- This topic has 0 replies, 1 voice, and was last updated 6 months, 3 weeks ago by
.
-
To say Dylan Lombard has a rare disease is a bit of an understatement. The 21-year-old from Glasgow became the 13th person in the world with mandibular dysplasia with deafness and progeroid features – otherwise known as MDP syndrome – when he was diagnosed as a boy.
The rare genetic disorder, caused by a mutation in the POLD1 gene, is characterised by a distinctive facial appearance, deafness, and signs of premature ageing due to the inability to store fat under the skin.
“The main challenge is the lack of body fat meaning I’m not strong physically,” he told The i Paper. “I can’t do any physical activities. I can get a lot of cramps in my arms and legs. Most of the time I’m trying to drink a lot of water, because that really helps the muscles.
“I have to go to sleep with my eyes open, which means I’m way more tired, and they can get dry really quickly. I lost all my hearing when I was 3 as well. I can’t have my own biological children and I am more likely to develop diabetes. Nor can I close my eyes, which means they get sore and are prone to infections.”
Diagnosed at 10
A chance viewing of a news story led to Dylan’s diagnosis at the age of 10. While at work having lunch at her computer and watching the news, his mum, Nancy, saw a cyclist who looked remarkably like her son. At first, she thought it was Dylan but then realised that was impossible as this man was in his mid-twenties.
Nancy, 48, spoke to a geneticist at the University of Exeter and told them to look at the website featuring the cyclist, which was the Paralympian Tom Staniford. The geneticist rang back and said they would test Dylan’s DNA from the years of blood tests. Three weeks later the family were told Dylan, then 10, had the same disease. Dylan and Tom are the only two people in the UK who have MDP syndrome with just 16 people now believed to be living with it worldwide.
Despite the immense physical challenges, Dylan studied photography at the City of Glasgow College for three-and-a-half years and is currently part of a dance tour across the UK with the National Youth Dance Company Scotland. Both photography and dance have enabled him to engage with the world.
“Last weekend, I was performing in Leeds and next month I’ll be at the Edinburgh Fringe,” he smiled.
“And the photography has really helped me tell my story. I hope it has really helped others who have struggled to reach out to people. I want to help others who don’t have a passion to share. And I feel very lucky and grateful to have found a passion really early in life.”
‘I wanted to show people how I see the world’
“Photography has given me lots of opportunities to meet other people. It has helped me to meet other photographers and be inspired by people who have been in the business for so many years. It’s something you can create memories and share with people. You can make a career out of it as well… which I’m really hoping to do.”
Dylan also has a large social media presence accumulating 2 million followers across Instagram, TikTok and Facebook while sharing his passions and detailing his life story.
Dylan with fellow I am Number 17 campaigners as they handed an open letter to No 10 Downing Street this month, calling on the four UK governments to re-commit to a national framework for rare diseases beyond 2026 “I wanted to show people how I saw the world. And then I started posting dance videos. It has been both a negative and positive experience. There are some really nice comments and then there’s not so nice comments. At first, the negative comments did get to me a bit as I couldn’t understand why they were saying these things.
“Sometimes I’ve felt like messaging them back, but then you think it might escalate and get out of hand… sometimes it can be quite personal when you really do want to say something. Other times it might just be a nasty comment about the photo or video.
“At times I didn’t really want to post, but then I thought I’m posting things because I want to and it’s something I love and have a passion for. I thought if I keep creating content there’ll be more and more people getting involved. Since then, I think there’s been a lot more positive feedback.
‘I’ve made connections across the world’
“I’ve made connections with people all over the world and that’s what’s great about social media. It’s just amazing that they can be so far away and be in touch.”
After joining a Facebook group of people with MDP syndrome Nancy suggested they meet up with one, which took the pair to Norway.
“We were going there for a family holiday anyway and by chance someone with MDP in their twenties lived there,” Dylan said. “It was really emotional to meet them at first, but being able to see someone really similar to me and talk about their experiences, how they overcame challenges, that was really interesting. He was living a full and successful life and that gave me hope for my own future.
“We’d share similar stories about how difficult it was making friends at school. He had such a hard time and was hospitalised for about seven years, but we also spoke about how we both found something to stay positive and move forwards. It was a great moment and a memory that will stay with me.”
As well as a lot of volunteer work, Dylan supports and raises money for a number of charities, particularly those that are less well known. He has also joined a campaign called I am Number 17 – to highlight the 1 in 17 people in the UK who have a rare disease: some four million people. Although individually rare, these conditions collectively affect a significant portion of the population.
New research from the campaign, now in its third year, has revealed those affected often feel invisible to the outside world and that rare diseases profoundly impact individuals and families, creating emotional, financial and logistical challenges.
A survey of 546 adults affected by a rare disease for the campaign showed that 92 per cent experienced lifestyle changes related to their rare disease, including 29 per cent who reported family caregiving responsibilities interfering with work, nursery, or school on a weekly basis and a third of respondents having to reduce work hours or stop working entirely.
‘Change is always needed’
“It’s great to be a part of the campaign as I’ve always had a passion at raising awareness. I’ve always had a passion for helping charities and people with rare diseases,” said Dylan, who joined fellow campaigners and Tory MP Mims Davies as they handed a letter to No 10 Downing Street this month.
The letter calls on the Government, along with the devolved administrations, to re-commit to a national framework for rare diseases beyond 2026. While the current framework has been a positive step, the campaigners stress that more is needed to improve access to care, speed up diagnosis and support those living with a rare disease, their loved ones and carers.
Dylan said: “Change is always needed as a lot of the time I feel that not much gets down. A lot of the time people with rare diseases are overlooked, people have lots of stories to tell and it often doesn’t get out there. But by sending that letter and getting out there we can really make a difference. Hopefully the Government takes what we’ve said on board and changes can happen.”
For further information about rare diseases and the I am number 17 campaign, initiated and funded by Takeda, please visit iamnumber17.org.uk
- You must be logged in to reply to this topic.
