Rarity Life Issue 01

R

ARITY

Living your best

A Same but Different Publication

LIFE

EDITORS LETTER

ARITY

Living your best

LIFE

HELLO EVERYONE!

WELCOME TO OUR VERY FIRST ISSUE, Rarity Life is a brand new online publication that offers those affected by rare disease, disability and cancer the opportunity to create content that is truly inclusive, to unify our collective experience and to celebrate and share our differences.

Since my own son, Isaac, was born with a rare disease I have felt like I have lived and breathed rare disease and disability.

It is wonderful to see so much more inclusivity in the press than ever before, but sometimes it feels a bit patronising, and even a bit of tokenism.

Rarity Life is about truly being inclusive.

We have all lived experience of rare disease, disability, cancer and our contributors speak from experience.

You may have come to this magazine through the parent arts organisation, Same but Different, or maybe it is your first introduction to our work, either way thank you for taking the time to read our magazine. Please share far and wide and we welcome your thoughts and ideas for future publications.

Ceridwen Hughes

Same but Different

MEET THE TEAM

Ceridwen Hughes

02

Ilmarie Braun

Katy Parry

Kristian Losztyn

Andrew Pearson

Claire Li

Emily Todd

CONTENTS

This Issue ON THE COVER

10

The Fragility of Beauty with Hannah Harpin

LIVING WITH

04 18 23 72

Days of Rare with Michelle Hill What is Beauty with Hannah Harpin Beauty of Rare with Lucy Root

5 Questions with Meliz Toros

MY LIFE

38 48

STYLE

Dying Matters with Sabrina Jones Against All Odds with Herman Otten

HEALTH

60 62

^ Michelle photographed by Ceridwen Hughes for Same but Different’s Days of Rare project

Rest & Reset Top tips for a restful night In the spotlight with healthcare proffesionals at Alder Hey Hospital

54

CULTURE Adaptive essentials with Uhidden Clothing

ACCESSILE TRAVEL

36

Amsterdam Getaway Places to eat, sleep & play

TECHNOLOGY

66

Persoalised Cacer Treatment with Hans van Snellenberg

www.samebutdifferentcic.org.uk

26 28 33 47

Gallery Spotlight on the digital exhiit Beauty of Rare The Art of Courage with Henry Fraser Journey of Hope short film What We’re Reading Reviewed by the Same but Different team

03

“I feel like I spend half my time trying to prove how well I am, and half my time trying to prove how not well I am”

Michelle Hill photographed

by Ceridwen Hughes for Same but Different’s Days of Rare project

04 00

LIVING WITH

Days of

Rare

As part of our Days of Rare exhibition we spoke to Michelle Hill on living with the condition Myasthenia Gravis, a chronic autoimmune condition that causes muscle weakness and fatigue. She told us about her journey from diagnosis to raising awareness about the disorder.

“My daughter was born in August 2014.

Around 10 weeks after she was born I started getting double vision. I wasn’t overly concerned as it had happened before. However, it got worse and I realised I couldn’t drive. I also noticed that as I was walking more I was really struggling to cross roads and it was increasingly difficult to step up curbs. My sister, who is a physiotherapist, suggested I saw a doctor because she thought that it might be a sign of something more sinister.

I went to the out-of-hours doctors and by this point, my eye was drooping as well so they thought maybe I’d had a stroke.”

After further investigations, including an MRI they were able to rule out a stroke and admitted Michelle to monitor her for a few days. Her condition improved and so she was discharged. Two weeks later her symptoms once again returned and this repeated for several months. The symptoms were not always consistent.

“Maybe I’d be struggling to raise my arms, or for weeks everything tasted stale because my jaw muscles weren’t strong enough to chew the food, or my voice would disappear mid-sentence and I had just really strange sensations.”

www.samebutdifferentcic.org.uk

00 05

What is Myasthenia Gravis?

Myasthenia Gravis (sometimes abbreviated to MG) is a chronic autoimmune condition that causes neuromuscular disorders, primarily characterized by muscle weakness and muscle fatigue. That means it affects the involuntary muscles in the body. These can be anything from the eyes to those we use for breathing, walking and lifting. It is rare, affecting about 15 in every 100,000 people in the UK and although the disorder usually becomes apparent during adulthood, symptom onset may occur at any age. The condition can vary in severity between individuals, and in an individual the symptoms can also fluctuate with relapses and remissions. Myasthenia gravis presents in two main forms, ocular myasthenia gravis and generalised myasthenia gravis.

00 06

LIVING WITH Michelle was fortunate in that the neurologist she saw suspected Myasthenia gravis and referred her to The Walton Centre (the onlyspecialist hospital in the UK dedicated to neurology). The fact her symptoms presented in a textbook manner helped her get a speedy diagnosis.

In order to confirm the diagnosis they used a Tensilon Test. The test involves an injection of tensilon - edrophonium, after which muscle strength is evaluated to determine whether the weakness is caused by myasthenia gravis or not. Additionally they carried out an Electromyography (EMG) is a form of electrodiagnostic testing that is used to study nerve and muscle function).

“Both of these tests proved positive especially when they finally received the blood test results, which took months. I have subsequently heard that many people find it hard to be taken seriously and people often are diagnosed with psychological disorders before they get their diagnosis. It really can be life-limiting and life-threatening and is a difficult disease to understand which is why awareness is so important.

In August 2015, I had a thymectomy, which is a full chest cavity operation where they took out the gland from behind my heart. The gland is usually found in teens and starts to shrink as you grow older. They have found that in a lot of Myasthenia patients it’s still there, or it’s larger than it should be, and that was the case with mine. There was a 30% chance it would work, a 30% chance it would not, and a 30% chance it would get worse. For me the decision was simpler because my ability to do anything at all was really limited.” ^ Michelle photographed

by Ceridwen Hughes for Same but Different’s Days of Rare project

The operation proved to be a huge success for Michelle and despite being wheeled into the hospital in a wheelchair she was able to walk out following the operation.

“It was a huge, huge success. Every day afterward there were improvements in me, doing one extra step, being able to lift something I hadn’t lifted before, or my eye improving. My eye took the longest and it still drops now, but it is opening more and more, and the vision is improving.

You don’t realise how difficult it is to roll over in bed when you’re so weak that the duvet won’t move. Two years later and I am still discovering things that are improving, it gives me hope for the future whereas at one time things looked so bleak.”

www.samebutdifferentcic.org.uk

00 07

LIVING WITH

“It’s been quite a big change for me. My Mum has been my absolute rock! She’s quite ‘stuff and nonsense’ so I never saw her break. She had made the decision to retire long before, but from her last day of work she came to me at the hospital and she’s been with me every single day since. She would do the 8am till 5 pm shift until my husband came home, and then he’d carry me upstairs and then take care of everything else in the early months. I remember trying to feed my daughter and I couldn’t lift the spoon from the bowl to her. I could not coordinate that, and I was just too tired and I think I probably pushed myself right to the edge.

In the first year, I think every emotion goes through your head. ‘Why me?’ definitely came up a few times, but now I just look around and think that everyone is dealing with something. I think we all have our various crosses to bear. So, I don’t really think that way anymore.”

As an invisible condition Michelle believes there is still a lot of misinformation around Myasthenia Gravis even in medical settings; “For an appointment, I might ask for a wheelchair, and they look at me like why what do you need that for? Because they see a perfectly healthy 30 plusyear-old, and that’s not the case. Even with medical professionals, they look at me and say, ‘You look well,’ and I’m like, but you should know better than that. My friend said later on that ‘I didn’t realize how poorly you were until I had to dress you and there was no muscle in your arm. There was nothing. There was no resistance at all.’ It’s hard, to be a mum and try to get on with a normal life. I find it quite difficult to walk for long periods of time, I struggle with stairs and I can’t lift things as well as I could and my double vision can interfere. Because it’s an autoimmune condition it’s mostly treated by suppressing the immune system, so steroids and immunosuppressants. My steroid dose goes up and down all the time. During the early part of the pandemic, I was stuck in the house for 6 months as I was shielding. I need to be out and about at my age and I am a social person. It’s not good for me to be locked up in my house, and those first few months were hard enough.”

You can find out more about Michelle and the Days of Rare project by visiting www.samebutdifferent.org.uk/michelleh

00 08

GENETIC ALLIANCE

Genetic Alliance UK is the national charity working to improve the lives of children, adults and their families affected by all types of genetic, rare & undiagnosed conditions.

Established in 1989, we advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.

Genetic Alliance UK run two long standing projects: – Rare Disease UK, a campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment. Rare Disease UK is the official organiser of Rare Disease Day in the UK. – SWAN UK (syndromes without a name), the only dedicated support network in the UK for families affected by a syndrome without a name – a genetic condition so rare it often remains undiagnosed.

For more information, or to find out about becoming a member, visit the Genetic Alliance UK website: www.geneticalliance.org.uk.

www.samebutdifferentcic.org.uk

09

STYLE

THE OF

FRAGILITY

BEAUTY

With Hannah Harpin

IRIDESCENT details Hannah wears a floral print, embellished midi dress £107 www.coastfashion.com

Hannah photographed by Ceridwen Hughes Make up by Cathryn from Made up by Cathryn

00

STYLE

00

STYLE

vibrant GREENS

Hannah wears a green fine mesh dress with tiered maxi skirt £114 www.coastfashion.com

12

STYLE

00

STYLE

one by one, delicate petals drop to the ground below

SHIMMERING florals Hannah wears a floral sequinned midaxi dress £207 www.coastfashion.com

14

STYLE

00

layer upon LAYER Hannah wears a fine mesh, red dress with tiered maxi skirt £114 www.coastfashion.com

00

STYLE

00

18

STYLE

What is beauty?

Beauty is in the eye of the beholder. A proverb we’ve probably all heard countless times, and maybe even said. But ‘beauty is in the eyes of the beholder’ also has a literal meaning, which is that when we see things we evaluate the beauty of those things on our own standards of aesthetics. So in theory what beauty is, or who is beautiful, is highly subjective, and unique to every person. Except of course it’s more complicated then that, and we learn early on what the accepted and expected standards of beauty are in the society and culture in which we are growing up. We see what we are shown, and by and large this does not seem to readily include disabled people, and those living with rare conditions. But Hannah Harpin is determined to challenge that, to be the change, to help make society’s definitions of beauty change, and grow to be more inclusive, more real, more true.

Hannah has always known she wanted to be a model, but at the age of around eight years old when she shared this dream with her class another pupil told her she’d never be a model ‘with the way she looked.’

Comments like this, and worse, were often thrown in Hannah’s direction, making her recent signing with the model agency Zebedee all the sweeter for Hannah.

Because as Hannah explained, it is “really, really special because now that I am a model, I can just say to my younger self that I did become a model.”

www.samebutdifferentcic.org.uk

19

Hannah’s formative years were framed by the bullying she received, because unlike some invisible rare conditions and hidden disabilities Ectodermal dysplasias (ED) typically involve defects in the hair, nails and teeth. Shortly after birth, her parents noticed that she had a cleft palate. It was also noticed that whilst Hannah had been born with hair as this naturally fell out none grew back to replace it. All these signs pointed towards something being wrong but it took around three years for Hannah and her family to receive a proper diagnosis.

Hannah remembers that from an early age other children would stare at her in the street, and to her it felt as if even from that young age the other children were starting to see and learn that there are differences between people, and that because they didn’t know how to communicate that they’d start to make fun of her instead.

Now that she’s older Hannah can articulate that she’d prefer people to approach her and to ask her questions rather just stare at her. Hannah recounts how once a little boy asked her why she was wearing sunglasses when it wasn’t sunny (Hannah is photosensitive), but his parent’s quickly told him to stop being rude, to not ask questions.

But actually, in doing so, discouraged the natural curiosity a child feels and taught him that there was something ‘wrong’ that shouldn’t be talked about, that there was perhaps even something to fear.

20

Hannah’s first experience of taking part in a photo campaign came when she was just nine years old, and she took part in a Jeans for Genes day, this led to Hannah being featured in an article in the Daily Mail, and being interviewed on the Radio. These early positive experiences were rare bright points against a darker background of bullying, of struggling, of trying desperately to fit in. Growing up in an era of social media Hannah was subjected to horrific online bullying, and throughout high school had to live with seeing her peers make fake social media accounts about her. But it is testament to Hannah’s inner strength that she chose to meet this head on, often trolling the trolls back. As Hannah explained although she’d never troll anyone based on their looks, she did push back, to show that she didn’t care, that their actions were not affecting her, because if she showed that they were affecting her they’d do it more. It says a lot about Hannah that later on in our conversation when we touched on her early experiences again she told me how bad she’s felt when, after leaving school, she saw the horrible online bullying continued, but this time targeting a younger girl. After a few years another disabled girl had joined the school, and Hannah had taken her under her wing. Hannah shared ‘I remember when I left that school, I used to see all of the social media, the snapchat stories filming her, laughing about her and I felt bad because usually I was the one to get picked on.’

STYLE

Although Hannah has had to learn to be strong, she looks fragile. Indeed Hannah is at times mistaken for someone undergrowing chemotherapy, both her baldness and her pale skin as well as her slender frame allude to this sense of fragility, a beautiful but breakable girl. In both her modelling and in real life Hannah plays on this through creating looks which are both strong and striking. As a younger teenager Hannah experimented with looks that would help her to fit in, using clothes, make up and wigs that would make her blend in, indeed it was only in 2019 that Hamnah felt able to share a photograph of herself on social media without a wig on, and to embrace her bald head.

Hannah no longer tries to hide her true self. Indeed, for Hannah claiming the attention she has always received is perhaps almost cathartic, as she explains now that she is older she has chosen to dress in a very gothic, alternative way so that she’s giving people another reason to look, something to stare at rather than simply staring at her. Hannah is quite simply no longer trying to hide her true self, to fit in, but to challenge stereotypes, to stand out, to be seen, and with that to be heard. Because as Hannah said if people knew more about her condition, and about rare diseases, and both hidden and visible disabilities maybe they’d be more understanding.

Whilst studies have shown that the recent and repeated lockdowns have been hard on teenagers it was the boredom of lockdown that helped Hannah to make her dreams come true. Hannah began making and sharing TikTok videos, some of which went viral, bringing her to the attention of the producers from the ‘Shake My Beauty’ TV series, and in early 2021 Hannah was signed by Zebeedee Management.

For Hannah stepping back in front of the camera has made her feel strong, confident, like herself again, the self she was before she was bullied, before her dreams were laughed at. And now she’s allowing herself to dream big again, to dream about one day being featured in a huge campaign that sees her photos hanging front and centre as you walk into a busy high street shop, or walking the runway in London Fashion Week. Now nineteen years old Hannah is both ready and excited to unfurl her wings and to fly.

What is Ectodermal Dysplasias ?

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

You can find out more about Hannah and the Days of Rare project by visiting www.samebutdifferent.org.uk/daysofrare

www.samebutdifferentcic.org.uk

21

LIVING WITH < Lucy Root and Timm Harriss photographed

by Ceridwen Hughes for Same but Different’s Beauty of Rare project

If I could tell people one thing it would be that

HAVING A R ARE DISEASE DOES NOT MAKE YOU A WEIRDO We caught up with Lucy Root after she took part in Same but Different’s Beauty of Rare exhibition, Lucy wanted to raise awareness about living with the rare condition Ehlers-Danlos Syndrome. We hear more from Lucy about what life is like living with rare disease.

“I have Ehlers-Danlos Syndrome Type 3 which means I am hypermobile. It is a soft tissue connective disorder that can affect anywhere in the body.

Because it’s a collagen deficiency as well, it can affect anywhere in your body from your brain to veins or even your heart. It just has an effect everywhere.

I first realised there was something wrong in 2011. I was on my bed and all of a sudden my wrist starting burning. It was really weird and it started to come up in a blister. At first, we thought it might have been a bite but within 48 hours I was on a paediatric ward in the local hospital because I had blisters all over my legs and on my back. Looking back at my childhood there was obvious signs, but it is common for people with EDS not to get diagnosed until they’re in the their teens, because symptoms normally start becoming worse when they’re going through adolescence.

www.samebutdifferentcic.org.uk

23

What is Ehlers Danlos?

Ehlers-Danlos syndromes (EDS) are a rare group of inherited conditions that affect the body’s connective tissue. Connective tissues provide vital support in skin, tendons, ligaments, blood vessels, internal organs and bones.

Several types of EDS may share some symptoms, including: - an increased range of joint movement - stretchy skin - fragile skin that breaks or bruises easily EDS can affect people to varying degrees ranging from mild symptoms to more disabling and, in rare cases, life-threatening symptoms depending on the type of EDS and which genes have been affected.

As a 17-year-old girl losing all my hair was huge. I felt really ugly and I just didn’t want anyone to see me. I didn’t go to college for two weeks, I refused to leave the house.

In addition to the blisters, my speech was affected when I was growing up and I have a condition associated with it called Pots which is a Heart condition. As recently as 2017 I also lost all my hair. I had really long hair that just fell out in the space of just 48 hours. I thought that people are going to look at me and know I was sick. Before then people often did not know I had EDS because it is invisible but suddenly people could see there was something wrong.

On the flip side when you have an invisible condition sometimes people do not understand that just because you’re wearing make-up and look well that you can still feel so poorly. I suffer from chronic fatigue and that is so it is hard to explain to people as they just don’t understand it is not simply tiredness.

24

Having a rare disease as a teenager has impacted on me massively. When I initially became ill I was right at the start of my teenage years and building my first proper friendships. I have only really got one proper friend who has stuck by me. There was a time when I missed a year and a half of school because of EDS, so I’ve basically had no friends or social life for a few years. I’m just starting to get it back now.

When you’re in the hospital, you meet friends that are going through the same thing as you, but when you leave the hospital you have no one that’s going through the same thing as you and it is hard.”

You can find out more about Lucy and the Beauty of Rare project by visiting: www.samebutdifferent.org.uk/beauty-of-rare

LIVING WITH

ucy Root L photographed

by Ceridwen Hughes for Same but Different’s Beauty of Rare project >

www.samebutdifferentcic.org.uk

25

beauty OF RARE Despite 1 in 17 people in the UK currently affected by a rare disease, wider awareness is limited. Same but Different’s creative director, Ceridwen Hughes wanted to tell the personal stories of individuals with lives affected

by Rare Diseases through creative photography. You can view the full Beauty of Rare exhibition online and learn more from the comfort of your sofa through a virtual exhibition.

CLICK TO SEE THE FULL EXHIBITION

Maddox

Maddox has a rare genetic disorder, which is a perinatal form of hypophosphatasia (HPP). When he was born, we all noticed different things about him that weren’t what we were expecting. I noticed that his legs were bowed and my mum noticed his breathing. He was diagnosed at a week and a half days old because of his failure to thrive. Initially they were preparing us for bad news and they spoke about palliative care. We were fortunate that one of the consultants did lots of research and identified a drug trial for the condition in Birmingham.

It meant relocating for up to 6 months, which I had to do on my own, as Maddox’s dad needed to continue to work. We were very lucky with the drug trial as we noticed changes in Maddox after a few weeks. He started to get stronger and continued to improve. He was late with sitting up and walking and crawling and that kind of thing but he caught up eventually. We couldn’t believe as a family that there was even a study going on about such a rare condition as hypophosphatasia. We feel really lucky that we were in the right place, at the right time and we had access to the drug for Maddox because, without it, he wouldn’t be here now.

26

GALLERY SPOTLIGHT

Barbara Thirty-five years ago when my two children were small, and I was a single parent, I was diagnosed with progressive Multiple Sclerosis. To say it changed my life is possibly no understatement. MS manifests itself differently from person to person and mine affects my balance. I sometimes have a major balance malfunction and appear drunk and it restricts how far I can walk now. Basically, my head and heart want to do so much but my body has other ideas!

Jonathon I have Huntington’s which is a really complex disease that affects you in different ways. I was diagnosed when I was 26, but to be honest, I’ve always believed that I’ve had it. Both my sister and brother have it and they live in a care home. The worst part of the condition is the end probably. Seeing my sister and brother and the way it has affected them, but at this point, I am just trying to be positive. That’s all I’ve ever done.

There is no treatment for Huntington’s Disease at the moment. It is really important that as much research as possible is done to find treatment because it is a terrible disease. When you initially get tested and given the diagnosis, it is really hard going.

It is a nightmare. I just realised that I had to keep my mind occupied and so that is why I started running.

I used to run nearly every day and have completed marathons but I have had to give it up.

If I was able to speak directly to the researchers I’d say it is the worst illness of all time. They need to keep on fighting for the people like myself and my family because we’re all fighting for the research ourselves, every day. If you start thinking about it, it’ll drive you crazy. You just have to crack on with your life.

www.samebutdifferentcic.org.uk

27

< ‘Me painting me’ Limited edition Henry Fraser

The ART of

COU R AGE

Henry Fraser has been on an incredible journey since experiencing a life changing accident in his teenage years which has left him paralysed from the shoulders down. From starting his recovery to becoming an accomplished artist and writer, his determination and positive outlook have led him to triumph in ways most of us could not imagine.

In his first book ‘The little big things’ Henry unflinchingly describes the day that changed his life. A life that was full of promise. Like his big brother before him Henry had been offered a rugby scholarship to attend Dulwich College and his life was a whirlwind of activity, from training through to the exhilarating adventures and freedoms that came with moving to London. It was whilst on holiday in Portugal with his friends after completing his AS level exams Henry took a fateful dive into the sea, hitting his head on a sandbank.

Henry describes the truly frightening days and weeks that followed in hospital in an unfamiliar country, and the poignant moment he was reunited with his parents.

28

ART He writes with honesty about his dark days, the incredibly difficult period he went through after his accident, and the utter devastation he felt on the day in which he first saw his reflection, a ‘razor thin, weak young man’ who was lost in a bulky wheelchair. A reflection that was simply not his own. He shares the deeply raw yet beautiful moment when later that night, at 4am, alone and exhausted in his room he felt a calmness descend, when he realised that there was no point in being angry or sad, and that he ‘might as well just get on and face what was coming.’ And so he began his journey towards recovery, to acceptance, and to happiness. For Henry choosing to ‘accept and adapt’ has meant working hard to be as fit and well physically as possible, and to embrace opportunities as they arise, no matter how daunting they might initially seem. Which is not to say that this was always easy, indeed Henry shares that ‘accepting my situation was the single most difficult thing I did.’

Henry grew up in a loving, close knit, fiercely competitive and busy family, the third of four brothers, with parents who encouraged their sons to channel their energy through sports.

But art, design and creativity were also part of the fabric of his family life. Henry was the quieter, more cautious and careful bother, but he also creative, and had an early love for art. But by the time he reached his midteens Henry was falling out of love with art, finding himself simply trying to get through each lesson rather than actually enjoying it.

It wasn’t until a few years after his accident, and a period of enforced rest to try heal a bedsore when Henry, utterly bored, found a basic drawing app on his iPad that he could use with his mouth stick that his Dad had adapted or him after seeing something similar on the Christopher Reeve website.

Although the process of learning to draw in this new way was often frustrating it reminded Henry how much he loved art.

‘Blue Giraffe’ Limited edition Henry Fraser

After posting his first drawing on social media Henry was encouraged by the comments he got, and over the coming months continued to draw, to experiment, and to share his work which eventually led to some commissions, and his first exhibition in 2015. In a brilliant, and telling social media post in 2020 Henry shared a photograph of his 14 year old self drawing a tonal selfportrait from a photograph propped up in front of him. A contrasting photograph below depicts Henry painting a more recent, and much more vibrant and colourful selfportrait, this time using his mouth. The caption below reads ‘my accident took me back to art. Adversity has given me a gift’.

And it is this sentiment that truly sums up Henry, and his approach to life.

Over the years since his accident there have been many words used to describe Henry, and none so more than the word inspirational perhaps. But the word that I’d use is humble. Grateful is another word that could be used. In the years since his accident Henry has both exhibited and sold his art, he has written two bestselling books, and is a sought after motivational public speaker.

And yet when I asked Henry if he feels like an artist, or a writer he said no. Not yet.

But what qualifies someone to be known as an artist? Is it someone who draws or paints, or creates sculptures, or writes books, poems, films, or other things which can be considered as works of art? Because if it is then Henry Fraser is an artist. And an author.

‘Magenta Ostrich’ Limited edition Henry Fraser www.samebutdifferentcic.org.uk

29

ART

< ‘Mont Blanc’ Limited edition Henry Fraser In his second book, ‘The Power In You’ Henry uses his own challenges and achievements to encourage us all to learn to accept our pasts, to live in the present and to shape a positive future. To embrace positivity, and to count all the ‘big little things.’ Something which is hard for so many of us to do, for so many different reasons. After his accident Henry wasn’t able to talk easily due to the tracheotomy he’d needed, and in that time he learnt a newfound appreciation for the power and beauty of words. He learnt to listen, to really listen, and to hear both what was said and that which was not said. And from the countless cards, letters and messages he received he felt, really felt, the way in which words could truly convey love, support and hope. In sharing his experiences in this second book Henry illustrates that it is possible to not only accept and adapt, but to embrace and enjoy a new way of living. To borrow Henry’s words, sometimes ‘you can’t be what you can’t see’, and in Henry sharing his experiences we can see what it means to be positive, to see hope lived, and determination triumph. For Henry the unimaginable accident which forever changed his life also created a space which allowed him to become mentally strong, and to see the beauty and joy in the everyday, in the details beyond the functional.

30

“Life is much richer and larger in scope, there is so much to appreciate, so much to become involved in, so much to be thankful for.”

In the early years after his accident Henry was supported by his friends and family, and also by some other men whose lives had also been changed when they too suffered injuries which left them with lifelong disabilities. In the first months and years Henry focussed on his physiotherapy, on defying all the expectations of what it was possible for him to do with the level of injury he had sustained. About ten months after the accident Henry went to visit the rugby player Matt Hampson, Matt had also suffered lifechanging injuries when a scrum collapsed on him, but had gone on to set up the Matt Hampson Foundation which provides advice, support, relief and/or treatment to anyone suffering serious injury and/or disability.

Henry remembers seeing that Matt had this fantastic home, a house which empowered him to live independently, he was as Henry recalls, actually living his life. And that was a huge moment for Henry, a catalyst to start thinking about the future, about life, about what he was going to do, and to be. And what a future it turned out to be.

‘The Little B & ‘The Pow the bestsellin

by Henry ar instore and

Big Things’ wer in You’ ng books re available online.

EXHIBITIONS

where to VISIT

Our pick of the most ancipated immesive art & design exhibitions coming up in early 2022.

VAN GOGH ALIVE FESTIVAL SQUARE, EDINBURGH The spectacular immersive digital experience, featuring Van Gogh’s most famous works is heading to Edinburgh in mid-March.

< Photographs by Redd, Unsplash

MARTA MINUJÍN, LA MENESUNDA TATE, LIVERPOOL Be transported to the vibrant streets of Buenos Aires.

Marta Minujin’s maze-like La Menesunda installation inspired by the city comes to the Liverpool gallery this spring, it even comes complete with a nail salon you can visit! < Marta Minujín, Wikimedia Commons

WEIRD SENSATION FEELS GOOD DESIGN MUSEUM, LONDON Autonomous Sensory Meridian Response or ASMR are sensory experiences in reaction to sound, touch and movement. Visitors can interact with installations in a fully immersive acoustically tuned space. It opens May 13th. < A space for close-looking, Elsa Soläng, 2020,

www.samebutdifferentcic.org.uk

31

FILM < Iggy and his family feature in the Journey of Hope short film. Photographed

by Ceridwen Hughes

JOUR NEY OF

HOPE

‘Journey of Hope’ is a short film created

by Same but Different in partnership with Illumina. The film offers a glimpse in to the lives of families where children have received a rare genomic diagnosis.

In a world where labels and diagnosis are often framed negatively, this film highlights the reality of both the search for a diagnosis and the impact of the diagnostic moment. Above all else it compels us to think about the power of genetic diagnosis to reframe how we view our relationships, how we understand each other and most significantly, how a different kind of ‘hope’ is possible.

Filming for the ‘Journey of Hope’ took place in November 2019 and involved travelling from our studio in North Wales to Cambridge (UK), Gdansk (Poland) and Amsterdam (Netherlands).

www.samebutdifferentcic.org.uk

33

For the f irst time, I didn’t feel alone in this crazy journey and that things are just as they should be. To be heard, and for Iggy to be seen, was empowering and therapeutic, scary and absolutely our raw truth out there Sarah, Iggy’s mother.

34

The following is an interview with Iggy’s parents during the making of the film.

“I guess when we got the diagnosis, our journey began. It began with understanding Iggy more. It began with a lot of appointments and specialists. Our diaries became, and still are, full of caring for Iggy’s needs, which are so complex. Its a guessing game basically on what he needs. So that journey of completely accepting and letting go, that your life will never be normal with him and accepting that that’s ok and that we’re going to be happy and that Iggy’s clearly happy and I think, yeah, it began the process of accepting what that means.

On my worst days I just feel so angry and sad that he’s not normal and then I feel guilty for those feelings because that’s just who he is. And I get a lot of those days, but more and more, I have days that are about accepting and being really grateful that he is exactly who he is. I think he’s just incredible, and that’s definitely a part of the genetic condition so weirdly, I’m also grateful for it.”

www.samebutdifferentcic.org.uk

FILM

what to WATCH INVISIBLE MANNERS NEIMANN PICK UK The animated short film illustrates the lived experiences, challenges and emotions of those affected by invisible conditions. Written & directed by John Lee Taggart with animation

by Lingxi Zhang.

OUR CURSE TOMASZ SLIWINSKI

JOURNEY OF HOPE SHORT FILM ‘Journey of Hope’ is an award-winning short film by Same but Different in partnership with Ilumina, offering a glimpse into the lives of families where children have received a rare genomic diagnosis.

CLICK TO SEE THE FILM

A young couple grapples to overcome their new-born child being diagnosed with a rare and lifethreatening illness in this Oscar-nominated documentary.

UP FOR AIR ARTEM AGAFONOV The film tells the story of Jerry Cahill, a 53-yearold pole vaulter who is fighting a degenerative respiratory condition and depression.

Following Jimmy for five years the film explores how chronic illness disrupts his physical, mental, personal and professional life.

35

AMSTERDAM G e t away

We met Iggy’s family in the city and it became the backdrop for our shoot.

We’ve shared some of our travel recommendations for the destination from hotels to family-friendly activity ideas accessible for everyone.

^ Iggy and his family feature in the Journey of Hope short film.

Photographed by Ceridwen Hughes

36

ACCESSIBLE TRAVEL

EAT DIGNITA CAFE HOFTUIN Situated within the pretty Hoftuin gardens, the cafe offers a vibrant all-day brunch menu and a variety of sweet treats and coffee.

Dignita is part of a global organisation offering training to support vulnerable groups. This location is also wheelchair accessible.

STAY HOTEL CASA AMSTERDAM-OOST Hotel Casa is located just a stone’s throw away from Amstel Station in the trendy area of Amsterdam-Oost near the Tropenmuseum.

The modern hotel offers a range of rooms including a fully accessible room with washroom.

PLAY STEDELIJK MUSEUM MUSEUMPLEIN The Stedelijk Museum is accessible to anyone who is curious to visit exhibitions and events that showcase contemporary art and design. At stedelijk.nl online, you can easily view what’s on and plan your visit with the option to book a range of tours and programmes. ^ Photographs by Liam McGarry & Frans Ruiter, Unsplash

www.samebutdifferentcic.org.uk

37

MY LIFE

Dying MATTERS We first met Sabrina and her son Carson five years ago when they shared their experiences with us for an exhibition around rare disease. Sabrina is in end-stage heart failure and recently chatted with Ceridwen Hughes about her life and why talking about death and dying is so important.

“My name is Sabrina Jones. And I’m a manifesting carrier of Duchenne Muscular Dystrophy. I was originally diagnosed with a heart condition back in 1996. I had gone over to America to work and been having blackouts that I couldn’t explain and so I went to the hospital over there. They diagnosed me with a condition called dilated cardiomyopathy but at that point in time, we didn’t know why. I returned to the UK and after a bit of detective work, they discovered that it was related to my being a manifesting carrier of Duchenne Muscular Dystrophy.

When I was given the diagnosis I was actually in hospital as they were considering doing a heart biopsy to try and find out what had caused this cardiomyopathy. They kept asking me every day, did I have any genetic conditions that I knew about. It was only then I thought to mention that I was a carrier and that was like a lightbulb moment.” abrina Jones, photographed by Ceridwen Hughes S for Same but Different’s Dying Matters peoject >

00

www.samebutdifferentcic.org.uk

00

It is really complex, because all carriers potentially can develop heart problems, but not all carriers are manifesting - you have to have all of the symptoms as well as the cardiac symptoms. I do have other muscle involvement, but the heart one is the worst.

At the moment, it’s really hard because I can’t sleep at night. Literally, as soon as I lie down, I’m struggling to breathe, my heart’s racing, and I am just really uncomfortable.

Daily life is a struggle. In the day I am exhausted but at night I just can’t sleep so it’s a bit of a vicious circle. I am having far more bad days now than good days. It used to be the other way around.

My mother was a carrier as is my half-sister and I had a brother who had Duchenne Muscular Dystrophy. There was a strong family history but when I was younger they knew nothing about manifesting carriers.

I was told it wouldn’t affect me until I went on to have children of my own.

It helps to have Carson, my son, because knowing that he’s there, he gives me a reason to push through and keep battling.

Otherwise, and I don’t like to say this, the temptation would be just to shut my eyes and not wake up. It is good to have something to fight for.

I’ve been very lucky with the treatment I have received but as it is so rare there has never been a clear understanding of how the disease would progress. There just aren’t case studies to compare with.

My son is 14 and tomorrow I have to sit down and have the conversation with him to explain I am coming to the end of my life. It is going to be really, really difficult. I don’t want him to be frightened, or scared or anxious but he needs to be in possession of the facts about what’s happening. It is even harder because Carson knows about Duchenne as he too has it.

It is extremely rare that I would be affected like this. One in a million!

Awareness is so important for both the general public and medical profession.

There have been times where I’ve had doctors tell me that there’s no such thing, it doesn’t exist. I have been able to show them websites and point them in the right direction. There is still a lot of ignorance out there, there’s still a lot of work that needs to be done.

In terms of where I am now, heart wise things have progressed significantly, to where everyday life become a bit of a struggle. I’m having to use power chair now to get around and whilst I don’t like to say this, I am coming to the end of a journey.

I am in the final stages of heart failure. It is quite hard to cope with and so I just live day to day.

40

He understands his condition is progressive and sometimes I think he looks at me as a benchmark. For him, seeing what I am going through and my struggles is difficult because he can’t help but think about his future. It is so difficult that both my son and I have this condition.

A good day is when I can get up and breathe. If I’ve managed to have a couple of hours of sleep, then I sort of feel better able to cope with things. Yeah, that would be a good day.

MY LIFE

TREASURES of MY LIFE Here is my journal, I first started writing this back in 1999. It was in that year I met my cardiologist in Manchester and also my neuromuscular consultant. I decided at that point to keep a journal, and to write down my journey. I have written about all sorts, things about my condition as well as my life in general.

This item probably seems like an odd & strange thing.

But I’m a massive Terry Pratchett fan. Along with my friend, we used to go to the conventions. I had been quite ill and didn’t think I was going to get to go but we managed it and so this badge was from that trip. It was a really fun couple of days that I spent around my birthday.

I am a big reader and in fact, it is really important to me, especially when I’m struggling. In the night when I can’t sleep, sometimes I’ll just get one of his books and forget about the world for a couple of hours. I find it really therapeutic and so it has been a big help in my life.

This is Carson’s scan photograph.

This is so important to me. The whole pregnancy with Carlson was a massive shock as I was told categorically that I would not get pregnant. It was a huge surprise. I never thought I would get to be a mother and so any thoughts I had of being a parent were kind of written off. A lot of items that I chose as being significant are related to Carson.

www.samebutdifferentcic.org.uk

41

This bracelet was a birthday present from Carson.

It is the first present where he went out and actually chose it himself. His carer took him shopping and he chose it so that’s really special because of that I don’t go far without having that around my wrist.

These are some SIGNIFICANT THINGS that have been in MY LIFE

This is the little bracelet from when Carson was born.

It is teeny tiny. They couldn’t keep it on his wrist because he was so small so they had to put it on his ankle. I keep it as a reminder, because the big bruiser is a 14 year old now so I just look at it and remember how tiny he once was.

^ Images featured from the Dying Matters short film

Carson found heart shaped stone.

He brought it home and said he wanted me to have it. It is so unusual and beautiful especially because it is from him.

42

MY LIFE

This final item I selected was a gift from Carson’s dad We are divorced now, and we have not had an easy time of it but this is the one present that he bought me that’s actually got some real significant meaning. I love all things Native American and this is a Native American symbol about health. It was the first present he had given me where he had really thought about it and the meaning behind it is really special. I keep that hanging above my cell phone at home, just watching over me and hopefully giving me a bit of strength.

I think I’ve had a good life and I’ve achieved all the things that I wanted to achieve. My biggest dream as a child was to go to America, and live and work there.

Even though that didn’t work out the way I hoped because I had to come home due to illness. I did it. I can honestly look back on my life and say, I’ve got no regrets. I feel like I’ve accomplished everything that I needed to accomplish. I feel quite happy and I am satisfied with the life that I have had. How old am I? I am 47.

When it comes to the difficult questions of, you know, dying, and what matters most to you?

The biggest thing for me is Carson and what happens to him, and obviously, that is huge. It is a really, really difficult thing to sort out especially because of the circumstances, because of both of us having health problems and disabilities. It is really important to ensure that both mine and his wishes are going to be taken into account.

I want to make sure that he is taken care of and looked after in a way that is the best for him. There are so many unknowns and finding somewhere for him to go after I die is really complex. I am fighting to try and get things in place.

www.samebutdifferentcic.org.uk

I would like Carson to remember that I always fought for him and to know, no matter how difficult things get, I was always there for him. Even though physically, I can’t look after him now, I am still there for him emotionally. We have a very close bond. I would like him to always hold on to that.

43

What advice would you give someone in a similar situation?

If you could tell a medical professional one thing what would it be?

Reach out and get as much help and support as you can. Search out organisations, such as, Same but Different, that can provide help and support. Don’t try and take it all on yourself. One thing that I have learned over the years is that you have to fight to get what you need. It is not about getting what you want, it is about getting what you need. You just have to tell yourself that the end result is going to be worth it.

I would just say to listen to their patients.

Quite often the people that are living with a condition, especially if it’s a rare condition, know more about it than they ever will.

Don’t be too arrogant to hear the voice of the patients and take on board what they are telling you. There is always something new to learn.

Same but Different has been supporting Sabrina’s family through its Rare Navigator service since its inception in 2019.

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

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

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

Our Rare Navigator team is dedicated to supporting families affected by Rare Disease, to get in touch contact: enquiries@samebutdifferentcic.org.uk

44

The service is invaluable in so many ways. They have helped to co-ordinate things especially as there are so many people involved. It is exhausting trying to get everything sorted so having the right kind of support has been amazing. They also advocate for Carson in a really strong way which has been important because he doesn’t always feel able to speak out. When we have big meetings it’s quite overwhelming but it is made easier because of the Rare Navigator service. We know that there is someone who can help us convey what we are trying to say and be there when we need someone to speak to. I don’t know what we would do without this sort of support.

Sabrina Jones

When things are really difficult what get’s you out of bed?

Why did you choose to take part in this exhibition?

Carson absolutely he gives me a reason to keep going, also I am not ready to just give up. It would be very easy to just take to my bed and say I’m done but that’s not me. The more somebody tells me I can’t do something, I am going to prove them wrong.

It has actually helped me by doing this.

When I was told about it I thought that was quite a timely project for me to get involved with. Dying is something people just don’t talk about. We are all going to reach our end, at some point. I have always felt very strongly that it’s not something that Carson should be frightened of. I have always been quite open with him because I think that way, he’s got nothing to fear. As a child, if anyone died, we weren’t allowed to talk about it. We weren’t allowed to show emotion but I think that’s an unhealthy way of dealing with it. The more we talk about things like this, the easier it becomes.

FIND OUT MORE ABOUT THE EXHIBITION Sabrina’s story will feature in ‘Dying Matters’, the upcoming exhibition by Same but Different. If you would like to share your story as part of the project, please get in touch for more information.

SHARE YOUR STORY

www.samebutdifferentcic.org.uk

45

We know a terminal diagnosis can be a huge shock to you & your loved ones, whether expected or not.

That’s why the Marie Curie’s Information and Support service is here to offer a listening ear if you need it during those difficult weeks, months and years. We also know grief can be difficult to navigate when a loved one dies and over the past two years, millions of people will have been bereaved.

We know there are more than one million people across the UK, who will be caring for someone with a terminal illness in their final moments.

For many people who find themselves in these situations; struggling to cope with the a variety of pressures, feeling isolated and alone or who may have been bereaved, Marie Curie will be on hand to provide support or a listening ear.

Whatever your question, Marie Curie is here to help with practical information and support on all aspects of life with terminal illness, dying and bereavement.

Whether you need trusted information or to talk to someone, you can call us, or chat to us online, visit our website or order information in print.

Call free 0800 090 2309* Or visit mariecurie.org.uk/support *

Calls are free from landlines and mobiles. Your call may be recorded for training and monitoring purposes.

Whatever your question, we’re here to help Whether you need trusted information or just want to talk to someone, we’re here with practical information and support on all aspects of life with terminal illness, dying and bereavement.

Call our Support Line 0800 090 2309* Find information or chat to us online mariecurie.org.uk/support *For opening times, please check mariecurie.org.uk/support Calls are free from landlines and mobiles. No GP or hospital referral is needed. Your calls may be recorded for training and monitoring purposes.

Charity reg no. 207994 (England & Wales), SC038731 (Scotland). Ben Gold/Marie Curie.F384c

46

CULTURE

what we’re READING THE CRACKS THAT LET THE LIGHT IN JESS MOXHAM Jess Moxham’s powerful book, ‘The cracks that let the light in – What I learned from my disabled son’ is a book about the realities of life when your first experiences of motherhood and of becoming a parent, are nothing like what you had imagined, or hoped for. It is so much more than just a book about life with a child with complex disabilities, it is a book about love and hope. But it’s also a book that gives a clear, unsentimental insight into a life filled with additional responsibilities that most parents do not experience.

eviewed by Ilmarie R Braun Project Manager at Same but Different

There were many reasons why I loved this book, and why it resonated with my on such a personal level. But for me the true beauty of the book comes in the very writing itself, because the writing is so clear, so simple in the way that good writing should be. The words don’t try to overwhelm you, or to create a specific emotional response in you. Jess Moxham allows us, the readers, to be part of their journey, to absorb their experiences over the years and to feel them as we feel them, to feel their weight, their significance, and to connect with them in our own way rather then confronting you to feel a certain way. If you enjoy reading because of the power of shared stories to widen your understanding of the world then this book is a must read.

WONDER R J PALACIO Over the years I have purchased over 20 copies of Wonder to share with friends, teachers and family. From the moment I started reading it I was captivated, and my husband often found me sobbing over the pages, so closely was I able to relate to the story. Having a son with a facial difference, whilst he has not experienced the difficulties that Auggie has, it was a mother’s fears that resonated. Whilst this book introduces a young boy with facial difference and explores his first steps as a teenager in school, the friendships he makes, and difficulties he experiences, the strength is in its ability to see past his differences and focus on the person he is behind the condition. A book of tears, happiness and above all, hope.

eviewed by Ceridwen R Hughes Photographer & Director at Same but Different

00

www.samebutdifferentcic.org.uk

00 47

AGAINST ALL ODDS When faced by adversity some of us try our best to carry on, some hide under the duvet and wait for a better day and some, like Herman Otten, are driven to be at the heart of change. Despite experiencing many personal challenges Herman is a Patient Advocate at Inspire2Live and a parliamentary lobbyist in the Netherlands.

He has made remarkable strides in pushing for the best cancer care and cancer diagnosis across the Netherlands, making it fair and accessible to all. He has been involved in many initiatives with Inspire2Live, all aimed at making the lives of cancer patients better, providing advice, compassion and understanding.

48

^ Photographs featured are courtesy of Herman Otten

Talking to us here at Rarity Life he explained, “My experience with cancer started a really long time ago. It started with my dad getting bladder cancer 35 years ago and then sadly dying of complications during surgery. In 2012, I was also diagnosed with bladder cancer. I was treated with BCG. That’s bovine tuberculosis. My dad, before I was born, almost died of tuberculosis.

He barely survived. So it’s ironic that he died of bladder cancer while surviving TBC and I managed to survive bladder cancer due to it. It piqued my interest and I wanted to know everything about cancer.

It’s not my field of interest and never was but suddenly, it became my way of life.

From there it was a small step to getting more active as a patient advocate, and I started by fundraising for cancer research.

The people who organised the fundraising then started up an organisation called Inspire2live which I also joined.”

MY LIFE During Herman’s cancer diagnosis and journey, he was compelled to understand more and to improve things for other cancer patients. It was a progressive path that is aiming to create equity in diagnosis across the Netherlands. Herman told us, “Since I had lost my job and my house after the diagnosis, all I had left was the ability to be, at least, a little bit useful for others. By doing so, at the same time I learned a lot from others and saw a lot of things going wrong in their process from diagnosis to treatment and aftercare. That’s why I joined Inspire2Live to address those wrongs. It has been a natural progression, I have always followed, and been interested, in the politics at The Hague and Brussels. In my daily work, I used to work for organisations of social partners and before that, I was the secretary-general of the student union in the Netherlands. So I had a lot of contact with members of parliament. I had a good network to use.And since I didn’t have a paid job anymore, I would might as well try and change things as a lobbyist, make things a little bit better, for other cancer patients.”

As Herman stated;

Even with a broad panel genomic test it is like looking through a keyhole into a room: you can only see part of the room. Whereas whole genome sequencing gives you a view of the entire room. The more you can see, the better chance there is of getting the patient the best possible treatment or access to trials of promising treatments.

< Herman speaking at Inspire2Live

"We want every patient to get the best treatments based on the best possible diagnostics. In the Netherlands, we have a system, you go to the G.P for a checkup or with some kind of health problem, based on his diagnosis, he might refer you to the hospital nearby. That’s usually a general hospital not specialising in any form of cancer. A file is then opened and a budget is set. The budget is for diagnosis and treatment together. The more that is spent on Diagnostics the less that remains for treatment. After diagnostics, if they outsource part of it, they have less money to spend themselves. So there’s a stimulus on doing as much as possible yourself as a hospital. Even if you are not well equipped or specialised in a certain ailment. That’s of course not in the interest of the patient.

You end up with what we call postal code diagnostics and that leads to postal code care, meaning that surviving cancer with a good quality of life depends on where you live. And that shouldn’t be the case. So how do we get from there to a situation where everybody has the same chance of surviving cancer with a good quality of life?”

Herman started talking with a Member of Parliament, who was also a cancer patient.

They both knew that cancer treatment and diagnosis needed to be fairer and patients sometimes aren’t afforded the luxury of time to wait for the endless tests.

The payment of the tests versus treatment also needed addressing. Together with the Hartwig Medical Foundation, that member of Parliament and Herman together wrote up an initiative paper to be submited to Parliament. The initiative passed unanimously in the Dutch Parliament, a huge achievement and giant step forward in cancer care provided in The Netherlands, giving faster access to reimbursed Whole Genome Sequencing to a broader range of cancerpatients.

“In my position and as a lobbyist I was responsible for several political interventions, one of them being a unanimous carried motion in Parliament to give cancer patients with cancer of an unknown primary origin and patients without treatment options yet, but still in good condition early access to reimbursed whole-genome sequencing.”

www.samebutdifferentcic.org.uk

49

Herman still feels passionately about cancer care and equality for all. He blogs regularly and will always take the time to support other cancer patients wherever he can. He wants to make the lives of others, better. He believes arming patients with knowledge is an important part of any cancer patients journey, providing them with the opportunity to make their own informed decisions based on a variety of knowledge gained in the cancer field from research, personal experience, oncologists, specialists, scientists, cancer patients and cancer survivors.

“The most important thing right now isn’t political awareness anymore but awareness amongst patients. Patients now have got choices and need to know that you can ask for something else. There are other options available, and being aware of these makes a huge difference. What you will get offered automatically isn’t always the best, especially when decisions being made are budget-driven. You have to be very careful as a patient and you have to be able to say, Okay, listen, I understand that you want to start with with treatment conform protocol. However I would first like to get more information based on whole genome sequencing and I would like to be further diagnosed and treated in a hospital that is super specialised in my form of cancer.”

Herman’s personal journey is very moving to hear. His positivity and outlook despite all the odds are truly inspiring. Herman’s initial cancer diagnosis was discovered after he felt poorly and had dizzy spells, he initially thought it was the flu and made an appointment with his G.P. After investigation, it turned out to be trouble with his stomach and colon. During his colon treatment and investigations, it was found that he had traces of blood in his urine which, paired with his family history, required further testing and a referral to a urologist. Despite his fear Herman attended his appointment for a Cystoscopy and was shown into the dressing room.

50

Herman explains; “I remember walking into the dressing room and I sat down and I started crying. The staff opened the door and asked me why I was crying? They explained they were only going to look to see what was going on. I told them my father had died from bladder cancer.

The urologist was a very, very caring and gentle woman and she said she would skip the procedure and would schedule me in for surgery. She told me if she’d found anything then she’d take it away. So when I’d wake up, it’d be either good news because there was nothing to find or it was good news because I would have already been treated.”

“So the week after that I got surgery.

They found and removed eight small tumours. Two weeks later I was told I was cancer-free on my screening.”

Unfortunately, this was not the end of Herman’s cancer journey. After 3 months he returned for his check-up. This time his entire bladder was filled with a different form of cancer, totally unrelated to the first bladder cancer. This one was much more aggressive. There was only one choice left for Herman if he were to keep his bladder and that was treatment with BCG. Herman found he suffered a lot of side effects when the treatment started, explaining he said “Your immune system doesn’t recognise bladder cancer and my new cancer was a specific type of bladder cancer that can multiply itself by changing a bit of DNA so it grows aggressively and fast, unchecked by your immune system. But the change in the DNA causes a backdoor to open in the cells which makes it possible for bacteria like in BCG to do something it normally isn’t able to do. Such bacteria usually aren’t able to enter the tumour cells. But since the back door was opened by the tumour cell, they are able to enter the cell and the body. Your immune system can recognise the cells with TBC and then it gets rid of the infected cells.

Since only the cancer cells are infected with TBC, only those cells are destroyed by the immune system.”

MY LIFE “The treatment causes you to get lots of inflammation which causes pain. It means for a guy, the prostate, which is in the same area gets infected too. In my case it got chronically affected. I found I dreaded using the toilet in the morning to urinate as the pain was awful. So it wasn’t the best of times.”

Aside from the pain and the treatment Herman’s life was under attack too.

Because of his cancer and treatment, his work contract ended and wasn’t continued.

He found himself jobless and homeless and ended up temporarily living in a holiday shack. Because of his situation, Herman had no permanent address so couldn’t register for social benefits or any type of help. So mentally and physically Herman was fighting battles to survive on all fronts.

“People often use the term fighting cancer.

Some struggle with the term, they say it’s not a matter of fighting because if someone dies are you saying they haven’t fought hard enough? No, of course not, in that sense it’s wrong. But I think it’s a very good phrase to use because it really is a fight. It is a fight to get out of bed in the morning when you’re facing this and everything that comes with it. It really is a struggle to get up and live your life fully. In the beginning, I just wanted to stay in bed because it all felt so useless.

So senseless. But, I had to get up to make the most out of the day and I started writing on a website called kanker.nl. I have a blog there and I thought maybe someone else coming after me with the same diagnosis might be able to use my experience.”

“I tried everything, even the Salvation Army when I ended up without a roof over my head. I managed to get the holiday shack, so I had somewhere to stay at least temporarily.

Unfortunately, the Salvation Army said they couldn’t help me because I would only be eligible if I was on one of the programmes that they were running but these were only for people with alcohol or drug problems and since I had a roof over my head I seemed to be able to handle myself ok. It felt like nobody cared. I was diagnosed with something that might be the end for me. I might die and it felt like society was saying well, you’re going to die anyway so as far as we are concerned, you are already dead.

You don’t exist anymore.”

“My sister helped me greatly during this time. I don’t know what would have happened without her.”

Having his family there was a comfort to Herman but his struggles were as much mental as physical and at the beginning of his diagnosis, he had little to motivate him until he was inspired to help other people dealing with cancer and the life changes that it brings.

www.samebutdifferentcic.org.uk

51

MY LIFE

Thankfully Herman is cancer-free at the moment and living in a real house again, thanks to his sister. It has been 10 years since his diagnosis. However, because the type of Bladder cancer has a 95% chance of recurrence he still has to have regular check-ups. It’s a part of his life indefinitely now and he said most of the time he doesn’t give it a thought until the week or sometimes even the night prior to his oncology appointment. Then he will worry about cancer returning.

Herman is also focused on his sister who has since been diagnosed with breast cancer which has now spread to her bones. This is also motivating Herman to push forward in achieving the best possible care for every single patient. Frustratingly, as with every country, Covid has slowed down so much in the medical world.

Herman’s frustration in the pandemic is echoed by many. He wants to get things moving in the right direction again.

“I still hope we can speed things up a bit more. That’s what Inspire2Live is working very hard for right now. I mean, there are a lot of people dying at the moment and being diagnosed too late with cancer is completely unnecessary.”

Looking to the future Herman wants every patient worldwide to get access in time to the best possible care, based on the best possible diagnostics. He has such a lovely way to describe what he has been through and is fighting for today. He told us “Weirdly cancer has also has been an enrichment of my life, a lot of people, myself included, are on the highway of life. Daily work, day in day out. Well, then I suddenly found myself off the highway on a very bumpy, off-road, terrain. Stumbling and falling but with a lot of other people and we help each other up and move on together. At the very same time, we can see things those people on the highway have never seen. And sometimes those can be very nice and beautiful things as well.”

52

I think I, on a very small scale, I’ve managed to have a positive impact on the life of at least some cancer patients. And since I started with writing a blog, in the hope that even if only one person should benefit from it. I think I’ve reached my goal. I feel more or less well, if I were to die now it would be without any regrets. I can look back on life and be happy with it. Well, I think that’s the best anyone can hope for!

H E R M A N OT T E N

BEACON

hotograph featured is P courtesy of Herman Otten

In February 2022, UK-based rare disease charity Findacure rebranded as Beacon in the lead up to Rare Disease Day 2022!

Beacon is building a united rare disease community with patient groups at its heart. Their patient group trainings help these often small and voluntary groups to form, grow, and professionalise.

Beacon firmly believes that no one should face their rare journey alone.

Community projects, such as The Student Voice Prize, Rare Disease Showcase series, Drug Repurposing Conference and Rarely Heard podcast, create opportunities for rare disease support groups to make connections with others in the space to advance the rare patient experience as one, united community.

Their patient group trainings, rare community projects and drug repurposing initiatives transcend sectors and borders.

Beacon has helped countless patient groups reach their advocacy goals and overcome diverse challenges. They’ve collaborated with stakeholders to improve the rare disease landscape for the benefit of all rare conditions. They are ensuring that no one faces their rare journey alone.

“Beacon has become a guiding light for my patient organisation’s journey. Beacon’s programmes, trainings, webinars, support, Student Voice Prize, connections, and of course RareChat sessions, have all been fantastic.” Chris Bedford-Gay, CEO, FOP Friends Visit rarebeacon.org

53

STYLE

ADAPTIVE essentials 36-year-old Victoria Jenkins is a disability advocate, entrepreneur, fashion designer and the founder of Unhidden, an adaptive clothing range. Graduating with a first-class degree in fashion design in 2008, Victoria went on to work on fashion lines at companies including Jack Willis, All Saints, Sweaty Betty, and Victoria Beckham. In 2017, Victoria quit her full-time position and started building Unhidden.

^ Victoria Jenkins

The idea for Unhidden was formed after meeting an inspirational fellow patient whilst in hospital in 2016, who had survived cancer, but who now had to adapt to life with a stoma, PICC line, and a chest port. Every appointment she attended meant removing clothing, leaving little room for dignity or privacy, and the inability to wear ‘nice’ clothing. Victoria had also struggled with finding clothing that she could wear and feel comfortable and fashionable in with her own hidden disability. Other than casual clothing, usually resembling loungewear or pyjamas, there wasn’t a lot of choice out there so Victoria was inspired to change this and fill the gap in the market.

Unhidden’s first line was launched online in November 2020. It had taken 4 years of hard work, a Kickstarter campaign and writing a book called The Little Book of Ableism, to help launch the company.

The brand was the first adaptive clothing company to be sold on London’s Oxford Street with a pop-up Shop in May 2021 and in December 2021 Unhidden won the Business For Good award at the Independent Awards.

The award is given by Holly & Co. and is for positive, purpose-led businesses that are making a difference to people and communities. Unhidden was one of 20 finalists that had been nominated for the award.

All of the clothing from the range is sustainable and adaptive to the buyer, offering the choice of dressing beautifully, comfortably and practically. The range can be worn by anyone, from wheelchair users to amputees to people with open ports and lines. It is fully designed with disabilities and health requirements in mind. Eventually, Victoria would like to expand from online sales to shop premises and has many more designs she hopes to bring to the market. Alongside this, she is planning to offer a service to adapt clothes that people with disabilities already own to help keep costs low yet still offer them a choice in how they choose to dress and style themselves.

54

Double Layer DRESS

As we all sport more casual looks presently, this dress works with trainers and flat shoes as well as high heels - wear with over the knee boots for a really killer, minimal inspired look. £90 unhiddenclothing.com

+ ADAPTIVE FEATURES •A ccess through hidden central zip at the stomach •A ccess through keyhole detail • I nternal band across stomach •P ockets

This item has been uniquely designed to help chemo/ radiotherapy patients, PICC line users, Hickman line users, people with stomas, ileostomies, IBS, IBD and catheter users.

The following photographs featured are courtesy of Victoria Jenkins, Unhidden

STYLE

Twill TROUSERS

Whether seated or ambulatory, these trousers can be dressed up and down depending on the occasion/your mood!

Pair with a shirt and blazer for a classically tailored look, or with knitwear/ a slogan tee for a more relaxed feel. £70 unhiddenclothing.com

+ ADAPTIVE FEATURES • Z ip entry at each side as well as hems

•A longer back rise allowing the trousers to sit level at the waist

•R emoved excess from front hip and back of the knee

• F ront wrap feature for size

adjustment at the waist up to a size and a half.

These trousers have been designed to help wheelchair users and anyone with reduced mobility.

Wrap Tee

This top has a sport/ athleisure feel to it (and could be worn to the gym, the fabric is suitable for working out in!) so it can work brilliantly with some printed joggers as well as working brilliantly with plain chinos and trousers. £50 unhiddenclothing.com

56

+ ADAPTIVE FEATURES •W rap design allows

access but also freedom of movement • Z ips at each front seam to allow chest port access.

This T-Shirt is designed to help wheelchair users, TPN users and people with arm ports or reduced mobility.

Wrap TOP Another versatile piece, this can be casual or dressy- add some sequins for a look suitable for parties, weddings or nights out, or with jeans for a casual day at home. £55 unhiddenclothing.com

+ ADAPTIVE FEATURES •W rap tie feature allows easy

access in addition to freedom of movement • Z ips at each front seam to allow chest port access This item has been uniquely designed to help wheelchair users, TPN users and people with arm ports or reduced mobility.

Silk SHIRT Pair with jeans for a smart/casual vibe and that feeling of luxury whilst being comfortable. £80 unhiddenclothing.com

STYLE

+ ADAPTIVE FEATURES •A ccess through sleeves to the

whole arm •C hoice of fastening - magnetic, popper or velcro This item has been designed to help chemo/radiotherapy patients, PICC line users, Hickman line users, people with cerebral palsy and people with dexterity issues.

+ MADE to

ORDER FOLLOW:

Garments in Unhidden’s collection are made to order with the option of requesting specific alterations. These alterations could be regarding sizing or fastenings. Please see each product online for further details. All items featured can be purchased online from unhiddenclothing.com

WATCH OUT for: Unhidden - Future proof fashion TedX Talk with Victoria Jenkins coming soon

@unhidden_clothing

THE LITTLE BOOK OF ABLEISM VICTORIA JENKINS A much-needed guide to becoming a better ally to the disabled community. Victoria tackles language, meaning and implicit bias in the discourse surrounding disability.

Available now, paperback or for Kindle

www.samebutdifferentcic.org.uk

59

^ Photographs by Priscilla du Preez, Christin Hume & Niels Jilderda, Unsplash

Rest & RESET If you are caring for someone or you’re experiencing symptoms of your condition and you’re finding it difficult to get a good night’s sleep it can only make facing daily tasks harder. In our busy lives finding time to relax is often easier said than done, here are some relaxing ideas to add into your evening routine for a restorative night leaving you waking up refreshed.

1

60

Calming ESSENTIAL oils A couple of drops of camomile, cooling vetiver or valerian are wonderful sleep enhancing oils when applied sparingly like a perfume to your wrists.

Your body heat will enhance the fragrance or if you have sensitive skin a room diffuser works just as well.

MADE BY ZEN Aroma Mist Diffuser, £48 johnlewis.com

WELLNESS

2

Take NOTES

3

Soothing SHOWER SCENTS

To help your mind let go of thoughts and tasks before bedtime, take a notebook or journal and get your thoughts on paper. Once written down, you won’t feel as inclined to go over these in your mind through the night.

Choosing relaxing fragrances in your evening routine can help you unwind at the end of the day. Gels with natural essential oils are particularly effective mixed with the steam of the shower.

Organic works Lavender Shower Gel, £12 theowstore.com

4

Netflix & RELAX

When you’re finding it difficult to get a good night’s rest it can only make facing daily tasks harder. Netflix’s latest series in collaboration with Headspace offers a concise way to gain more understanding of sleep. Each episode is conveniently only fifteen minutes long and ends with a guided wind down to help you drift off.

5

Finally, UNPLUG to unwind....

Before you reach your phone to set an alarm for the next day, consider leaving your phone away from your bed and using an alarm clock so you are not tempted to scroll social media through the night.

www.samebutdifferentcic.org.uk

61

HEALTH CARE PROFFESIONALS

IN THE

SPOTLIGHT

From my perspective, the best way to deal with a rare disease is to try and find people who have experience in it. There are so many rare diseases you can’t be experts in all of them but you can usually find someone with more experience if needed.

I love treating rare diseases because my background was as an embryologist. I was interested in all disorders of embryology and growth and things like that, so I’ve always been interested in diagnostic processes and why these things happen. I think each doctor will have their own specific take on how they react to rare diseases. For me, it’s very mechanistic, why does it happen and how can I fix it or find out more about it.

Dr Adel Fattah is a consultant plastic surgeon at Alder Hey Children’s Hospital in Liverpool and has a special interest in facial palsy and microsurgical reconstruction. He has been instrumental in the establishment of a specialist team approach in the treatment of Moebius Syndrome at the hospital.

62

< D r Adel Fattah & anaesthetic

consultant Nuria caring for Isabella, photographed by

Ceridwen Hughes for Same but Different’s Rare Beauty project

HEALTH CARE PROFFESIONALS

I think it is important that there is more awareness of rare diseases because when you look at the number of people affected it is a surprisingly large percentage of the population. As an anaesthetist we often have a close relationship with families. Whilst the surgeons tend to do all the follow-ups, we see the families before the anaesthesia and after the surgery. Our role with pre-op assessment, in particular, is quite important because we are often dealing with emotional families who have anxieties about the surgery and the anaesthesia. I think it is quite important to build a level of trust with the family and come up with a plan that works for everyone. For example, if a child is really scared of needles we can just use a mask and ensure that is part of the plan. We then will keep an accurate record of what we did and how it worked so that we know what worked well for that patient for the future... I always tend to think of my patients as if they were my family, my relative, and I ask myself what I would like for them, how I would like them to be treated. At times when you come across really difficult and sad stories, it is just hard to switch off. I like to spend time out of work with my family, my partner, and by doing hobbies, but at times it’s very hard.

You just can’t help but put yourself in that position of the child or those parents. It can be very hard at times.

Nuria is one of the paediatric anaesthetic consultants at Alder Hey Children’s Hospital.

Photographed by Ceridwen Hughes for Same but Different’s Rare Beauty project

64

Isabella Isabella was diagnosed with Moebius Syndrome at eight months old. A rare congenital disease which causes paralysis in some of the cranial nerves.

This means Isabella is unable to frown, smile or blink, she is also unable to move her eyes from left to right, which affects her coordination and balance.

When Isabella was younger she was fed through a feeding tube and had low muscle tone and vocal palsy, so she never really cried or made any noise. Isabella also has Hydrocephalus which means she has excess fluid on her brain, although practitioners are not yet sure if this is caused

by Moebius Syndrome. Isabella’s family wanted to share their little girl’s story to help break down social barriers. < Isabella, photographed by Ceridwen Hughes for Same but Different’s Rare Beauty project

Imagery courtesy of Hartwig Medical Foundation ‘Personalised treatment of patients with cancer’ video

PERSONALISED CANCER TREATMENT fact not fiction

66

Imagine a world in which each person’s cancer is treated with a personalised, targeted medical treatment regimen. A world in which each cancer battle were being fought within a framework of a detailed understanding of each individual cancer. It is well documented that cancer is the leading cause of death – worldwide.

In 2020 nearly 10 million people lost their lives to cancer (WHO Fact Sheet, Cancer, Feb 2022).

In recent years important progress has been made to try reducing the cancer burden through awareness campaigns targeting known cancer risks, pre-cancer screening protocols and early detection and diagnosis. But whilst it is vital that the correct cancer diagnosis is established in order to plan appropriate and effective treatment the current diagnostic process is in fact limited in terms of truly testing, identifying and understand the specifics of the cancer that each person has. But Hans van Snellenberg is on a mission to change that. A deeply personal mission to fully utilise the exciting advances in science, technology and medicine to change the way we treat cancer, worldwide.

TECHNOLOGY

Hans is the managing director of Hartwig Medical Foundation, which is based in the Netherlands.

The Foundation uses cutting edge technology to drill down into the DNA of cancer tumours, generating a full genome sequence, which in turn offers all treatment options and prospects for cancer patients. For Hans, one of the driving forces behind this exciting new development in the treatment of cancer, the journey started as a deeply personal one when his own father was diagnosed with cancer. For Hans the impact of his father’s cancer changed the course of his career, benefiting and changing the treatment for cancer patients now and in the future.

“It started all in December 2005. My father was diagnosed with cancer, which was already metastatic in the liver and lymph nodes. The prognosis was bad. The hospital options for treatment were poor. They stated that they could try chemotherapy. You are confronted with a disease where you only have maybe a year to live, and then a doctor says we can try a therapy such as chemotherapy, but, only three out of ten people will have a positive reaction to it, the remaining patients will have negative effects and will probably have a reduced quality of life for the remainder of their life. My initial reaction was how is it possible after we invest so much money into cancer research and the best outcome we have is to say only 30% of the drugs are efficient.

That was the start of my exploration with my father. We wanted to find out why the treatment was so limited and generic. After visiting doctors in the Netherlands and abroad we found that the drugs and therapy offered were just guidance. Treatment offered was based on the location of the tumour like lung cancer or stomach cancer but if you look at developments since the late 80s, the knowledge now is that it’s not so much the location of the tumour, it’s much more the DNA mutation which is causing cancer to grow. It could be the fact that things that happen with women in breast cancer for example are the same things that happen with men in stomach cancer. So rather than putting a drug on the market only specialised for a certain type of cancer you could look at the mutation of the tumour. The genetic makeup of the tumour and treat it.”

www.samebutdifferentcic.org.uk

67

Unfortunately Hans’ father died 10 months after diagnosis. But his death was a starting point for Hans to begin to raise money along with four others for the University Medical Center Utrecht. He had met prof dr Emile Voes, a highly respected oncologist and was committed to raising money for the research of the genetic make up of tumours, and the efficacy of drugs. To ultimately give cancer patients the chance of a better prognosis.

“We hoped to discover what types of drugs worked best for different types of tumours.

But back in 2008, there were only a few centres and researchers in the Netherlands that were working on that issue. Emile contacted prof Edwin Cuppen (human genetics) in Utrecht and they were clear on what they needed for their research. They needed a sequencer. I had no idea at the time what that was but learnt simply it reads your DNA. A sequencer costs over 400,000 euro and that of course is a huge amount of money. We raised that money over the next six to seven months and bought the sequencer.

This was not the end of what was needed by the centre, next were chemicals and sundries plus personnel etc. We then realised this was so much bigger and our fundraising was not over. We set up a foundation called Barcode for Life. The Foundation raised money, on average 400 to 500,000 euros a year, just to fund the lab and research. The Centre grew and started working with other centres, one in Amsterdam and one in Rotterdam and it continued to grow until we ended up working with 12 centres.”

In the period of 2008 until 2014 the initiative grew step by step after meeting a Dutch philanthropist who agreed to help sponsor the research conducted with the patients who took part in the DNA sequencing. After suggesting that a purpose-built, high tech lab would be a more efficient way to operate (after 4 years of research their work was spread over 12 hospitals) Hans, Edwin and Emile began looking at the associated costs for this proposal. They concluded that a budget of around 30 million euros would be needed, and incredibly, this was granted by the philanthropist.

68

However, the funding was given with the stipulation that guys who made the plan also should deliver, and so Hartwig Medical Foundation was born. In 2015 Hans left his job and alongside Edwin Cuppen, a professor in Human Genetics started running the foundation full time. Speaking about this remarkable decision to become the full-time Managing Director of the foundation Hans reflects that;

I previously worked in finance and IT so I think in retrospect, it was a very bold move but I didn’t notice at the time because I just felt I had to do it. This was an opportunity and I wouldn’t get another chance, especially with so much support from people that believe in it. Of course, we had our setbacks too but it is still driving innovation in healthcare in the Netherlands.

We started with an empty room, no sequencers no staff – but we built up the foundation. We started a database which now contains data (genetic data and clinical data) of over 5000 patients which made it possible to develop an algorithm to stratify cancers of unknown primary. What we also developed was a very complete DNA test, which is, I think the most comprehensive test there is for cancer.”

TECHNOLOGY

Hartwig Foundation has two separate sides in effect, you've got the database, which is the gathering of the information and the processing of it and then the genetics DNA side. In over 60% of cases, we can predict the tumour type plus if we add in data shared from the pathology departments that can add in an extra 20% so together this gives a better view of which type of tumour it is. The information on the database was collected from patient data coming in from the hospitals we already worked with, and the rest of the data was from the clinical studies we support.

Infographic courtesy of Hartwig Medical Foundation The work is a two-step process. As Hans' explains, “first the DNA sequencing is done, billions of pieces of genetic information is held in your DNA and the sequencer is able to read it all, every single one. The samples are taken out of your blood, which is your good DNA, and out of the tumour biopsy. This way you know what is going wrong, and you can find the mutation between your good DNA and your tumour DNA. The second step is the data component. The results from the sequencing are imputed into Hartwig Medical Foundation’s IT software pipeline. It is analysed and comes up with a treatment guidance based on the DNA. A report is produced and will give the details of the tumour and also the guidance for the treatment. Anybody in the world who would like to use that software pipeline can do so. It is easy to use the software and is packaged for use on the Google Cloud Platform. This enables anybody to get the DNA sequencing done in their own country before accessing the software pipelines. The more people that use the pipeline the more data is collated making treatment options clearer.

The options for treatment could be traditional or from off-label treatments or experimental treatments that could in effect raise the treatment effectiveness from 30% to more than 60%. This is a huge leap forward for cancer treatments. If there are no treatment options, and sadly this will also be the case sometimes, your time can be spent living your life to the fullest without using a treatment that is negatively going to affect your remaining time.”

www.samebutdifferentcic.org.uk

69

For Hans one of the most important outcomes of their work is the provision of a treatment plan that could offer the best possible outcome for the person needing the treatment. Using the example of breast cancer Han’s explains exactly the way in which we can improve treatment “With our data research is done by the Erasmus Medical Center on 700 breast cancer patients. Looking retrospectively at the data (because you only can look at the data that you have generated) you can see that there are different tumour profiles in that group. For instance, for breast cancer, there are many therapies and they’re always given in order. For example treatment one is given first and if you do not respond, you go to treatment two, and then to treatment three etc. It is sequential decision making.

But if you look at the different tumour profiles, you can see that some tumour profiles responded much better to the different treatmentoptions than others. So for certain tumour types you should skip treatment one and go directly to two."

Hartwig Medical Foundation shares their data with other research organisations around the world, to date over 200 data requests and 80 institutions worldwide are working with the data held by Hartwig Medical Foundation. Access to the data is given under strict GDPR criteria (General Data Protection Regulation) because of the sensitivity of the DNA data, and the Foundation requires a signed license agreement. Any requests for the shared data will go through a scientific assessment. A Data Access Board made up of a panel of independent experts looks at each request taking into account what the research it is being used for and considers the legal and ethical aspects of the requests. The data Hartwig Medical Foundation has created is a crucial part of the drive to improve cancer care and treatment worldwide, which is why Hartwig Medical Foundation is committed to sharing and growing the database ethically, and in the best interest of cancer patients.

Data & Graph courtesy of Hartwig Medical Foundation

6,000 high quality tumor-normal pairs pan-cancer (solid tumors) Incidence in the Netherlands, 2017 Hartwig Medical Foundation, 2021

70

TECHNOLOGY Hans is very passionate about the care and treatment of cancer patients and believes that things can and should continue to improve as knowledge and understanding of the DNA of cancers is researched, and better understood.

Technology is driving forward changes to the treatments offered to patients, but there is room for much improvement across the board when it comes to offering the best options to each patient. A one size fits all treatment plan is, quite simply, neither good enough, nor the answer. Hans believes that; “it really shouldn’t matter in which hospital you are treated, you should get the best diagnostics there is and good analysis of your primary tumour, sadly this is not always the case. This is one of the main reasons we are driving this change so much because currently, it depends on which hospital you are treated in and what kind of diagnostics are done. After all, we all pay the same insurance fee so we should have at least the same level of quality of care. Of course, there are very good doctors but at least having the same type of diagnostics, in every hospital would be important for patients. The other point in cancer care I don’t understand is the treatment offered that would only work for 30% of patients. I can understand that having a drug that works for 30% is better than none at all but nobody in the whole system seems to be pushing for a bigger efficacy say 50%.”

The scope of the database could help plan better treatment options for all cancers - from the very rare to the five main cancers; breast, colon, prostate, lung and skin cancer. For example all cancer types will have subgroups of patients who will react differently to the treatment options.

Capturing and sharing this across a national database could mean that different treatment options that might work, or even different drug dosages and the type of drugs used, could be more readily identified.

It is truly ground-breaking work that has the potential to change the way cancer care is offered worldwide, creating a more personalised cancer care specific to the patient.

Hans' drive, passion and positivity is inspiring, and the shared commitment of the Hartwig Medical Foundation team to drive forward the advancement of cancer care has created a momentum for change that offers real hope. And as Hans' explains,

Hans and his team are clear that one way in which to work towards a better treatment model for cancer patients is through creating a standardised process for all hospitals to follow.

“the good thing about our work is it only has benefits. It has benefits for patients because they’re treated better, there are benefits for doctors because they have more possibilities to do the diagnostics and find out which drugs are okay. It’s better for the healthcare system because you do not treat patients with drugs that don’t work. The drug efficacy will be better. It’s very fulfilling to work on this. It’s a story of doing good things together. And we need everybody aiming for the same goal, we need the clinicians, we need the patients and organisations, we need hospitals and regulators for this.”

“If it’s standard that your data, your diagnostic data, your genetic data, and your clinical data are put into the database, then you have a very powerful instrument to see all 40,000 patients with metastatic cancer in the Netherlands, we can see the treatments and also the success rates of treatments. If we have that 40,000 every year in our database, it would also be much easier to compare to others. For example, if someone comes to the hospital with an unknown primary we could check to see if there is anybody else who has the same type of tumour or characteristics of the tumour. This, in turn, will improve the treatment options for cancers.”

You can find out more about Hartwig Medical Foundation by visiting www.hartwigmedicalfoundation.nl/en/

www.samebutdifferentcic.org.uk

71

5 QUESTIONS

Meliz, photographed by Ceridwen Hughes for Same but Different’s Beauty of Rare project

1

5

How old were you when you got diagnosed?

I was diagnosed pretty late, at 3 years old.

My mum said I used to cry a lot when I was younger and there was never really a reason.

I then started to get jaundiced and my eyes and skin started to go yellow. It was then that I was diagnosed.

2

How has your life changed since?

Every 3 weeks, I have to have a transfusion of 3 units of red blood cells.

Because of the excess blood, and the excess iron in the blood, I need to then have regular medication to get the iron out of my system.

72

QUESTIONS

4

WITH

Meliz

Because of the transfusions it is recommended that I keep my iron intake low so I don’t eat too many foods that naturally are high in iron, like watermelon, spinach and broccoli. I have also been told that it might help to drink black tea when I eat meals as it reduces iron absorption.

Meliz has Beta Thalassaemia Major, a blood disorder that reduces the production of hemoglobin.

3

Have any organisations been supportive on your journey?

UKTS have given me a lot of support. Recently they had a conference and it was really great because there are other Thalassaemia sufferers at the event. It is really important to have that relationship, those connections with other people because it’s reassuring and you learn about the latest treatments.

What advice do you have for others diagnosed with your condition?

5

What do you hope to achieve?

Awareness is so important. I think this project that you’ve created is fantastic.

You can find out more about Meliz on our website.

DIRECTORY

Find out more DAYS OF RARE About the project: www.samebutdifferentcic.org.uk/michelleh MyAware: www.myaware.org/

BEAUTY OF RARE About the project: www.samebutdifferentcic.org.uk/beauty-of-rare Ehlers-Danlos Support UK: www.ehlers-danlos.org/

THE ART OF COURAGE Henry Fraser: www.henryfraserart.com/ @henryfraser0

JOURNEY OF HOPE About the project: www.samebutdifferentcic.org.uk/journeyofhope Full Flim: www.youtube.com/watch?v=BkzgAbPx6OM

AMSTERDAM GETAWAY Hotel Casa: www.hotelcasa.nl/ Dignita Hoftuin: www.eatwelldogood.nl/en/dignita-hoftuin/ Stedelijk Museum: www.stedelijk.nl/en

DYING MATTERS Same but Different Rare Navigator: www.samebutdifferentcic.org.uk/rarehub Marie Curie: www.mariecurie.org.uk/support

AGAINST ALL ODDS Kanker Netherlands: www.kanker.nl/

ADAPTIVE ESSENTIALS Unhidden Clothing: www.unhiddenclothing.com

THE FRAGILITY OF BEAUTY About the project: www.samebutdifferentcic.org.uk/hannah Ectodermal Dysplasia Society: www.edsociety.co.uk/

IN THE SPOTLIGHT About the project: www.samebutdifferentcic.org.uk/rarebeauty

PERSONALISED CANCER TREATMENT Hartwig Medical Foundation: www.hartwigmedicalfoundation.nl/en/

Supported by:

Media Partners:

www.samebutdifferentcic.org.uk

73

Connect with meaning and honesty

Find out more by visiting: www.sbdcreative.co.uk

We produce powerful films, strong imagery & compelling narrative; creating a visual storytelling experience that allows you to connect more closely with your audience.

We work with organisations, agencies and publications that love to make an impact. We can join as a creative partner and help shape the creative direction into an impactful photography campaign or film, or we can work to your brief.

Helping you connect to your audience with integrity.

Creativity. Collaboration. Empowerment.

74