By Daval Amratlal

Hi, it’s me, Daval, and I live with autosomal recessive epidermolysis bullosa simplex. Six days after I was born, there was a blister on my left foot, which then eventually spread to the rest of my body. The doctors didn’t know what it was and kept me in hospital for three months. From what my parents have told me, I was in constant pain and couldn’t stop crying. I was eventually discharged and went to live with the rest of my family in India for four years. During this time, I couldn’t go to school as there would have been no support, and my parents feared for my safety. The heat definitely didn’t help with the blisters. In 1999, we moved to the UK and at Great Ormond Street Hospital (GOSH), I was diagnosed as having autosomal recessive epidermolysis bullosa simplex, a rare skin condition. In my case, it’s so rare that only ten people (including me) in the world (and the universe) have it! It took five years to diagnose this skin condition. During the four years in India, my family, especially my mother, moved heaven and earth to try and find a cure: seeing different doctors, priests/gurus and holding ceremonies, unknown to them that EB isn’t curable. My mother was my superhero, and I was the world she was constantly saving.

Because I didn’t go to school in India, I missed out on the early years period and started straight at Year 2 at a special educational needs (SEN) primary school called Grove Park School. I still remember my first teacher, Mary, she was very kind, and I hope she’s doing well. I’d love to tell her how far I’ve come since then. Due to my parents not being able to drive, I travelled on school transport, a minibus, to and from school every day. This was also the first time I made friends. There are old photo albums I have where we’re having parties in class and going to school trips such as to the fire station. Because the other children also had special educational needs, they didn’t care about the blisters, and were happy for us to be friends. I was only at that school for one year and my parents found another school closer named John Chilton School. At this new school and class, the staff and the children warmly welcomed me, and I had no trouble making friends; I still keep in touch with them today.

After primary school is of course high school. Luckily, my high school was in the same building as my primary school (huge building!), so I still made the daily journey via the school minibus, and I still had access to support workers. During the five years of high school, I didn’t really make many new friends. I still had my friends from primary school who also went to the same high school.

On a school day, I had to wake up, burst blisters, do dressings, go to school, and come home. If the blisters were bad, I would burst blisters in the nurse’s office. I always took my wheelchair with me in case my feet turned bad to the point where I couldn’t walk. Because of the blisters on my hands, I couldn’t have a self-propelled wheelchair, so I had a wheelchair where someone had to push me. This wasn’t the best for my freedom. Eventually, the John Chilton School physio department gave me an indoor electric wheelchair which was later upgraded to an outdoor version in high school. Currently, I use a self-propelled wheelchair that is very light and foldable which I bought myself (I wish I had known about DEBRA UK grants!). To minimise my hands getting blisters, I use special gloves. Over the years, my hands have gotten used to self-wheeling.

After high school was sixth form where, for the first time, I didn’t have any support assistants but thankfully there was support if I needed it. The process was largely the same as primary/high school, so let’s skip to the end of sixth form. Unfortunately, a week after sixth form finished, my mother passed away from cancer. This drove me to achieve the best I could in life. At this point, I wanted to be a physicist. Luckily this involves my brain and not my body. As I write, I currently hold an undergraduate degree in Physics with Space Science and will soon complete a Master’s in Planetary Science and have also been involved in the discovery of a planetary system!

At UCL, I’m raising awareness of EB within the physics department to make the course and campus accessible to future EB students, as well as to medical students so they can keep rare diseases in mind when with a patient. I’m also an Ambassador for Medics 4 Rare Disease.

University has also allowed me to partake in activities which I had never done before such as karting. Although this is a sport that’s done sitting down, it hurt my hands and the side of my body. Despite this, I ended up representing the University of Leicester nationally in the British Universities Karting Championship. Moreover, the friends I made in the karting society are amazing and have been very supportive.

Now that my education career is coming to an end (for now), applying for jobs can be difficult as I’ve had to turn down jobs that are too physical for me, such as the Mobile Planetarium. I did however work as a science presenter for young children before my Master’s. This was fun but it came with its challenges. I had to lift heavy boxes of equipment, set up, do the presentation whilst standing and then pack up. This was especially challenging when my hands and feet hurt. Thankfully, the office was understanding and found an alternative presenter to cover my shift if I was in a lot of pain.

I feel that I’m at a point in life where I can make some change and help others through my experience. I contacted DEBRA UK last year to see how I could help raise awareness of EB. I attended Members’ Weekend where I met DEBRA UK staff in person and was invited to the House of Lords to lobby politicians to fund for treatments. Furthermore, I was also invited to a lunch hosted by HRH The Duchess of Edinburgh. Another aspect of DEBRA UK that I have been involved with is the Education Pathway. I have talked about my experiences with the education system to parents of children with EB, and the kind of support I have received, reassuring them that it gets better as time goes on. All of these opportunities have been through the DEBRA UK Involvement Network.

There have been many challenges in life, but I’m thankful that my mind is strong and resilient and has so far weathered the storms that life has had to offer. Smooth seas don’t make good sailors. This may sound strange, but if there was a treatment for EB tomorrow, I wouldn’t take it. EB has shaped me into the person I am today, having been subjected to life experiences that I never would have undergone, pursuing an amazing career that I otherwise would not have, and known some amazing, beautiful people. The number of ways of assembling genes is far greater than the number of people that ever lived. Out of the trillions of ways my genes would have been put together, I’m glad that my combination exists.

 

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We are grateful to Daval for sharing his EB story; he is an inspiration to us all and to the EB community, and reminds us to always strive towards our goals, no matter what. Sharing stories is critical to our work, they raise awareness of EB and DEBRA UK with the public, and allow us to share experiences, triumphs, challenges within the EB community, to help others live better with EB.

If you or someone you know lives with EB, find out more about our Education Pathway a resource for educational settings to learn more about and better understand EB.

If you are a DEBRA UK member, you can also sign up to our Involvement Network and help put our members’ voices at the heart of everything we do. Whether that’s helping to shape our EB services or deciding what research to fund.

 

Sign up to our Involvement Network