Rarity Life Issue 3

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DAYS of RARE EXHIBITION LAUNCH ISSUE A TRULY INCLUSIVE M AGA ZINE FOR THOSE AFFEC TED BY R ARE DISE ASE , DISABILIT Y OR C ANCER ISSUE 3 A Same but Different Publication


EDITORS LETTER

ARITY

Living your best

LIFE

HI! We are delighted to share our latest Rarity Life magazine with you. It is packed with stories from people who have lived experience of cancer, rare disease and disability. We are also excited to launch our latest exhibition Days of Rare. One of the barriers many face is encouraging people to want to look past a condition and want to know more. We hope this exhibition draws the viewer in and leads them to take the time to read the stories, watch the videos and listen to the podcasts that accompany the exhibition. We are, as

ever, incredible grateful to everyone who contributes their time, effort and stories to this magazine and Same but Different. Working collaboratively and giving people a stronger voice in their communities is of huge importance to us. Please do let us know what you think and if you would like to partner with us, in any way, get in touch. Ceridwen

MEET THE TEAM

Ceridwen Hughes

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Ilmarie Braun

Katy Parry

Andrew Pearson

Claire Li

Emily Todd


CONTENTS

This Issue Issue 3 | Autumn 2022

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Beauty of Rare Fashion By Ceidwen Hughes

Days of RARE gallery spotlight

Spreading Wings by Annie Dewhurst

Vienna holiday guide

Reshaping the Future with Dr Liz O'riordan

Through a child's eyes in conversation with Bernd Roesenbichler Culture our choices

Facing the Future contributed by Sam Alexandra Rose

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Hope for Rare with Caroline Kant

Seeds of Hope

Welsh Rare Disease Implementation Plan

Hope for Hasti by Chris Brannigan & Hengameh Delfaninejad Dare to Dream with Amanda Hartley

Access to Joy with Kirsty Hoyle

Five Questions with Fiona Murphy

Directory

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STYLE

BEAUTY OF

RARE FASHION

Throughout the creation of the Days of Rare project the choice of clothing was integral to the overall look and feel of the images.

Hannah Harpin has Hay-Wells Syndrome. All photographed by Ceridwen Hughes

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STYLE

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Striking GOLDEN Caroline has Behçet’s Disease. She wears a bronze lurex dress by Boden, with a scooped back and a flattering fit and flare cut. £180 sizes 6-22 (sale price £108) www.boden.co.uk

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STYLE

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In the PINK Michelle has Myasthenia Gravis. Pink sequin dip hem dress by Quiz.

£46.20 www.quizclothing.co.uk

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STYLE

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no longer a caged bird - fly free and leave your worries behind

VIBRANT reds Angela wears a red mesh tiered maxi dress with a tie waist £229 (sale price £114) www.coastfashion.com


STYLE

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Feeling BLUE Tayen has hypohidrotic ectodermal dysplasia Faux fur collared coat in Midnight Blue sizes 10-20 £75.00 www.roman.co.uk

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Days of R A R E E X PEC T T H E U N E X PEC T ED

We wanted to create something that encouraged people to want to know more and to find out about the people involved and their conditions. We built a ‘Rare room’ in our studio and each scene was created around the individual and their condition. If you look carefully there are different elements which relate to the rare disease included within the images, each carefully chosen and curated to encourage curiosity. CERIDWEN HUGHES

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VISIT THE EXHIBITION ONLINE

In September 2022 we will officially launch Days of Rare, a photographic exhibition that is supported by film, audio and written narratives. It has been created to inspire us to look more deeply into a life lived with a rare disease. Each image is carefully designed to include unique elements that relate to the rare disease and its impact on the lives of those who have the condition. The videos, podcasts and written accounts allow us to delve deeper into the images, and to understand the daily reality of those living with some of the world’s rarest conditions. Our innovative and immersive exhibition is being launched at the Connect in Pharma exhibition in Geneva, followed by the online exhbition and additional 'in person' exhibitions.


GALLERY SPOTLIGHT

Tony Esmond Alkaptonuria (AKU) In July 2011, at the age of 53, Tony was diagnosed with Alkaptonuria, also known as Black Bone Disease. Living with AKU has been a challenge at times for Tony. Over the years his symptoms got significantly worse making it difficult to cope, both at work and at home. The main symptoms he had to contend with were pain, increasing mobility issues, lifting issues, difficulty breathing and extreme exhaustion. A newly available medication has made a marked difference in Tony’s life, finally allowing him to do things once more that he had feared he might never be able to do again. “I think it is important for people to know they can fight for things, and what this can do for them and other AKU patients.”

Bonnie Taylor Haemophilia A Severe Bonnie lives with Haemophilia A Severe, an extremely rare condition with only approximately 6000 people in the UK affected. It is rarer still in Bonnie’s case as she is a female, and the condition typically affects males. In the main females are generally carriers, or have a milder type of bleeding disorder. To date, Bonnie has not met another female with her condition in the UK. The impact of Bonnie’s condition on her life is huge, but carefully planning her life around her condition allows her to control as much as possible and helps her navigate and balance her family life. “I want to try and live my life the way I want to live it.” www.samebutdifferentcic.org.uk

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GALLERY SPOTLIGHT

Kelsie and Shona Niemann-Pick C disease (NPC) Helen and Callum have three daughters, Shona, Kelsie and Tally. They are a loving, close-knit family whose lives were changed forever when Shona, and then Kelsie received a diagnosis for Niemann-Pick Disease Type C (NPC). Whilst Tally does not have NPC she is a carrier, which has the potential to impact on any children she might one day chose to have. Kelsie was diagnosed when she was 16 years old, a few years after her sister Shona’s diagnosis. For Kelsie her diagnosis is something that she tries to just get on with, and it is not something that she wants to define her, or who she is. Instead she hopes that if she’s not yet displaying some of the devastating symptoms that her sister is affected by that she might not experience the same progression of her NPC. In her Days of Rare story Kelsie explained that for her “it’s just a diagnosis really… A kid with NPC is still just a kid regardless of if they have NPC or not.”

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Shona was diagnosed with NPC just a few months before her 16th birthday. Her parents had first started to notice that Shona was stumbling and falling often when she was about 13, and initially mistook it for teenage clumsiness, but it didn’t go away. They eventually received a diagnosis for Shona after she’d had a series of blood tests at the local hospital. The enormity of what an NPC diagnosis would mean for Shona meant that her parents waited until a few weeks after her birthday to share the diagnosis with her, in part because they also needed time to try to come to terms with the diagnosis and to grieve for Shona’s lost future.


NPUK is dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases and their families, from diagnosis to bereavement and beyond. We provide a specialist care, support and advocacy service, aiming to minimise the burden of living with NPD. This includes practical advice, emotional support and expert information, and the active support of research that will lead to progress in care and treatment.

Niemann-Pick diseases (NPD) are a group of rare inherited Lysosomal Storage Disorders (LSDs) that can affect both children and adults. These can be further divided into two distinct subgroups: acid sphingomyelinase deficiency (ASMD), caused by mutations of the SMPD1 gene, which includes NiemannPick disease types A and B, and NiemannPick disease type C (NPC), a cellular lipid trafficking disorder, caused by NPC1 or NPC2 mutations. Learn more about Niemann-Pick diseases and our work at: NPUK.org

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SPREADING WINGS

Our respite journey

by Annie Dewhurst

Illustration for Rarity Life by Annie Dewhurst

There’s lots I’ve learned along this rare journey of ours. There’s lots I couldn’t be taught, or have imagined would happen. Now I know what really matters in life. And now I know, really know, what tiredness is; the tiredness that comes with being a parent to a child with a rare disease and all the accompanying challenges that can bring. So a couple of years ago I decided it was time to let go a little more. Hannah, my daughter, needed to spread her wings in a safe environment, and I really needed a break.

Hannah was 11 years old then. I was/am her constant in life; her main carer. Whilst I value the time I have with her, I really needed a proper break - one that didn’t entail clock watching. That once I’d dropped her off I wasn’t going to be rushing around, counting the hours down whilst trying to cram everything in that needed to be done before she returned. Because that’s not a break.

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LIVING WITH

I had a fleeting dalliance with ‘mum guilt' and then pulled myself together. After all, if she didn’t have her challenges, she’d probably be having sleepovers, venturing out with friends (as long as it wasn’t getting up to the things that I got up to in my youth!) having trips out with family or whatever. She’s been afforded none of that. So with no other support network to fall back on, it was time to request some regular ‘short break care’ from our local authority. Naturally, I pondered on the stuff like whether or not she’d like it, or would the staff communicate with me, or with Hannah being non-speaking would they still be able to understand her like I can. The list goes on… but, small steps first.

an individual in her own right. Staff were interested in learning about her strengths and needs and were keen to know her likes and dislikes. I’d also scrutinised their OFSTED reports and had a list of questions. I felt reassured, like they just got “it”. By that, I mean the staff were experienced in meeting the individual needs of our often complex poppets, and that her glorious idiosyncrasies wouldn’t come as a surprise and of course they would ensure that stays were fun filled! Hannah was allocated a couple of nights per month. She’d have her own bedroom and a keyworker would complete all the necessary paperwork and co-ordinate everything.

The process was surprisingly easy. An assessment was undertaken, a recommendation made, then it went off to a panel to be agreed upon. The options for short breaks were discussed with us beforehand and we (her dad and I) decided upon a group setting, rather than staying with a family or individual. We were then invited on a tour of a small respite centre than can accommodate children or young people with profound additional needs and got to meet the staff. It was lovely. There was even a sensory room! I felt she would feel ‘at home’ there, and that Hannah would be respected as

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anxious when the time came; despite this being a first. I’d done all I could in preparation and felt comfortable with the decision. Worst case scenario, I was on the end of a phone if needed. And on her first night away I too had a treat and did something I hadn’t done for four years – I had a very nice meal out, which also included alcohol. Huzzah! And Hannah had a ball (without alcohol!). Photographed by Ceridwen Hughes First stop, some introductory tea visits. Hannah loves her food and this was a great way of her spending a couple of hours there, prior to any overnight stays. She and the staff could meet and she could familiarise herself with her new environment. It’s tricky going to new places or doing new things as, given Hannah’s profound disabilities, I can’t explain things to her. I can’t tell her that after school she’ll go for tea there and then I’ll pick her up later. However, her keyworker devised a social story with photographs. She then knew the drill. The tea visits were successful. And then it was time for her first overnight stay. I met with the night staff who’d read my rather *coughs* lengthy “How-To-Look-After-HannahManual” and answered any questions they had. I wasn’t

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At the time of writing this, Hannah’s had 2 overnight stays; so it’s early days. However, she sashays in there like she owns the place and seems decidedly uninterested in bidding me adieu. So, that’s a good sign. Maybe I dragged my heels a little; some people seek respite when their child is much younger. For me however, the time wasn’t right any sooner. Now my girl is being given the opportunity to spread her wings a little more and, come to think of it, so am I.

Photographed by John Bentley, Bentley Studios


LIVING WITH

Short breaks

Annie

The following link contains the guidance issued by the Department of Health & Social Care and is a great starting point to find out more about what should be on offer to you/ your family.

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

Short-breaks-for-carers-of-disabled-children

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

The charity Contact for families with disabled children also have some great information you can access online, link below:

Cornelia de Lange Syndrome – A Shared Journey:

Contact

The (little) Book of Broccoli

Shared-Journey

Little-Book-Broccoli-Doodles-Journey-ebook

Hannah Hannah was diagnosed with Cornelia de Lange Syndrome whilst still a baby. Around 85% of people affected by CdLS have a change on their NiPBL gene, but Hannah is affected by a change on the SMC1A gene which lies on her X Chromosome so she’s rarer than rare. 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.

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Vienna holiday guide Vienna has claimed the coveted 'world's most livable city' title once again in 2022 and it is easy to see why. A city of rich culture, steeped in history and architecture. It is a very accessible city with great public transport links via tram, subway and bus throughout the city. Despite being a city it also boasts over 2000 parks so you are never far from nature. There really is something for everyone here from the worldfamous Viennese Coffee Houses to a cruise along the Danube. There are plenty of exhibitions to see and from November to December the Christmas Markets are a must-visit.

Photograph by Victor Malyushev, Unsplash

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ACCESSIBLE TRAVEL

WHAT TO DO With over one hundred museums and galleries to choose from there really are a huge amount of things for you to do and see in Vienna. From astronomy to zoology, the choice is yours! CRUISE ALONG THE DANUBE An evening sightseeing cruise along the Danube is not to be missed, you can combine it with music and dinner for an unforgettable evening. PRATER PARK Take in Prater Park and everything it has to offer, from eateries to amusements and fairground rides. Enjoy a ride on Vienna’s ferris wheel or a scare-fest on the ghost train. There is also a calendar full of events throughout the year, ending in the ‘Prater Rocks’ Wintermarket where you can warm up with a hot punch and enjoy the live acts performing in the evenings from 7 pm. This runs from mid-November until 8th January.

Photograph by Eric Hong, Unsplash

GUIDED TOURS

MUST SEE There is so much choice here in Vienna it’s difficult to pick just one! Schönbrunn palace is one of Vienna’s top visitor attractions and children and adults will love the amazing zoo there, along with a whole host of things to see and do including a maze and a children’s museum. Another great place to visit is the Hofburg. It was home to the Hapsburgs, the ruling sovereign family from the 13th Century until the end of the monarchy in 1918. Within this beautiful complex with it's sprawling wings and courtyards you can also find the famous Sisi museum, the silver collection and the imperial apartments. www.samebutdifferentcic.org.uk

Take a guided tour of Vienna which offers up great knowledge about Vienna and its culture and history. A wide range of tours are available and are highly recommended. From pastry and dessert food tours to spooky ghost tours there will be a great tour for you to join.

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WHERE TO EAT The food is Austria is varied and delicious. Viennese food is the only food in the world named after the city. There are plenty of places to eat and drink from fine dining restaurants to the totally Viennese Heuriger, which is a Wine Tavern that is unique to Austria. There are many specialities to try from a Schnitzel, Apple strudel, or the world-famous sachertorte a delicious chocolate and apricot cake.

APRON Vienna also has its fair share of fine dining restaurants and one of the best is Apron. A Michelin star restaurant offering a gastronomic journey with its many courses on offer, paired with a great selection of wines. Fine dining at its best.

CAFÉ SACHER VIENNA The best place to sample the atmospheric coffee house alongside the original, much loved, sachertorte is at Café Sacher Vienna. Directly opposite the Vienna opera house in the Sacher hotel, it is accessible and easy to get to. Book ahead to avoid queues!

Photography © Redtenbacher Schweizerhaus

SCHWEIZERHAUS

Photography © Hotel Sacher

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You can not go to Vienna and not have a Wiener schnitzel and there is no shortage of places to enjoy one, we recommend Schweizerhaus. Conveniently located in Prater, it's an ideal venue to enjoy some authentic Viennese cuisine and all that Prater park has to offer. The Karl Kolarik family have been running the business for over one hundred years, so it has retained it's authentic, traditional feel. Particularly famous are the “Original Schweizerhaus Stelze” and the “Original Budweiser Budvar” beer, which is still drawn by hand in three stages the way it was always traditionally done in earlier times.


ACCESSIBLE TRAVEL

Photography So Vienna Hotel © Rafaela Proellot

WHERE TO STAY The city is full of wide-ranging hotels and there will be a perfect place for you to stay. From traditional to modern.

THE STEIGENBERGER HOTEL Situated in the heart of the old city and close to the Hofburg is the Steigenberger Hotel. It mixes traditional and modern well offering a great base to go and explore.

THE SO VIENNA HOTEL The So Vienna hotel, designed by famous French Architect Jean Nouvel, is situated in one of Vienna’s most up and coming, hip districts but is also close to the city centre attractions. The hotel is a masterpiece in modern design.

Photography © MOOONS Hotel

MOOONS VIENNA One of the city's best boutique hotels to try is MOOONS Vienna. It is ideally located near to an underground stop, but also within easy walking distance of the vibrant city centre. The hotel is unique in its design and offers great amenities. It is the perfect place to return to after a busy day sightseeing. www.samebutdifferentcic.org.uk

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Liz O'Riordan photographed by Alex Kilbee

Reshaping the

FUTURE Dr Liz O’Riordan has the unenviable position of having been a breast surgeon who has delivered many, many cancer diagnoses in her career. She has also experienced being a breast cancer patient herself, not once but twice, and is now helping to care for her mother who has recently undergone surgery following her own cancer diagnosis. For most people this would perhaps slow them down. But if anything she is even more determined to share her experiences and use it as an opportunity to help others facing their own cancer journey, as well as breaking down some of the beliefs held by medical practitioners regarding patient care.

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LIVING WITH

Tbc with Liz O’Riordan

Liz photographed by Alex Kilbee

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I always wanted to be a doctor. I LOVED the idea of biology in the human body. DR LIZ O’RIORDAN

Liz’s determination has been a driving factor in her career to date. “I always wanted to be a doctor. I loved the idea of biology in the human body. My dad was a surgeon and a GP, my mum was a nurse and so I grew up surrounded by medicine. They tried to discourage me but I was adamant that I wanted to become a doctor. I studied for five years in medical school and throughout I always knew I wanted to be a surgeon. I was fascinated by the operating table, by what was happening, and I was bored on the wards. It was always about fixing people, helping them and making a difference. Rather than fiddling with drugs and changing the doses, I wanted to get in there. I did my initial five-year training in Cardiff, and I then did three years as a junior doctor and got my first set of exams. I worked incredibly hard, and had to invest thousands of pounds to sit exams, and to jump up each step in the process of becoming a surgeon.” Frustratingly, and despite passing her exams to become a surgeon, she was unable to secure a position because she did not have enough points on her CV, and so she embarked on a PhD in thyroid cancer which took four years.

Liz photographed by Alex Kilbee

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“I was offered a job in East Anglia. So I moved all the way across the country from Cardiff to Suffolk, leaving my friends, my family, everything behind, so it was just me and my two cats looking for accommodation and starting afresh in a new role.” The price she paid for pursuing the career that she loved was very high. She was a single woman trying to climb the ladder in a very male-dominated sector, and as a senior registrar she spent six years moving every year to a new area. Which of course meant that she had no social life, no support system or any opportunities to meet anyone outside work.


LIVING WITH

“I have always been quite cautious and doubted my abilities. I was not one of those surgeons who would read a book and then feel ready to try something new the next day. With breast surgery it's like dressmaking, it's artistry, it's creating, it's reshaping and I knew I could help women. I fell in love with it.” Whilst she loved her work she did find the responsibility of constantly having to deliver cancer diagnoses hard. The relationships she developed with her patients were very important, but the difficulty of the news she had to share meant her role had its downsides too.

A selfie by Liz “There was sexual harassment and there was bullying. It was hard as a woman to assert yourself and to be taken seriously. I got used to patients assuming I was a nurse. And to the sexist banter in theatre. It took me until my thirties to realise I did not have to accept all the negativity. It was really, really hard and I was very lonely. At that time a lot of the men I worked with were married, and there were very few opportunities for a single woman in my position to date. It seemed to be completely fine for male consultants to sleep with junior doctors, but if a female consultant slept with a junior doctor that would have been a scandal. There were times when it did become too much, and I considered quitting surgery and going to work in a supermarket where I'd have a social life, no one would criticize me and I would get my hours back. It was such a difficult time and yet it was a career that I wanted so much.” Liz moved hospitals again, this time she met her future husband, developed a social life and discovered breast surgery.

“It was only when I started working as a consultant, with all the responsibility, that I understood how hard it is to tell someone they have cancer. Most women aren't expecting it, they feel well. I would do that ten times a day. Six before lunch, four or five after lunch, twice a week, every week. You don't get counselling, you don't get coaching, you get a little bit of training, but it's part of the job. You absorb all the negative emotion and there were times when I felt I was being paid to make women cry.”

With breast surgery it's like dressmaking, it's ARTISTRY, it's creating, it's reshaping and I knew I could HELP WOMEN. I fell in love with it."

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Liz photographed by Dermot O'Riordan Time constraints meant that she often found herself delivering a life-changing diagnosis but then having to move on to the next woman, and then the next and the next… There was little time to make sure they had all the information they needed. The mantra used to be ‘don’t google your condition’ yet, with so little information, where else could people turn. Liz acknowledged that as a medic you are not trained in how to deliver this sort of news, or to understand what is needed by the patient. She hoped that she could treat each patient with compassion, and give them the very best medical care but also had to acknowledge that the system does not afford the time needed to meet all of their psychological needs.

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Everything changed for Liz when she herself was diagnosed with breast cancer. “I had a normal mammogram six months previously and then overnight a lump came up. As a breast surgeon, I was not worried. I’d had cysts previously and expected this to be the same. My mammogram was normal and then I went for an ultrasound. The radiologist put the probe on the lump and I turned to look at the screen because I do ultrasounds myself, and I saw cancer. I knew it was cancer. In that split second everything went through my head; the fact I was 40, that I'd need a mastectomy. I'd need chemo, and I had a good idea about my chance of being alive in 10 years - I knew too much. A part of me was in denial, it was like looking at it happening to someone else..."


“...My husband, who is a surgeon, was trying to reassure me because even though he knew it was bad, he just wanted it to all be ok. We both knew every word that was coming. I listened to the consultant talk through all the treatment options, and inside I'm still going, ‘oh my god, oh my god, oh my god.’ All I could think was ‘how much do I tell my parents?’ Because there's so much they don't want to know, they never need to know, but I can't not know it. I've looked after women younger than me who have died with a better cancer prognosis than I had. I'm about to have every treatment that I give my patients. I'm about to find out what it's really like, and realised how little I knew about how to cope with the treatment I give my patients. About how I make decisions, or where I go for answers, or how will I cope with chemo? With my body image and menopause, all that kind of stuff? I had no idea." Up to that point everything Liz had done in her career had been as a surgeon. She admits that she had not even been on a breast cancer website or looked at the information available to those newly diagnosed. Social media played an important role following her diagnosis, as she decided early on to share her cancer journey with her followers, having felt it was better to be honest and open about her journey. Immediately she was flooded with messages from people giving advice, sharing information and providing valuable insights into what they had been through. No matter what time of the day or night it was, she knew that there was always someone she could reach out to.

I didn't know how I was going to feel. I didn't need to pretend, I didn't need to be brave. I could be scared or upset. It was real."

Liz also took part in a photo shoot, something she initially was reluctant to do, but felt was cathartic. “I think for me, it was stripping away the mask. I could just be. I didn't know how I was going to feel. I didn't need to pretend, I didn't need to be brave. I could be scared or upset. It was real. So much of my cancer journey felt almost fake. Fake is the wrong word, but it felt like it wasn't happening to me. I knew too much. It couldn't be happening. It was a way of thinking, that no, this is real and you will need to come to terms with it. Life will be different.”

Liz photographed by Alex Kilbee

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In a way I'm a happier, STRONGER person having had breast cancer twice."

Recently Liz has faced the role of becoming a carer, as her mother has been diagnosed with an extremely rare bone cancer after breaking her arm. Travelling through this journey now as a surgeon, patient and carer she has learned and experienced so much. Not least has been the full realisation that the delivery of a diagnosis can be done better, with more time given, and better understanding of the patient’s needs. “When mum was given her initial diagnosis I just wanted to hug her and to take all her pain away. Being a doctor, I realise I cannot make her better. I have to help her go through this and I have to help her go through this the way she wants to. Not the way I think she should.” As her mother’s cancer is extremely rare, she was referred to one of only five centres that treat this type of cancer. They had to wait for three weeks, knowing the diagnosis, whilst living with a broken arm that cannot be fixed, until they find out what could be done. “I did that very thing I had spent years telling people not to do, I turned to google, but, as it is so rare there was little or no information. To watch someone go through it is horrific. When I was having chemo in some ways I think it was easy for me, but my husband said he felt impotent, leaving me on the sofa looking terrible whilst he had to go to work, and knowing he could not make me better. Now I am in that position with my mum.” When they saw her mother’s orthopaedic surgeon he spent an hour with the family, talking through all of the options, and Liz felt she’d witnessed a masterclass almost, in how this type of news could and should be delivered. She was so moved that she even wrote a card thanking him for making what was a difficult experience for her mum as good as it could be. Liz said she realised how the luxury of time gave the ability to explain patients choices to them.

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LIVING WITH

“When my cancer came back I was forced to retire, I couldn't move my arm because of the side effects of surgery and radiotherapy. The psychological impact was huge. I couldn’t remember the last operation and it was then that I suddenly realized that I’d lost what I’d spent twenty years of my life training to do. I'd lost my purpose. I was a surgeon who helps people, what did I do now?” Reflecting on, and sharing her unique and unusual experience of knowing not only how it feels to deliver a diagnosis, and to receive a diagnosis but also to care for the person getting that diagnosis has helped Liz to gradually find her voice in this new community. By educating people online, by writing books and speaking at conferences she is finding a new, different way to help people. “In a way I'm a happier, stronger person having had breast cancer twice. There are still things that are hard. I live in chronic pain and I still regret that cancer stopped me from becoming a mum. That is always hard, it never goes away. When you're very ‘out there’ on social media, you feel you have to be strong and positive, but it is equally important to show the hard stuff. I'm not superhuman, and yes there will be times I don’t exercise for three months because I have felt bad, and it is important to show that too.”

FIND OUT MORE Liz is working on documenting her journey, and you can read her full story when she releases her autobiography next summer. Click on the links below to find out more. •

Visit Liz' website & blog or pre-order her memoir

Liz photographed by Alex Kilbee www.samebutdifferentcic.org.uk

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CREATIVE LIVES Ben creating his artwork photographed by Diana Weidmann, dianaweidmann.com ‘Rock n Roll’ painting by Ben

Through a CHILD’S EYES Looking back, mostly the last 25 years, I was the typical selfish guy looking after my career. Family then wasn’t really my highest priority. We had a good life. We had lived in Dubai, in China, travelling a lot, working a lot, and enjoying life. Then Ben came along.” BERND ROSENBICHLER

In the early days, the family did not suspect anything was wrong and Bernd continued his hard-working lifestyle. Slowly they realised there was an issue with Ben and it took four years to get a diagnosis of Alström syndrome. The inability to do anything about his son's diagnosis and the overwhelming feeling of helplessness started a shift in Bernd’s approach to life. “You are so helpless and we found ourselves just waiting and hoping that things would not get worse. At the same time, I was watching a little boy growing up, who despite his difficulties, seemed to be the happiest person on earth. He said to me ‘Daddy, we are the luckiest people on Earth, I never want to grow up because I have the happiest childhood’. He is always smiling. He loves people. He is happy when he goes to bed and when he gets up in the morning."

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We tend to always see the dark side of the moon and then you see a little boy who shows you every day to appreciate life. To enjoy it and to do so even with his limited capabilities. He has never once complained.” ‘Gold’ painting by Ben

One of the ways in which the syndrome affects Ben is that he has very little sight. The day Ben received his stick to help him navigate the outside world was a difficult one for Ben’s parents and yet, as with everything else in his life, Ben took it in his stride and found joy in it. “He opened the box and said ‘Daddy, look what I have, it is like a sword. See what I can do!’ I was like wow, he’s showing us how to behave and how we should not think about the negatives but to be proud and to appreciate it. It was the same with his hearing aid and so many other situations.” Slowly there was a shift in Bernd’s attitude and he started questioning what he was doing and reassessing his life. It was at this point he walked away from a high-flying career with the determination that whatever he did had to be positive.

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It is important for the family that people see Ben’s art for what it is, and the art comes first and foremost. It is not about pity or a child who is suffering. They want people to look at the pictures and create their own interpretation of what they are seeing positively. When Bernd was trying to work out what he wanted to do he realised that it was important to create awareness, particularly as there are only around 20 people in the whole of Germany with the same condition. Whilst exploring how best to do this he considered what he had to offer and it was at that point he realised the importance of sharing their own experiences and the positive attitude that Ben has regardless of the impact of his condition. It was from here that the idea to display Ben’s art was formed.


He ran a Kickstarter campaign and started developing the website. It was an opportunity for Ben to show the world that people’s perceptions of what is right or wrong should be challenged. Ben has very limited sight, with only around 5% vision and he has never been able to see colour, yet his images are filled with joy. He paints how he sees the world. As a family, it is important for them to fill Ben’s life with positivity and for him to know that he can achieve anything he wants to. One day they were listening to music by Andrea Bocelli and Bernd explained to Ben that he was blind. It was such an important moment for Ben to learn that someone could achieve so much and not be held back by their disability. Bernd reached out to Andrea Bocelli and told him about Ben. They were fortunate to be invited to meet him and listen to him perform. During that meeting, Ben presented him with a letter he had written to him in brail and they talked about it together. At the end of their chat, he told Ben that he could achieve anything he wanted to in life. It was a wonderful opportunity and his words of

We once had a conversation about giraffes, Ben really loves them and I suggested he paints one but he said ‘how can I do it because I don’t see the colours’. I said, who cares? Paint it as you perceive it. It’s your normality, and nobody else can judge if that’s right or wrong. At first, he was totally surprised and said, ‘Really, daddy, is it ok?’

I want to show the world how incredible Ben is, this is why I set up his online gallery to show his art. His paintings are such an expression of who he is. It is important that the world sees Ben for who he is and not as someone suffering from his condition but embracing life.”

www.samebutdifferentcic.org.uk

Ben in action!

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What is Alström syndrome? Alström syndrome is a rare condition that affects numerous body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, and type 2 diabetes (the most common form of diabetes), and short stature. It can also cause serious or lifethreatening medical problems involving the liver, kidneys, bladder, and lungs. The signs and symptoms of Alström syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder.

Daddy, we are the luckiest people on Earth, I never want to grow up because I have the happiest childhood.”

There is little research into the condition and therefore it is hard to predict how the disease will affect Ben in the future. He has little sight, his hearing is down to about 60% and whilst we hope that remains stable, it is an unknown. One of the other difficult aspects of the condition is the need to control his weight and this is particularly difficult as he cannot control his hunger. “We have explained to Ben how important it is for him to take care with how much and what he eats. Fortunately, we knew it would be an issue early enough so we could get him used to healthy eating. He understands that if he feels he needs to eat lots, he can eat as much as he wants of salads and similar. Of course, we want him to have as normal a childhood as possible and so at birthday parties he can have sweets and other treats. It really is a challenge to help him manage this aspect of the condition.” Art gives so much to Ben and his family. It provides a boost to Ben’s self-esteem whilst bringing a glimpse into his world for those around him. His positivity shines through his images and, as Bernd explained, it is important to first see the art, then the child and lastly his condition. His condition is very much part of his life but it does not define him.

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‘Farbenwelt 2’ painting by Ben See Ben's beautiful art work at https://bens-art.de/


Alström Syndrome UK  (ASUK) is a patient led charity, we provide information, support and advice for individuals affected, their families and carers and professionals.

ASUK have created a global patient registry. This information will build a worldwide picture of Alström Syndrome, improving the knowledge and understanding of Alström Syndrome. We aim to make a real difference to everyone living with Alström now and in the future. Further information about ASUK can be found at www.alstrom.org.uk

Alström Syndrome UK - Making the Impossible, possible!

www.samebutdifferentcic.org.uk

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What we’re INTO Available here

Reviewed by Claire Li, Creative at Same but Different INVISIBLE MANNERS A SHORT FILM BY NIEMANN-PICK UK In today’s society kindness can go a long way. We hear from 90% of people that we meet with a rare condition or disease that they feel judged, experience a lack of understanding from others, and at times are stared at. Sadly, this is often the norm for peoplewith a rare condition. Niemann-Pick UK has worked with industry talents from Billy Boyd (Lord of The Rings) to animator Lingxi Zhang, to raise awareness of rare diseases.

Available here

Reviewed by Ilmarie Braun, Project Manager at Same but Different

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John Lee Taggart, Communications & Campaigns Manager for Niemann-Pick UK, wrote a moving poem that became the basis for a stunning animation entitled Invisible Manners. It highlights the feelings, emotions and challenges people within the Neimann-Pick community feel on a daily basis, while drawing attention towards matters such as isolation. The film aims to teach us about not making assumptions and comes with the important message; “be kind, wear a smile.” We believe that this brilliant short film should be shared far and wide, starting in schools. Highly recommended.

THE SKIES WE’RE UNDER: PARENTING DISABLED CHILDREN PODCAST SERIES WITH RACHEL WRIGHT The Skies We’re Under is a podcast by and for parents of people with complex disabilities created by Rachel Wright. Rachel is the author of 'The Skies I'm Under: The Rain and Shine of parenting a child with complex disabilities' and the founder of Born at the Right Time Limited, a company which aims to #bridgethegap between principles and practice, policy and provision. Her fabulous new podcast series was launched in February 2022 and is made up of 21 episodes, hosted by Rachel in partnership with her regular guests Lucy Parr and Sarah Clayton. Each episode is loosely based around one, or several topics, the conversations are relaxed and often end up in unexpected, and funny places. Whilst the series deals with some really difficult themes I found myself laughing as often as I cried. Most importantly, through listening to these strong and relatable women sharing their own experiences, I found echoes of my own life, which made me feel validated and heard. Often in the rare disease world, or as the parents of disabled children, our experiences are different to those of our friends and family, it is easy to feel alone, to feel isolated; so to listen to others talk about lives we can not only imagine but are also living is hugely powerful. A must listen!


CULTURE

What we’re READING DAY BY DAY: EMOTIONAL WELLBEING IN PARENTS OF DISABLED CHILDREN JOANNA GRIFFIN Joanna Griffin is a Charted Counselling Psychologist, but more importantly she is the parent of a disabled child. Her brilliant book Day by Day is written using the knowladge and experiences gained over the years from both her own parenting experiences and from her education work, and her continued research into caring for children with disabilities. Day by Day offers simple, down to earth advice and looks in depth at seven areas that can help support parent carer wellbeing, offering tips and strategies throughout. As a parent carer life can often feel overwhelming, and the many and varied challenges that arise mean that all to often parent carers are forced to neglect their own emotional and physical needs. When coupled with social care and public healthcare systems that have both been cut to breaking point, resulting in increased caring burdens for many families, it is ever more crucial that we look after and try to maintain our own mental health. This brilliant book is one tool that you can use to do just that, a way to ‘take active steps to maintain our emotional wellbeing on a daily basis.’

Available here

ook reviews by Ilmarie B Braun, Project Manager at Same but Different

Available from multiple retailers

DRIVING FORWARDS SOPHIE MORGAN When I first saw Driving Forwards promoted I thought I knew what it would be about; a beautiful young girl tragically paralysed in a car crash, but goes on to lead a full, exciting and inspirational life as a TV presenter, which it is, but it is so much more! Sophie is unflinchingly honest, and offers us some true insights into many aspects of her life, and her bumpy journey towards becoming who she is today. It is no secret that society is, by and large, hugely ableist, and Sophie explores how long, and how hard she tried to minimise her new differences, her needs, to make herself easy, manageable, and in many ways invisible. “Within my group, no one seemed to acknowledge my disability. This was something I’d always welcomed and found emboldening. My friends often told me they forgot I was disabled, which I took as a compliment… (but) my disability was part of who I was.” When reflected against how she views herself as a woman a stark discrepancy emerges, because even as a young teen she was not afraid to claim her space in the world as young woman who was strong, independent, wild and fearless. That is what makes this book so utterly compelling, Sophie’s own journey towards re-claiming her place in the world, and her right to be happy as a strong, independent, wild and fearless disabled woman who is absolutely entitled to be seen, to be heard, and to have her needs met.

www.samebutdifferentcic.org.uk

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FACING THE FUTURE

WITH A RARE DISEASE CONTRIBUTED BY SAM ALEXANDRA ROSE

Photograph: Ross Sneddon, Unsplash

Sam Alexandra Rose

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34-year-old Sam is a writer and blogger. Alongside this she is also the head of content for a digital agency and a PhD student. For her PhD she is researching how creative writing can have emotional and mental health benefits for people who are learning to live with the after affects of their cancer diagnosis and treatment. She knows this only too well, as she lives with CMMRD (Constitutional Mismatch Repair Deficiency Syndrome), a rare genetic condition that only one in a million people have. CMMRD increases a person’s risk of getting certain cancers and she is a three times cancer survivor, although each time has changed her life. Living with the constant shadow of cancer and the yearly barrage of tests she needs can be very difficult to deal with, taking a toll on her mental health.


LIVING WITH Two months ago, my partner and I were getting ready for a two-week trip to Florida when I got the annual call from my local hospital’s endoscopy department. “We’re calling to book you in for your gastroscopy and capsule endoscopy. Can you come in next Wednesday?” I couldn’t – that was the day I was heading to the airport. “We’ll have to leave it for now,” the man on the phone said after I explained. That was two months ago and unless I missed a call while I was on holiday, they haven’t called back yet. At the time of writing, I’m going on holiday again next weekend. Friday to Monday, I’ll be in Elveden Forest Center Parcs with my partner. I have promised myself that once we’ve enjoyed that weekend, I will call the hospital and chase not only the gastroscopy and capsule endoscopy appointment, but also the six-monthly appointment with my consultant that has failed to turn up, as well as the post-surgery CT scan, the flexible sigmoidoscopy I’m due, and maybe even the results of the brain MRI I had three months ago.

At least let me enjoy my weekend away first. I have to deal with this condition for my entire life, so for as much as I can, I want to do it on my terms.

It’s really hard to have to chase for something you don’t even want. In fact, the first lockdowns during covid brought some relief because all of my appointments were delayed. For months, I wasn’t called by medical professionals needing to book me in for annual scans. I suppose I should have been worried, but instead I was glad. Two years later I’m waiting on annual tests again, and as a person living with CMMRD who would very much like to not have to deal with a fourth cancer diagnosis, I need to stay on top of getting myself checked. I don’t want to; I have to. But at least let me enjoy my weekend away first. I have to deal with this condition for my entire life, so for as much as I can, I want to do it on my terms.

Sam shared photographs of her holiday memories on trips to Florida & Wales

www.samebutdifferentcic.org.uk

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To understand what constitutional mismatch repair deficiency (CMMRD) is, you first need to know what Lynch syndrome is. Lynch syndrome is a genetic condition that makes it more likely for a person to get certain types of cancer. It’s an inherited condition that affects genes called mismatch repair genes. When cells grow and divide, they sometimes make mistakes, which mismatch repair genes are supposed to correct so that the cells don’t become cancerous. In Lynch syndrome, these genes can be abnormal or have a “mutation” so they don’t work as they should – hence the increased likelihood of cancer developing. Each person has two copies of each gene, with one inherited from each parent. If one parent has Lynch syndrome, the child might inherit their “good” gene or their “bad” gene, and having the “bad” gene means they have Lynch syndrome too. Bowel cancer is the biggest risk for people with Lynch syndrome, but it can also increase the risk of gynaecological, pancreatic, prostate and brain cancer, depending on which specific genes are affected.

There is a one in a million chance of having CMMRD – I am literally one in a million, and at the age of 34, I’m beating all of the odds.

CMMRD then, is basically double Lynch syndrome. It’s what happens when both parents have Lynch syndrome and the child – in this case, me – inherits both faulty genes. My mother has one good copy of the gene and one bad copy, and so does my father. I could have inherited both of their good genes and not have Lynch syndrome at all, like my sister did, or I could have inherited one of their good genes and one of their bad genes and had Lynch syndrome. Instead, I inherited both bad genes and this is called CMMRD. We believe my brother, who died when I was a baby, also had either Lynch syndrome or CMMRD. I’ve consequently had cancer three times – bowel cancer at the age of 22, followed by uterine cancer and duodenal cancer both at the age of 30. Talk about bad luck. But on the other hand, I am also lucky. Most people with CMMRD get cancer before the age of 18, with the average age being just 7.5 years old. There is a one in a million chance of having CMMRD – I am literally one in a million, and at the age of 34, I’m beating all of the odds.

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Imagery courtesy of Sam Alexandra Rose unless stated otherwise


LIVING WITH But the emotional toll of CMMRD is tough. For years I described myself as having Lynch syndrome. Even when I wrote my memoir I didn’t mention CMMRD once. I couldn’t bring myself to look it in the eye – if Lynch syndrome increases a person’s cancer risk greatly, what does CMMRD mean for me? How many more times will I get cancer? Will a brain tumour be next, like my brother had? Because my risk is so great, every year I have a gastroscopy to look in my stomach, a capsule endoscopy for my bowel, and more recently, a brain MRI and a full body scan. I also have a flexible sigmoidoscopy, which is like a colonoscopy, every two years to look at the internal pouch that was formed after my ileostomy reversal. I’ve had my bowel removed and a temporary stoma formed. I’ve had Whipple surgery to remove my duodenum, gall bladder, bile duct and the head of my pancreas. I’ve had a full hysterectomy with my ovaries removed and now I can’t have children. Not only do I fear for the future, but I can also be hit with sadness about everything that has happened already. Sometimes all of this is very quiet background noise in my head. When the time comes for another test or scan, the background noise becomes very loud. But whatever volume it’s at, it never completely goes away.

And then sometimes, it feels like the only excitement that happens, or the only good news, is negative test results. When I’m excited, it’s often not because of the presence of good things, but the absence of bad things. I’ve had a few scares where more tests have been ordered after something has shown up on a scan but turned out to be nothing. I know after a test I will either feel a horrible fear in my stomach, or a wave of relief I can take comfort in for days. Despite dealing with CMMRD and feeling sad about the past and worried about a future littered with medical tests, I’ve done a lot. I’ve travelled a lot. I’m even in the middle of doing a PhD on my condition. Yes, it is scary to plan for the future, but I keep trying to fill up my life with good things and hoping I get to complete all of them.

Written by Sam Alexandra Rose FIND OUT MORE •

Take a look at Sam’s website & blog here

Read Sam's memoir here

It’s hard to think about the future with that background noise going on, but I try to do it anyway. If my partner and I get married, I know there will be appointments to plan it around. They pop up like roadblocks – when I try to visualise the future, it’s a road to whatever good thing we’re looking forward to, and if the event is a few months away, there is probably an obstacle in the form of an appointment first. It’s always a case of waiting for that appointment to be dealt with before I can properly look forward to the event.

www.samebutdifferentcic.org.uk

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HOPE for RARE

Caroline photographed by Julien Herger

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TECHNOLOGY

Caroline Kant is a neurobiologist by training, with degrees in molecular biology, design and product development. Her involvement across many disciplines, from the sciences to the arts, has given her the ability to work in innovative and exciting ways within the world of pharmaceutical research. Having spent six years in leadership roles at the pharmaceutical company Merck Serono life took Caroline in an unexpected direction. “Ten years ago, along with my co-founders Béatrice Greco and Florence Porte-Thomé, we had the opportunity to create EspeRare when we were working for Merck Serono and they had anounced the closure of the Geneva Headquarters." Caroline and her co-founders used the Merck Serono Entrepreneur Partnership Program to explore drug repositioning for rare diseases, and were granted initial funding of €2.8 million. In addition, Merck Serono transferred the rights to Rimeporide to them, a compound that had been initially developed for heart failure and that they believed could be successfully repositioned for treatment for Duchenne Muscular Dystrophy (DMD). Using this incredible opportunity as a starting point the EspeRare Foundation was set up as a not-for-profit organisation in 2013.

Sometimes in LIFE, it's about BEING at the wrong place or the RIGHT place, depending on how YOU look at it at the TIME.”

www.samebutdifferentcic.org.uk

CAROLINE KANT

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Caroline and her team had realised that the traditional commercial drug development model was not the most appropriate for developing, accelerating or prioritizing treatments for rare diseases. “We started thinking about how an alternative business model could allow us to accelerate the development of treatment for rare diseases and put patient organisations at the centre of what we do. This is where we had the opportunity to establish the foundation." Carson was photographed by Ceridwen Hughes for Same but Different's Rare Aware project. Carson has Duchenne Muscular Dystrophy, click on the image to find out more.

Brief summary Rimeporide: Duchenne Muscular Dystrophy (DMD) is a severe genetic paediatric disease that affects 1 in 3,500 boys worldwide. Patients affected by DMD have progressive weakness and loss of muscle function in their early childhood. Rimeporide is a selective NHE-1 inhibitor which could be used to address muscle degeneration and cardiomyopathy in DMD patients. EspeRare have generated compelling non-clinical and clinical data that validates the therapeutic potential of Rimeporide for those with Duchenne, and obtained Orphan Drug designations (Europe & the US). They have a proposed investigational plan ready to enter late clinical development, that aims at an accelerated market approval once a partner and/or funding has been secured.

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They felt there was something missing in terms of how the development of these therapeutic opportunities could be funded, whilst also ensuring that the resources within the pharmaceutical industry were fully applied. Moreover, they identified that there is an important need for cooperation and coordination between the medical experts in rare diseases, the academic researchers and the patient community. "We mobilise philanthropic and public money to give a chance to treatments that are not initially of interest to the traditional pharmecuticals industry. Then we work to make them commercially viable. Our model, centred on patients and accessibility of treatmets is based on close collaboration between the various key stakeholders." By developing infrastructures that span a breadth of interested parties, EspeRare is at the forefront of pioneering a new model of collaborative working within the framework of rare diseases. Working with patient organisations, EspeRare identify and choose which treatment they will seek to develop based on the therapeutic potential it may bring to the rare disease community. They also work to establish the commercial viability of these treatment, because this too is vital to ensure it could reach the stage of being distributed to patients.


TECHNOLOGY

Infographic from EspeRare detailing thier development model Illustration courtesy of the EspeRare Foundation

“We are not the disease or patient group expert. We bring to our partners the drug development expertise in rare diseases." As a not-for-profit, any profits they make are then reinvested into funding new projects in rare diseases and also into providing funding within the patient community. "We try to have a continuum in terms of the alignment between medical experts, the research and the community. The patient community often initially funds the research to develop new treatments but since the drug development processes is so lengthy and costly, there's often a disconnect between giving back to the initial drivers of these innovations."

As a not-for-profit drug developer, we try our best to have a risk sharing approach that basically has as an objective to advance life changing treatments in rare diseases, and to integrate ethical commitment in terms of accessibility to these treatments for patients. For us there is an ethical commitment that when you develop life changing innovations for patient communities, you endeavour to think about down the line. It should be accessible to patients that could benefit from it. I'm not pretending we're resolving the problem of excessive pricing and access of treatment in rare diseases. What we're trying to do is show that there can be alternative models that can become a game changer in driving forward accessibility and life changing treatments for rare diseases.”

www.samebutdifferentcic.org.uk

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The first step towards creating change is often awareness, so a lived personal experience of the impact that rare disease can serve as the driving force behind many of those working within the rare disease community. Caroline’s twentyyear-old daughter Eva lives with a rare form of epilepsy, initally diagnosed aged seven, she finally received a genetic diagnosis at sixteen. “My daughter is my hero, and watching her fight her disability with courage and determination, she inspired me to also have the strength and live up to her courage. With my abilities and know how, I try to make a difference for these patients, and it's really her that gave me the courage try to do something differently.” Through having a child with a disability Caroline feels that she grew, not only as a mother, but as a human being within the world who could create change and hope. Hope for rare.

About the name: Caroline photographed by Julien Herger

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When EspeRare was established the founders chose to create a truly meaningful and evocative name using three different European languages. In French ‘espoir’ means hope, whilst the Spanish version for hope is ‘espe’. In addition ‘esperar’ in Spanish means ‘to wait’, ‘to hold’ and ‘to hope’ which resonate with the lived reality of many within the rare disease world. Waiting for answers, holding their rare, hoping for an easier tomorrow. In replacing the ‘rar’ with the English ‘rare’ a literal translation of the name would be ‘Hope for Rare,’ which reflects the vision and mission of the foundation.


TECHNOLOGY

Putting patients at the centre, Connect in Pharma will bring together the key players in pharmaceutical and biopharmaceutical production in the heart of Europe’s pharma industry at their inaugural conference in Geneva in September 2022. The event will also host the premier of Same but Different’s latest photography exhibition, Days of Rare which features photos and video interviews with individuals who are affected by rare diseases. Connect in Pharma will also donate 5 Swiss francs per visitor to EspeRare Foundation, a notfor-profit organisation that identifies, develops and promotes access to life-changing treatments and technologies for patients affected by rare diseases.

We talked to Caroline Kant, Executive Director of EspeRare about this exciting partnership;

“Our expertise is not about visually translating what we do, and we want to build awareness about rare disease and we really connected to the artistic sensitivity in your work. You bring the beauty and awareness around rare diseases. It's not only about suffering, it’s about strengths, and the beauty in the difference.”

As a not-for-profit biotech, we identify, develop and promote the access to lifechanging therapies for patients affected by rare diseases

Patients are at the core of advancing our treatments

Leaving no one behind

for rare diseases

Our unique collaborative model multiplies the impact of philanthropic investments and pharmaceutical knowhow to address the unmet needs of millions of patients with rare diseases

www.samebutdifferentcic.org.uk

EspeRare foundation Campus Biotech Innovation Park Avenue de Sécheron 15 1202 Geneva – Switzerland Email: foundation@esperare.org Website: www.esperare.org

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Photograph by Markus Spiske, Unsplash

SEEDS OF HOPE After the pandemic many of us have a renewed appreciation for our outdoor spaces. Studies by the RHS have shown the benefits for our mental and physical health that our gardens can bring. Professor Alistair Griffiths, Director of Science and Collections at the RHS says; ‘There are very few, if any, other activities that can achieve all of the things that gardening can – in particular the measurable impact on active lifestyles, mental wellbeing, and social interaction. Gardening helps us keep fit and connect with others, to enjoy and be part of nature, and to revel in colour, wildlife and beauty’. The combination of being outdoors, engaging with nature and getting your hands dirty improves your wellbeing so much so that gardening is often being prescribed by GPs to compliment medicine. With autumn now nearly upon us now is the perfect time to start!

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What would I like to grow?

Think about the type of growing project that would add most to your life, if it’s veg how about trying to grow the veg you buy the most when you do your food shop. There really is nothing better than eating your own home grown veg and sharing it with friends and family. Maybe you’d like to sow some herbs like basil for fresh leaves to add to pasta dishes, or perhaps you’re bored of supermarket salad leaves - growing your own would mean you could enjoy more variety and pick it fresh. If it’s flowers you’d like to try, perhaps start with a couple of varieties of annuals for cutting to brighten up your living space. It can be tempting to try and grow lots of different things at once but focusing in on just a couple sowing projects often means your attention isn’t spread too thinly.

To plant a garden is to believe in tomorrow AUDREY HEPBURN


HEALTH & WELLBEING

What have got that I could grow in?

Don’t get put off by thinking you need raised beds or loads of space, you really don’t. To start seedlings off, cardboard loo rolls are brilliant, they just need filling with soil and a seed in each. They’re great because when it comes to transferring your young plants to a larger container you don’t even have to take them out of the cardboard roll as it will break down into the surrounding soil. Containers work great, pretty much anything that has enough depth for soil and as long as a few holes for drainage will do the trick. Considering the height of containers will make it easier to keep an eye on your plants.

What do I need to get going? Photographs by Jonathan Kemper, Unsplash

Find a bright windowsill in your home, this will be a great place to start your seedlings off. You’ll need some peat free compost and your chosen seeds. A pair of gardening gloves are good to start with to protect your hands and investing in a couple of good hand tools will help. The Easy Grip range of ergonomically designed gardening tools are a great for comfort and will put less strain on your hands and wrists.

Photographs by Neslihan Gunaydin, Unsplash

FIND OUT MORE: •

Visit the RHS site for tips and advice

www.samebutdifferentcic.org.uk

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RARE FUTURE

Photograph by Pixabay

As a Wales based orgnisation, Same but Different welcome the Welsh Rare Disease Implementation Plan which was released in June 2022. It aims to improve rare disease awareness, diagnosis and health care for patients over the next four years. Working with Senedd, NHS, rare disease groups and patients, the WRDIP is about making diagnosis and care for rare diseases a priority.

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There are four key areas in the plan: 1. Faster diagnosis of rare conditions 2. Increased awareness of rare conditions among health care professionals 3. Better coordination of care 4. Improved access to treatment, specialist care and medicines. The four-step plan will work together to ensure better outcomes for rare disease patients and the community as a whole. The four steps are connected,work together, each one helping the next.


RARE NAVIGATOR Firstly, the plan aims to shorten the time it takes to get a diagnosis. This is a crucial issue in getting patients the right treatment plan in place. To enable this more testing is needed, especially whole-genome sequencing. The faster diagnosis makes a huge difference to the lives of people living with rare diseases. Currently, the average time for a rare disease diagnosis is four years, but living without answers, without having proper care in place, or not knowing what the best treatment is leaves many individuals in limbo.

Effective coordination open lines of communication and closer working relationships between all parties that will help ensure treatment, care and medicines become more easily accessible. Better access to treatment and specialist care enables a better outcome for rare disease patients, offering more understanding towards their conditions, in turn, resulting in improved treatment plans and support.

Raising awareness among health care professionals speeds up diagnosis and treatment. It helps with the coordination of care moving forward and helps tie rare disease groups, patients and healthcare professionals together.

READ THE REPORT

For over 7 years Same but Different has been working tirelessly to raise awareness of the impact of rare disease in the wider community as well as with healthcare providers. We also launched the Rare Navigator service that supports individuals and families affected by rare disease throughout their whole rare disease journey. Working with partners we look forward to assisting in any way we can to help the implementation plan achieve its aims, particularly in relation to awareness and care coordination. To find out more about our Rare Navigator service: CONTACT enquiries@samebutdifferentcic.org.uk

VIST THE RARE NAVIGATOR WEBPAGE

www.samebutdifferentcic.org.uk

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HOPE for HASTI

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with Chris Brannigan & Hengameh Delfaninejad

Photograph by Danie Franco, Unsplash


HEALTH

Hengameh and Chris met in Dubai twenty years ago. In those easy early days they

could never have imagined the plan life had for them. After relocating to Chris’s home town of Belfast, and shortly after he’d joined the army, they had their first son, followed two years later by another. Finally, they welcomed a much longed for daughter into their home. They called her Hasti, a beautiful hope filled name, which means ‘existence’ in Persian. When Hasti was born in December 2011, her parents intuitively felt that something wasn't quite right. Hengameh explains, “She was a bit jittery; she had mottled skin and was smaller than anticipated. There were a few other surprises too but we didn't see anything serious. I was looking at her thinking something is wrong but she’s your child and so you also think no, she is perfect.” “Her milestones all came late, she didn't walk until she was two years of age, and she didn't say anything at all until the age of five. Potty training also took a long time and school lessons seemed to take much longer to sink in than they had with our two boys.”

Photographs supplied by family

www.samebutdifferentcic.org.uk

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After Hasti was eventually diagnosed with Cornelia de Lange Syndrome (CdLS) Chris and Hengameh were left reeling. CdLS “comes with a lot of recognizable phenotypes, that any doctor who had training will pick up on straight away but that didn't happen, because none of the doctors we saw, had any familiarity with CdLS.”

\

As with many rare conditions finally receiving a confirmed diagnosis took six years, they had signed her up to the 100,000 Genomes Project and the Diagnosing Developmental Delay Project. One day Chris attended what he thought would be a routine geneticist’s appointment but “then she dropped the bomb… your child has CdLS! And that's it, you know, they gave me some brochures and that was it. I was alone because I didn't know this was going to happen.”

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Throughout the difficult times their drive and determination to help their daughter has underpinned their daily lives, with both parents tirelessly seeking answers. It was through their efforts that she was eventually diagnosed and so it was perhaps no surprise that their focus subsequently turned to researching possible cures, or interventions that might improve their daughter’s prognosis. Through this research they became aware of the difference that gene therapy had made to Spinal Muscular Dystrophy (SMA) patients, and they started looking into a similar treatment for CdLS. After attending a rare disease conference Hengameh questioned the scientists in the room, asking why more research was not being done when there appeared to be early signs that certain treatments could help. “One scientist had lunch with me and said, ‘you know, it will come, not for your child, but it will come,’ and I thought it must happen for my child, I will fight for it.”


HEALTH

What is CdLS? Cornelia de Lange Syndrome (CdLS) is a genetic disorder that is present from birth, and is typically not an inherited condition. It is usually due to an acquired change, or mutation in one of seven important developmental genes at or shortly after conception. CdLS causes a broad range of potential physical, cognitive and medical challenges and it is now known as the CdLS spectrum disorder. The signs of CdLS may be obvious from birth, or even in utero but may equally not be diagnosed until the child is older when it is milder. The occurrence of CdLS is estimated to be 1 in 10,000 live births, but some instances could remain undiagnosed as the outcomes are so variable. Most typically CdLS growth, the skeletal system and causes delayed development, intellectual disability or learning disabilities; behavioural issues with ADHD, anxiety or autistic features. It can also affect the internal body organs including the GI, cardiac, genitourinary and neurologic body systems.

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“Anywhere they had successfully undertaken a gene therapy program, we reached out. We sent so many emails and read every paper on gene therapy for rare diseases. Not everybody came back to us but some invested significant amounts of time into our enquiries. No one said to us, ‘you're barking up the wrong tree,’ they all came back and said, ‘give it a shot.’ It will cost a lot of money, it will take time, and there can be obstacles that are impossible to foresee but it's possible and you can only hit the target if you try.” And so the charity Hope for Hasti was born. Setting up their parent-led charity gave them the opportunity to channel and focus their aim to help not only their daughter, but other CdLS children, through much needed research. They started with a GoFundMe page, and using the power of social media and their existing networks they set out to meet their initial target of 2.5million pounds. They started strong – but then covid-19 struck and everything ground to a halt. “We started to panic, we had bills starting to come in, thousands of pounds worth of invoices. We thought lockdown would end quickly and agreed that at that point we would have to start fundraising immediately!”

Photo by Will Gonzalez on Unsplash

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They questioned what they could do that would really make a difference and what sort of challenge could they try undertake that would truly

capture people's imagination. After considering and rejecting lots of ideas Chris decided he would set out to walk from Land’s End to Edinburgh Castle. Barefoot! They hoped that this crazy challenge would help draw attention towards his cause. Likening it to doing a marathon every day, Chris took 35 days to complete his walk of over 700 miles. His feet were often injured, and it was hard going but despite the pain and suffering he finished his task. “Initially it was just me, I had a tent, a sleeping bag, some food, water, and a change of clothes. I hadn’t told anyone about this, I just made a video and Hengameh shared it on social media.” Fortunately, the media picked up the story, starting with BBC Radio Cornwall, and it snowballed from there. They asked people to offer places for him to pitch his tent, and some even joined him barefooted in his walk. Chris says now that he is not sure he would have completed it without them. “I said at the end of that walk I would never do it again because I was so badly injured. Then last year I ended up doing another barefoot walk. I think towards our fundraising target, we're probably halfway there.” The walks and media attention have helped, but there’s still a great deal of work to do.


HEALTH Both Chris and Hengameh find it frustrating at times that they feel there is no option but for them as a family to try to drive forwards the change they wish to see. That it is them who are striving to fund the research and the trial. “The way it's all set up for rare diseases, it's not fair. It seems the pharmaceutical companies and government think that it’s not worth the investment. At the very least, we as rare communities need to come together a bit more.” They also recognise that a large part of their success is the fact that although they run the charity, they do so on a voluntary basis, so that “the funds we raise can go directly towards research. We don't pay ourselves, we don't pay anybody. We also pay the cost of running the charity, and we have to maintain our jobs to do that. This means we have to work all hours; it puts a lot of pressure on us as a family and there have been so many times that we have been at breaking point.”

wouldn't be able to live with ourselves if we didn’t try. Now, we're two and a half years down the line and we are running a proof of concept for the gene therapy. The results are due before Christmas and we're hopeful that they will tell us we've got a treatment that will work, that will transform the lives of kids like Hasti.”

Hope for Hasti To find out more about Hope for Hast you can find their website here: https://www.hopeforhasti.org/ Or you can follow them on all social media platforms: Facebook - @HopeforHasti Twitter - @brannigan001 Instagram - @hopeforhasti

What they have undertaken is no small task. On top of trying to run a research charity they both have busy jobs and of course their young family to raise. “When we started, we thought about what our chances were. We sat down and had a discussion about whether we were going to do it or not, already living busy lives and now wanting to run a charity. But we always said that we

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Illustration for Rarity Life by Annie Dewhurst

DARE to DREAM With the summer holidays behind us many of us will already be dreaming about our next holiday. Anyone who has travelled with young children will know that sometimes holidays can feel like a bit of a busman's holiday. For those who have a family member with complex needs the idea of travelling can be overwhelming, and it sometimes becomes easier not to dare to dream of visiting far away destinations. Amanda and Jay are proud parents to two beautiful children, eleven year old Jamie and nine year old Jessica. Jessica has a rare genetic condition, STXBP1 and lives with complex epilepsy, limited mobility and learning difficulties. More recently Jamie has been diagnosed with long covid, and is fighting hard to become well again. The Hartley family refuse to stop dreaming, and over the years their family holidays have included Dubai, Tunisia, Lapland and France.

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The Hartley family on a winter holiday


ACCESSIBLE TRAVEL

WE ASKED AMANDA HOW SHE PLANS THEIR TRIPS, AND SHE EXPLAINED THAT FOR HER IT IS A CONSTANTLY EVOLVING PROCESS, AND THAT SHE ALWAYS LEARNS SOMETHING FROM EACH TRIP THEY DO. BELOW SHE SHARES HER TOP TEN TIPS.

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Discuss countries with the family, research the chosen country, area, and hotels/accommodation.

"We start with our finances and look at what we can afford for the holiday, we then set a budget and start exploring what might work within that. I will explore different options with local travel agents, who have a wealth of knowledge and can help us find what we need.” Before they book Amanda also does a lot of local research, often joining local online forums for insider tips. Using an app helps understand the local terrain and flags accessibility issues. As Amanda says, “I don't think you can do too much research before you book."

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^ Amanda & Jessica sightseeing in Paris Make a checklist for all loved ones and their needs.

Consider the individual needs of each member of the family in terms of mobility, medication, safety whilst in transport and food intolerances. Amanda’s top tip is to think about what each person needs for the holiday, and to plan for all eventualities. “We want to give Jamie a childhood, to be able to say I did go to these places, because I don't want him ever looking back at Jessica and thinking that we didn't do something because of her needs. There may be a time where it will come to the stage that we just won't be able to do these things anymore. But for now I feel like my confidence has grown with it, mainly because I do so much research. I’ve got spreadsheets where I plan out what happens if and when we need to be flexible, so I’ll list what we're going to do if for example Jessica has a seizure and needs to stay at the hotel, then we have a plan b for Jamie’s day.”

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Contact accommodation - email is better for a paper trial.

“Once we have decided where to stay, I immediately email the hotel and I give them a list of what we need. For example, I make sure the rooms are accessible, and if they’re not at ground floor then we must have access to a lift. I ask for images of the room so I can see the layout and plan where things will go, we move the bed against the wall and one of us shares with Jessica to keep her safe. We also request a fridge for her medications.” Amanda and Jay also make sure they get to know the hotel staff once they arrive, so that they know Jessica personally and can try to meet her needs. Jay takes the extra step of giving a nice tip to the waiters, as they have found this helps ensure that "they will look after you, and we’ve found for example that once they know what we need for Jessica they make sure that it’s already at our table."

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4

Contact airline and arrange special assistance

5

Contact the local hospital

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Social stories - this is a great resource in helping your anxious child

It’s not always well advertised but every airline has a special assistance programme, and through this you can book the support you need. You provide the information that they need (for example wheelchair dimensions) and apply for a medical bag (which gives an extra 5k luggage for medications). “When booking I try to make sure our needs are taken care of and I always print the emails off so I've got everything to hand to show them what was agreed. Ask if the airline can facilitate a dignified, private changing space on board. This is usually in the hostess trolley bays but ask for a mattress on the floor for hygiene purposes. We ask for seats near the kitchen/bathroom area so Jessica does not have far to go as wheelchairs are not allowed on board. Some airports will let you go in advance and take your child/loved one to familiarise yourselves. You can also view airport layouts online to help you plan."

Jay & Jessica enjoying the beach

USEFUL WEBSITES

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The Arc, Wings for Autism

The Friendship Circle

Autistic Globetrotting

It is always worth checking the location of the local hospital. This can help you plan for distance, time and ease of getting there plus any costs involved like taxi fare etc. You can also check if they have a foreign language translation service if needed.

A social story is a narrative made to illustrate certain situations and problems and how people deal with them. They can help children understand what they might experience. See website links in the boxout.


ACCESSIBLE TRAVEL

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Medications

Check the countries policies on medication and equipment. Some countries have prohibited lists of medications that are banned from the country. These countries will usually have a Ministry of Health that you can contact in advance to ask for approval. Amanda works with their doctors to provide a letter, and takes a copy of all prescriptions, especially for any liquid medications. “When we decided to go to Dubai the first thing I did was research their medication lists, because even codine is prohibited from being taken into Dubai. The list of prohibited medications can be viewed online. I applied to their Ministry of Health for an exemption which you can get with the correct doctor's letters, fit to fly certificates etc.”

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Social media forums

“Social media is an amazing resource, you can join forums and find out a wealth of information for countries, local areas, and hotels. Once you have found a hotel you like, you can usually find a forum for that hotel online. The forums are a great place to ask for advice about staying there with children with special needs or disabilities. I find people are always very helpful especially within regards to children.”

Travel Insurance

“Shop around and contact all the underwriters in advance of taking out a policy. Usually, premiums will increase with declarations of diagnosis. But I think as long as you're open and honest with the underwriter, and you break down what the diagnosis might mean in terms of medical needs, they can decide what cover you need. I always try get a letter from the paediatrician to confirm that although they're not aviation trained, they would allow/recommend the child to fly.” Family holiday photographs featured are courtesy of Amanda Hartley

Jay, Jessica & dolphins!

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Last but not least… have fun

“Travelling abroad with a person who has additional needs is always stressful and can be hard. BUT, the memories, the smiles and the change of scenery make all the hard work truly worth it. For me I want to go and have a bit of sunshine and sand between my toes, and just create those memories with the family.”

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ACCESS TO JOY: WITH KIRSTY HOYLE, CEO OF METABOLIC SUPPORT UK

We met Kirsty Hoyle, the CEO of Metabolic Support UK to talk to her about her journey to becoming a charity leader, and how that now also intersects with her having a child with a rare disease following her youngest son’s recent diagnosis with Hay-wells syndrome. Kirsty Hoyle

At just sixteen years old Kirsty began working as a care assistant in a nearby nursing home which also included a separate provision for people with learning disabilities. Perhaps unexpectedly for someone who was naturally creative, and with a passion for writing and indeed the arts generally, what might have just been one in a succession of early part time jobs instead shaped the course of her professional life. “I hadn’t met many disabled people in my life, and I really enjoyed having the opportunity and the challenge of making everyday life accessible for people for whom it wasn't.” After graduating from Exeter university she worked in a special needs school in London whilst also working on her own theatre and drama projects. It was during this busy period of her early adulthood, whilst adapting to life in the capital, that she really began to become more keenly aware of the widespread inequalities that permeate throughout our society; “I started to see even more clearly, every day, the differences in how society was built and who it was built for.”

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Photograph by Victor Malyushev, Unsplash

Her early experiences working with adults with a learning disability had sparked a desire to change the ways is in which arts and culture were accessed, to try work on ways to “give people access to things they didn't have access to.” Quite simply, it was about creating solutions to ensure that people are not being left out. A job in the Unicorn Theatre as their first Access Manager gave her the opportunity to truly combine her passions for the arts and disability rights, working on new and innovative ways to ensure the theatre became more accessible for disabled people. Having built a model of accessibility for theatres, and introducing the pioneering concept of ‘relaxed performances’ she went on to work with theatres around the world to improve their accessibility. Over the years she has been employed in a number of roles which have combined her creativity with her commitment to advocating for and creating change within the field of disability rights.


METABOLIC SUPPORT Kirsty’s commitment to creating change is rooted in her belief that as someone who has had the privilege of not experiencing many barriers in her life it is her responsibility to try find ways to open up access and opportunities for people that don't, or have not had have them as readily. She is keenly aware that there is a delicate balance to be negotiated between being the change you might wish to see, and actually continuing the systematic top down, ableist, and ultimately disempowering way in which society has been constructed. “For me there were two things, arts and disability. But I'm a non-disabled person.” In the late 1960’s the phrase ‘the personal is political’ became well known, having been widely used by the activists of the secondwave feminism that brought feminist issues into the political and public arena in a new way, challenging and changing the traditional roles assigned to men and women. But what about those for whom the political is not in fact personal? If the change you are passionate about is not one that arises from, or is reflected by your own lived experience? “How do nondisabled people intersect with disability spaces” is a question that Kirsty has continually asked herself throughout her career, a career which has closely followed the curve of her interest and passions in life, but not her own lived experience. “As a non-disabled person, it became increasingly clear that it was important that I was making way for disabled people to lead that change, and not leading on these things myself.”

I hadn’t met many disabled people in my life, and I really enjoyed having the opportunity & the challenge of making everyday life accessible for people for whom it wasn't." Kirsty Hoyle An experienced charity leader and strategist, Kirsty brings her knowledge and experience to Metabolic Support UK to build on the charity’s 10-year strategy; to continue to improve the lives of patients and families living with Inherited Metabolic Disorders, whilst leading the way in collaborative, evidence-based patient advocacy. Kirsty is committed to raising awareness of issues that impact on people’s lives through integrating lived experience, public policy and service delivery.

Kirsty and her children. Imagery courtesy of Kirsty Hoyle unless stated otherwise www.samebutdifferentcic.org.uk

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I started to see even more CLEARLY, every day, the DIFFERENCES in how society was BUILT & WHO it was built for.” Who are Metabolic Support UK? Metabolic Support UK is a leading patient organisation for Inherited Metabolic Disorders, supporting thousands of families worldwide that have no other support. Metabolic Support is a world leading advocate in the field, providing support to families; signposting to the best experts; raising awareness amongst the medical, healthcare, social care and teaching professions; and funding research for treatments and ultimately cures.

Kirsty realised that whilst her professional, and indeed life experience might have an important part to play, it would be the professional skills coupled with real lived experience that would be crucial to the continued development of these campaigns and projects. This understanding, and indeed commitment to meanigful change, led her to work on a succesion plan to transition her leadership role to a disabled leader in her previous post. In February of 2021 life took an unexpected turn. A single mum of two boys, who was working in an exciting and demanding role as the CEO at Transport for All, Kirsty was used to life being hectic. Once the lockdown restrictions eased she took her youngest son, William (Wills), to the dentist because he didn’t have many teeth. As soon as the dentist looked in his mouth he commented that he had “severe hypodontia, the most severe case he’d ever seen,” before calling in a colleague who immediately, and without any preamble, simply stated that “he’s got EDs, I can tell straightaway." The unexpected diagnosis, and the way in which it was delivered was a shock. “I would say they took a bit of a punt considering I could have been someone who had a completely different response to them. The one thing that I had to process afterwards was someone saying ‘you know, I can tell by looking at your child that they've got a genetic condition. It's a bit of a moment. As soon as I got back to the car I got my phone out and, like every other parent, I sat there panicking and googling. Mad googling. I found the Ectodermal Dysplasia Society and it was brilliant, and honestly it makes me emotional now just thinking about how it felt, to see smiling faces of people saying ‘we've got this and it's all alright,’ and information and a Facebook group that I could join immediately.” Through reaching out to other families online Kirsty found herself connecting with, and having deeply meaningful interactions with other parents, finding comfort and hope through these online communities. After joining the ED Society

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METABOLIC SUPPORT Facebook group she arranged to have a virtual coffee with another mum the next day on zoom. The call would go on to last for almost two hours, and she recalls that when she first went on it was all too much, the shock of the sudden diagnosis, and what it might mean. “I couldn't speak… and I just burst into tears. She was so lovely to me. And it changed things for me, that two hours with this woman, and without the ED Society setting up a Facebook group and creating that community I wouldn't have had that moment. That's why I feel so privileged, that that's my job now.” A few months after her son’s rare diagnosis Kirsty was appointed as the new CEO of Metabolic Support UK. Whilst her son’s condition is not metabolic, this move reflected her continued interest in those communities that are in some way disadvantaged, left out, or not catered for within society. “What I was always interested in is a group of people who for some reason are left out, or not getting what they need, whether that be people with diabetes, whether it be veterans… How do we remove barriers, and create opportunities. And the fundamental element of that is also making sure that people understand that they are the ones who create disabling barriers, not the person who has an impairment, whatever that might be.” In joining the rare disease community Kirsty is able to bring elements of the disability rights based model into the rare disease space. But whilst William’s diagnosis might have changed the trajectory of Kirsty’s life, and despite now being the parent of a child with a rare condition she is clear that this does not give her the right to claim this as her lived experience. As his parent she absolutely has a crucial role to play in helping him to learn how best to manage, and to live with his condition. But as she explains "As a non-disabled person I live in spaces that cater for my needs; if I am exhausted I can choose to 'shut the door' on work, or fighting for William's rights but others cannot. So yes, I do understand what it's like to have a lived experience now of the constant battle to get what you need in the way you need it.

Images shared from the Metabolic Support UK online community

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But no, I still don't understand what it's like to be the person.” The year that Kirsty joined Metabolic Support UK was also the year in which the charity turned forty years old. Like many patient led organisations MSUK was set up by Peter and Lesley Green because of their experiences with their daughter Jen, who had a rare condition. The aim of MSUK is best captured using their own words; ‘Your rare condition. Our common fight’, and over the years the charity has become an innovative leader within the field, serving over 500 different inherited metabolic disorders (IMDs), and 20,000 people living with IMDs. As she leads the charity into its next phase, Kirsty and the trustee board are committed to bringing together the knowledge and experiences gained previously, to try and reframe the tone and the conversations around IMDs, moving away from a medical model to a social one. MSUK hope that “the changing policy landscape brings opportunities for the genuine advancement of rare patients’ needs.” (see their 40th Anniversary Report on their website). As with her work within the field of disability rights she is passionate about bringing focus to, and challenging how both the government and society builds and delivers public services, and how people continue to be left out. As a field which is at best often underfunded, at worst largely ignored, the rare disease space can suffer from a lack of innovation, and so the charity is committed to continue to bringing new voices and new perspectives in, and to keep on innovating, and driving forwards change. Kirsty is clear however that this will be no small task, with “huge tectonic shifts needed in order to increase the amount of treatments available for people with rare diseases, people with inherited metabolic disorders.” Over the years individual inherited metabolic disorders have established patient organization groups of their own, so MSUK increasingly functions as the direct patient advocacy organization for very rare metabolic conditions with very small patient populations. They also work closely with other established patient organizations to supplement and support their work, using a joint approach to look at, and

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Inherited metabolic conditions Inherited metabolic disorders refer to different types of medical conditions that are caused by genetic defects (most commonly inherited from both parents) that affect, and interfere with the body’s metabolism. There are hundreds of inherited metabolic disorders, caused by different genetic defects, and with a wide range of symptoms and prognoses. For helpful guide visit their website

challenge the whole ecosystem of rare disease and the policies and framework upon which they sit. “If you're fighting for a particular treatment for a condition, and you are supporting that community, you don't necessarily have the time scale, or will to be able to look into the wider policy frameworks, and economic barriers to what you're trying to achieve. So increasingly, we are picking up projects that support IMD organizations, rather than working directly in that disease area.” Importantly however MSUK also works in ways which traditionally might not have been thought about in the context of the rare disease agenda. An example of this is a recent small project focused on travel insurance. Those with rare conditions can struggle to find appropriate travel insurance that is not prohibitive in terms of costs or exclusions, and so they worked with the organisation which sets the criteria that all travel insurance agencies use, to add more IMDs to the list. The reasoning behind projects like this is simple; “access to treatment is important. But so is access to joy.” MSUK is passionate about trying to help people within the IMDs communities understand the wider context of their rights, intersecting with disability rights and to empower people to understand more about


METABOLIC SUPPORT

how the healthcare sector works, so that they can better access what they need. As well as their commitment to research they want to focus on more immediate possibilities for change, for an easier, more accessible and fairer today, and a better tomorrow. MUSK “want to widen our focus to make sure we're looking at access to arts, access to day to day health care, access to mental health support services… so whilst we really support people getting access to the treatments that they need, we also feel that there needs to be an extra emphasis on what can happen today to

Access to treatment is important. But so is access to joy.'


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YOUNG VOICE

Finding Your

STRENGTH

“I decided to spend my life doing what I love and not making myself unnecessarily stressed. After you've been through something so traumatic, and life-changing, that a lot of people are lucky enough never to experience. I think it does make you re-evaluate what's important. I'm so happy, just living my life the way I do, and making sure I enjoy my life. That's the main thing for me. I think that's a really powerful message to send, especially to people who live within the rare disease world who have many uncertainties hanging over their head, you know, to enjoy and take it for what it is and focus on the positives.” Olivia Goddard is 21 years old, and lives in Surrey with her family, Mum Clare, Dad Scott and brother Zac. Scott, Olivia and Zac all have hereditary Neurofibromastosis type 2 (NF2), and although it is very much a part of the fabric of their everyday lives as a family they are positive about the future, they work on enjoying life, and being present in the now.

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As NF2 is typically hereditary both Olivia and Zac were regularly monitored by specialists throughout their childhoods. DR LIZ O’RIORDAN

As the years passed Olivia thrived, and blossomed into a fun loving, happy and busy teenager, juggling school, a burgeoning social life and her love of horses. Life was good. At the age of 15 when she was undergoing her regular assessments Olivia asked for an MRI scan, but the specialists were reluctant as she appeared so well, and there was no obvious need for the procedure. “I had to fight for my MRI because they bring you in, and then they check you over, testing your reflexes and the different pressure points on your body to see how you react. They look into your eyes, your ears, and I was coming up fine. I had no headaches." "My hearing was fine. My vision was fine. You know, everything was fine. And so they actually said to me ‘you don't need an MRI’… but me being a stroppy 15 year old girl, I wanted my MRI, and I got my MRI.”

Photo by Kenny Webster on Unsplash

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Unexpectedly, the MRI brain scan showed that in fact Olivia had been living with four developing brain tumours, an ependymoma Grade 2++ that measured approx. 8cm x 5cm (the size of a large orange), an optic nerve meningioma and two bilateral vestibular schwanommas. Typically ependymomas grow on the spine, but hers was in her head. Her brain had moved to the left, adapting to and accommodating the tumour which was on the right side. Quite remarkably she was, at the time of the MRI, still functioning normally, but the tumour had developed to the point where it was presenting a danger to her life.


LIVING WITH

“Within a week of finding out the results I was in hospital having surgery to get it (the tumour) removed, there could have been many life changing threats with that operation because it was in the centre of my head, surrounding my spinal cord. It's amazing that I am the way I am now because my life could have been so different after the operation. Luckily, everything was fine, they got all of it out and, touch wood, it hasn't grown back.” Showing the same determination that she’d needed to get the MRI, Olivia’s recovery exceeded all expectations, and she walked out of hospital just over three days later and continued to make an amazing recovery.

Reflecting back on that time now she remembers that despite the enormity of the situation it just didn’t feel very real. That her initial thoughts were simply that as the brain surgery was needed it was best to just get on with it, to get it over and done with. It wasn’t really until the pre-op tests were being conducted that she began to understand how life-changing the surgery might be. There were multiple possible outcomes and different things could go wrong,potentially leaving her with some of the disabilities that many living with NF2 are left with post-surgery for particularly complex tumours. “It was a very surreal experience. After that operation I was on top of the world, you know, thinking ‘I've just smashed brain surgery.’ I actually had the mentality when I was in hospital that I wanted to be the fastest person to recover from brain surgery. That's what I had in my head because I didn't think it was a big deal at the time. I just wanted to be the fastest person, and so I was out within four days.”

Olivia had been living with four developing brain tumours, an ependymoma Grade 2++ that measured approx. 8cm x 5cm (the size of a large orange).

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Olivia recovered incredibly well and life returned to normal but with monthly scans.

A year later it was determined that the optic nerve tumour had grown to the point that it needed to be removed, and so she once again had to undergo high risk surgery. This time around the surgery hit her hard, not just physically but mentally and emotionally too. She struggled with the knowledge that once again she had no real choice. Although this tumour was much smaller at the time the surgeons explained that because it was so close to her optic nerve it needed removing urgently, before it grew more, as it would become harder to get the tumour out without leaving her blind. At the time she was 16 and starting her GCSE’s and desperately did not want to have surgery again. If it was left longer and grew it would engulf the optic nerve anyway, leaving her blind in that eye.

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“It was a massive kick in the stomach for me because I thought I had done my bit, I’d had brain surgery once that's it now. Literally less than a year later they said that I had to have that one out as well, I'd had a very different mentality for that first operation. I didn't have the same mindset at all going into the second one, because I didn't think I'd have to do it again.” Unfortunately, she lost sight in her right eye during this surgery as the optic nerve was cut. This time Olivia really struggled with the enormity of what had happened, and with the trauma and difficulties of her recovery.


TEEN VOICE

A very difficult period followed, and within a few days of being discharged she was re-admitted for emergency surgery as CSF fluid (the fluid that protects your brain) was leaking out of her nose. She desperately did not want to have to go back in or to have another operation. She did not want to miss her GCSE’s, her prom, or be anything other than a normal teen living her life. It was only very recently that she felt able to address the PTSD that she suffered from as a result of the trauma of those difficult years.

“There are so many parts to surgery that people don't quite realise happen. When I woke up I couldn't breathe and I couldn't see, I was completely blind. I know now that that's just a side effect of the surgery. I'm convinced that it was harder because of my mentality as I went into the operation because I did not want to, I was not hopeful. I was not positive. I was just doom and gloom. I'm a firm believer that you change how things are by your mentality, and it's just proof for me with those operations. I did not think that the second one was going to go well and I came out of it half blind.”

“I didn't realise because I was so young the effect that it had had on me until last year when I said to mum, ‘I actually need help now.’ I went through a lot, but it doesn’t click in your head as to why you're feeling that way. I had PTSD and I had recurring dreams every night, my dream was actually me being wheeled into the operating theatre.” Looking back at that enormously challenging and traumatic time now, Olivia is clear that the most important thing is realising and emphasising the importance of looking after your mental health. Because your mental health will be key to how you adapt and cope with the challenges NF2 can bring.

www.samebutdifferentcic.org.uk

“For me, it's as much of a mental battle as it is a physical one. As I said, I am so certain that my mentality going into those last two operations had an effect on the outcome.” It is this belief that underpins her commitment to her new role for NF2 Bio Solutions as their Youth Ambassador. She is working on building a supportive online community for young people living with NF2 around the world because she believes firmly that through their shared experiences, and the insights they can offer each other into their shared yet unique rare disease, they can support each other in very meaningful and powerful ways. “I think it will be amazing for everyone's mental health. It will be really inspiring actually, to speak to all these different young people that have been through similar yet different experiences. To see what they've faced, and how they're still carrying on with daily life. I really want to make people recognise that waking up every day and living every day fighting this condition is amazing. I'm really trying to send out the message that I believe that this condition is not a weakness. It's your strength.”

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5 Questions

with Fiona Murphy Fiona is the owner of Bettylicious, a beautiful online store featuring the best vintage styles around, including the most beautiful swimwear. After being diagnosed with ME/ CFS and losing her father, Fiona took her career and life in a different direction to afford herself a better work-life balance, and to channel her love of vintage clothing How did you get your diagnosis? Initially I got shingles in 2006, which gave me stroke-like numbness in my right arm and leg. Later on that year I received a diagnosis of ME/ CFS. I struggled to walk. After many consultations I was also diagnosed with spinal stenosis in 2008. I had lumbar decompression surgery on my L4-L5 vertebrae in January 2009, which has caused ongoing issues with mobility.

Visit Bettylicious

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What inspired you to start Bettylicious?

What support do you have?

After my father’s passing, while I was struggling to work in my corporate position with my disability, I decided to become my own boss. Looking at the choices, I decided to buy a ready-made business, as it was the best option available for me. So, I bought Bettylicious.co.uk. It suits me perfectly and my love of Hollywood glamour and iconic film stars. Swimwear is particularly a passion as swimming is now one of the few sports I can do and vintage costumes are so beautiful and hard to say no to.

Day to day, I don’t have a lot of support in place to help, other than my family, but they live over an hour away. A big issue for me is cooking when I am struggling, having to stand at a stove, lift pans and everything that is involved can be hard. I find the delivery apps that are available today brilliant, they help take so much pressure off at times. I also have some lovely friends now here in Taunton who would help if needed.

How do you switch off and relax? The upside of owning an online business is the flexibility it affords me. If I am having a bad day or I am in pain, I can work from home, I can even work in my pyjamas. On the flip side relaxing and switching off is hard when you are a one-woman business. I do try. I have a little dog and I like to walk her around the field across the road from where I live, sometimes on my crutches. I also love trash TV, something I don’t have to think too hard about, so it’s just entertaining me. I try and unwind with lots of hot bubble baths. Plus I have an addiction to Vinted, shopping for vintage dresses.

I have only lived here for a year, and I love it. I FaceTime my daughter every day, and having that relationship and contact with her is so important to me. But, on the flip side, I also want to offer support to other people like me and I am going to start to do YouTube tutorials in the near future to help other business owners, as many I have met can’t do a ‘standard’ job due to health conditions. It will be called Betty’s Business Basics. My top tip is if you are going to do anything in life do something you are passionate about and do your research into what will fit with you and your lifestyle and health. If you are passionate about something it will drive you forward.”

What is the best thing about Bettylicious? Since starting Bettylicious I have met many wonderful people. It’s such a great pleasure. My life is filled with vintage beauty and great friends and family, so Bettylicious really has changed my life. I know my Dad would be really proud of me. I do love to see my clothes and swimsuits modelled and loved by the people who buy them. I was so proud to see Tully Kearny modelling one of my swimsuits in an article in Rarity Life. I would like to meet her in person, she is very inspiring. I hope that articles like this will highlight the many invisible disabilities out there, and the number of people they actually affect.

Images supplied by Fiona Murphy

www.samebutdifferentcic.org.uk

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Cambridge Rare Disease Network

Bringing The Rare Disease Community Together To Educate The Public At #Rarefest22 FREE to attend, RAREfest22 is an awardwinning festival that is as UNIQUE as the people it champions. On Friday 25 th November the festival launches with an evening of music, dance and talks by the rare community. On Saturday 26 th November the doors open for a daylong festival featuring interactive talks, activities, demos and exhibits, film and art showcasing innovative science, visionary technology and pioneering organisations improving lives and bringing hope to those living with rare conditions.

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For the experts. For the curious. For all ages. For the whole family. For everyone. For FREE. Book your tickets here today for RAREfest in the heart of historic Cambridge Come and explore:


DIRECTORY

Find out more DAYS OF RARE FASHION

TRAVEL

www.boden.co.uk

www.steigenberger.com

www.quizclothing.co.uk

www.so-vienna.com/en/

www.coastfashion.com

www.mooons.com/en/hotel/

THROUGH A CHILDS EYES

www.schweizerhaus.at

www.alstrom.org.uk

www.restaurant-apron.at

www.bens-art.de

www.sacher.com/en/restaurants/cafe-sacher-wien/

WHAT WE’RE INTO - REVIEWS

www.praterwien.com/en/home/

www.npuk.org www.youtube.com/watch?v=A1QmA_HK7e4

www.wien.info/en/sightseeing/sights/imperial/hofburg-vienna www.schoenbrunn.at/en/

www.bornattherighttime.com/the-skies-we-are-under-podcast

HOPE FOR HASTI

www.affinityhub.uk

www.hopeforhasti.org/

www.bio.site/sophielmorgan

SEEDS OF HOPE

DARE TO DREAM

www.rhs.org.uk

www.thearc.org/our-initiatives/travel/

FINDING YOUR STRENGTH

www.friendshipcircle.org

www.nf2biosolutions.org/nf2-biosolutions-uk-europe

www.facebook.com/autisticglobetrotting

FACING THE FUTURE WITH A RARE DISEASE

GALLERY SPOTLIGHT

www.amazon.co.uk/dp/B08T6BTJZ3

www.samebutdifferentcic.org.uk/daysofrare

www.writersam.co.uk

www.sbdcreative.co.uk

ACCESS TO JOY

www.akusociety.org

www.metabolicsupportuk.org/inherited-metabolic-disorder

www.haemophilia.org.uk

CAMBRIDGE RARE DISEASE

www.npuk.org

www.camraredisease.org/rarefest22/

HOPE FOR RARE

SPREADING WINGS

www.connectinpharma.com

www.gov.uk/government/publications/short-breaks-for-carers-ofdisabled-children

www.esperare.org/en

RESHAPING THE FUTURE www.liz.oriordan.co.uk www.unbound.com/books/under-the-knife

RARE NAVIGATOR www.samebutdifferentcic.org.uk/rare-navigator

5 QUESTIONS WITH

www.contact.org.uk/help-for-families/information-advice-services/ social-care/short-breaks www.amazon.co.uk/Cornelia-Lange-Syndrome-SharedJourney/dp/B09MYTK86Z/ref=tmm_pap_swatch_0?_ encoding=UTF8&qid=1639848104&sr=8-1 www.amazon.co.uk/Little-Book-Broccoli-Doodles-Journey-ebook/ dp/B092TMFD87 http://www.cdls.org.uk

www.bettylicious.co.uk

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