hosts the annual Mallorca Paracycling tour, which takes place in October this year.

ARIANY CALL A MILLOR

PALMA LLUCM AJOR

CALL A D’OR

At the base of the Tramuntana mountains, with views of the Sa Dragonera island nature reserve, the beach is in a gorgeous location. With facilities including an accessible shower/ changing room and accessible ramps and path ways, there is a safe area for amphibious chairs with support staff on the beach between 10am – 7pm in high season.

CA MPOS ES TRENC SANTANYI

DIAGNOSIS MATTERS, FINDING PEOPLE ON THE SAME PATH My name is Becky and I am a proud wife to my husband Carl, and mother to my three beautiful children, Isabella aged 3, Joshua aged 2 and Avary aged 8 months. My two youngest children and I share the rare condition Koolen-de Vries syndrome (KdVS).

^ Becky and her daughter Avary

KdVS can be inherited (passed down from previous generations) or it can occur spontaneously during conception. How KdVS manifests in each individual varies as it can cause both health issues (epilepsy, heart and kidney problems) and developmental issues (hypotonia, speech and language delay, learning difficulties). I didn’t find out that I had the syndrome until I was 37 years of age after my son was diagnosed with hypotonia in hospital when he was born in March 2020, and we required extensive testing to find the cause. The geneticist emailed me in May 2021 to say she had a diagnosis for Josh and to expect a call that morning, I still remember hearing Koolen-de Vries syndrome for the first time and wondering what on earth it was as the name was completely new to me. So to then hear he inherited it from me was an even bigger shock to my system. I felt an enormous sense of guilt and anxiety arise in me as I grappled to take it all in. At the time of receiving my diagnosis I was pregnant with my daughter, and so I was also told that I could also pass it on to her as it was inherited by me, rather than it having happened randomly to Joshua.

^ Daiga Ellaby, Unsplash

We were the first in the South West of the UK to be diagnosed using a tri genome sequencing test, this involved a blood sample from myself, from my husband and from Joshua. Our blood was tested to see if there was rare genetic condition which was a match for any of us, it turned out that it was me and Joshua that came back with a match for the syndrome. I thankfully have both a brilliant geneticist and genetics counsellor who are both very supportive & understanding of my fears. They suggested on first being diagnosed that I look at the Koolen-de Vries foundation site for information which I found helpful and informative.

OUR LIVES

I would always recommend any newly diagnosed families to seek support from others on a similar journey, as it has made a world of difference to me.” BECKY TILLEY Soon after finding the site, I found Facebook support groups to join. This was an enormous comfort for me, as to be able to see and to hear from so many families all over the globe who are walking a similar path to ours really helped to relieve the feelings of isolation. I have since set up my own UK KdVS Support Group as it’s helpful to know what specific support is available in your home country. An example of this is American sign language and Makaton, which is the sign language we use here in the UK, as both countries do their signs differently. We all have our stories to tell, progress to celebrate and challenges to overcome, and we are stronger when we do it together as a community.

I had always felt different to my peers growing up. In hindsight it makes sense now, and I have since found out that a friendly, cheerful and cooperative personality is a common KdVS trait as are learning difficulties. But it can be very challenging as a child to know that you are not like other children, thankfully I could always make friends. My headteacher was surprised that I was in special needs classes for English and Maths at our mainstream school. He said rather than being withdrawn, I was very friendly, sociable and open to making friends. Being different to most was evident all through school as my learning difficulties sadly made me an easy target for bullies. My struggle to learn the same way as others in my class had a big impact on my self-esteem. I did however always love English class and my love of reading and writing has continued, writing in fact has become a huge passion of mine.

What is KdVS ? Koolen-de Vries Syndrome is genetic syndrome involving the 17th chromosome and is caused by a microdeletion at 17q21.31 (including the KANSL1 gene) or is caused by a change or mutation of the KANSL1 gene. The microdeletion or the KANSL1 mutation causes developmental delays, learning difficulties and can cause a number of other health concerns.

Becky’s son Joshua > Imagery courtesy of Becky Tilley (unless stated otherwise)

www.samebutdifferentcic.org.uk

Through our diagnosis we have come to embrace and celebrate what makes me different, as that is the example I want to be for my children to look up to. I’ve had many periods in life where I’ve wished to be “normal”, like the majority of people, but now I actually appreciate and value what makes me “me”. I have always encouraged people and my desire to make a positive difference in the world has only grown following our diagnosis. By setting my own example I want to start challenging others to see that there is immense value and beauty in being one of a kind. Through it, a new and rare way of being is expressed in the world and I believe that to be a wonderful thing. A way of reminding people that it is more than okay to live and enjoy life in a unique way that is true to you. From my own life experience I imagine that developmental delays and learning difficulties will be a part of the way KdVS effects my children. My son was born hypotonic and my daughter is developing very similarly, and even though she was not considered a floppy baby as a new born neither was I. My son also has speech and language delays. I continue holding on in faith for those first words and I am very encouraged by his excellent understanding. Though I had learning difficulties all through school I did go on to achieve a diploma in performing arts in Drama, and also gained various childcare qualifications at college. I have hope for my children, and I hold on to this hope that they too will discover what they enjoy and love to do in life and go on to achieve great things. Written by Becky Tilley, KdVS woman, Mama and advocate

FIND OUT MORE: •

Visit Koolen-de Vries foundation and UK KDVS Support Group set up by Becky Tilley

What I want parents of rare kids to take away is this, yes your kids may learn, think, act and express themselves in ways unlike most others but they are still capable of achieving great things in their own way. Look out with a close eye for each and every step of progress, encourage them to do more of what they enjoy and are good at while supporting them in areas where they struggle. We all in this life are unique with our way of experiencing the world, tap into your child’s way and have faith that by doing so you can encourage them to thrive just as they were made to.” BECKY TILLEY

Joshua

GENETIC ALLIANCE

Genetic Alliance UK is the national charity working to improve the lives of children, adults and their families affected by all types of genetic, rare & undiagnosed conditions. Established in 1989, we advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community. Genetic Alliance UK run two long standing projects: – Rare Disease UK, a campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment. Rare Disease UK is the official organiser of Rare Disease Day in the UK. – SWAN UK (syndromes without a name), the only dedicated support network in the UK for families affected by a syndrome without a name – a genetic condition so rare it often remains undiagnosed.

FIND OUT MORE: For more information, or to find out about becoming a member, visit the Genetic Alliance UK website.

www.samebutdifferentcic.org.uk

QUESTIONS WITH

Martin Roberts

We are a family of 5, Vicki and I have 3 children, two of whom have additional needs. Nathaniel (14) has a rare genetic condition called Cri du Chat syndrome and Abilene (4) has quadriplegic cerebral palsy. Jake (8) has Irlene’s syndrome and wears corrective colour glasses. I have multiple sclerosis and Vicki is the foundation of our family, with mental strength and love to keep us all going. Without the mutual support we give one another, we wouldn’t be able to support our children to make sure they live a happy and enriching life. < Martin Roberts, imagery courtesy of Martin

What does a typical day in the Roberts’ household look like? What helps our children is routine which we try and keep to each day. Vicki and I both work and I leave before and get back after everyone else. Nathaniel has a PA and is out three times a week which, at times, feels like a little respite. Jake is busy with football and swimming and Abilene enjoys her swimming lessons.

If you could offer any advice to other families on their own rare journeys, what would it be? I live by the mantra “control the controllables”. There will be times when you feel like the whole world is against you, and to manage the stress and frustration break down what is in your control and what isn’t. If you can learn to accept that some things are out of your control, it makes dealing with those frustrating times easier. It also allows you to focus on the good and the happiness that only those experiencing their own rare journey can experience.

What do you do for yourself? Besides going to the football with my dad, I enjoy telling stories and making rhymes with my children. This led me to writing, illustrating, and getting my first book published. Grandma Saved a Bumble Bee is based on a real-life story and it’s becoming really popular with a number of libraries interested in including it and I have some readings and signings planned. This little hobby of mine now has its own website and a mailing list. My kids want me to write a story for Christmas and so that is what I am working on next. I might do this for myself but it brings my family together and I really enjoy doing these things with them. Reading stories each night to them is important and they are really excited to have their copy of my book.

5 QUESTIONS WITH

In sharing your story what would you hope to achieve? Hope and reassurance perhaps. While we all live through these rare journeys, we can quite often feel alone and helpless, but that is far from the truth. There is a network of people available to provide support and there is no shame to ask for help and to take as much help as possible. Control those controllables, enjoy and celebrate the positives and start each day with a fresh mindset and you’ll find that journey a little easier to manage.

Control those controllables, enjoy and celebrate the positives and start each day with a fresh mindset and you’ll find that journey a little easier to manage.”

Jonny Gios, Unsplash

What makes the Roberts’ family happiest? We are big on inclusion and while we give each child their own activities, we feel it’s important that we do things together and that is when we are the happiest. We are members of Chester Zoo and will quite often go there for a couple of hours on a weekend. Pick what animals the kids want to see, get there early and enjoy the walk then get home in time for dinner. We go Centre Parcs every year and fill the days with lots of activities, we do family swimming and enjoy the SEN activity days that the Ellesmere Port Sports Village puts on. The kids especially enjoy the wheelchair basketball. Sometimes we will do family movie night and get sweets and popcorn, but Nathaniel and Abilene lose interest halfway through, but at least we watched something together. When the kids are happy and at peace, Vicki and I are happy.

^ Martin’s children

FIND OUT MORE: •

Visit Martin’s site here to find out more about Grandma Saved a Bumble Bee

UNIQUE

This year’s Rare Chromosome Disorder Awareness day is fast approaching, on Thursday, June 16th. Led in the UK by the charity Unique (www.rarechromo.org) it will be a day to celebrate and educate, inform and support. Unique would like as many individuals, patient support groups and other organisations to join them to share content, tell people about rare chromosome and gene disorders, create their own messages and just celebrate all the special people living with these rare conditions. Don’t worry if your condition isn’t a rare chromosome disorder, Unique are happy to help put the spotlight on anyone with a rare condition. Sarah Wynn, CEO of Unique, commented that

Only by working together to increase awareness and understanding can we begin to make life better, with improved care, treatment and outcomes for all those living with rare chromosome and gene disorders.

HOW CAN YOU GET INVOLVED? It doesn’t have to take loads of time or resources, it can be as easy as you like... Unique are just asking you to help spread the word. •

For more about what’s being planned and what you can do please see the Unique website

•

Whatever you do on the day, even if it’s just a tweet or an Instagram post, please remember to use #rarechromoday

Rarity Life Issue 02

Articles inside

Looking to the future with Professor Shahida Moosa

The architecture of health with Dame Laura Lee MBE

"Life... be in it" with Tully Kearney MBE

The art of creativity by Annie Dewhurst