Man with ultra-rare disease backs awareness campaign  

David Rose from Soham is the only person in the UK living with ultra-rare disease Occipital Horn Syndrome. 

David Rose from Soham is the only person in the UK living with ultra-rare disease Occipital Horn Syndrome. - Credit: I am number 17 

The only person living with one of the country’s rarest diseases says he’s “never lived a day without pain” and that “no one will ever help me”.   

David Rose of Soham was a child when he was diagnosed with Occipital Horn Syndrome, an ultra-rare disease effecting his heart, kidney, bladder, bowel and entire muscular-skeletal system.  

Mr Rose is the only person in the UK living with the disease and has spent most of his life in and out of hospital.   

“I’ve never lived a day without pain. The disease affects every aspect of my life. Musculoskeletal impact is a massive thing,” he says.   

“Joint pain also has a big impact and from my early 20s it has been more severe – anything from typing to using my phone is painful.  

“When I was growing up, I didn’t start puberty until I was 15, and had to be induced with hormones. Looking back now, this was something that was probably linked to my rare disease.  

“I’ve been self-catheterising since I was 7, so that’s 23 years now. I had my kidney removed 8 or 9 years ago, when I was at university as the function declined.   

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“I always have bladder or kidney infection and am resistant to pretty much all antibiotics. The older I get, the more of a problem this is.”   

When Mr Rose was in his early 20s, he suffered a mental health breakdown after being forced out of his “good job” due to his disease.   

Explaining to the campaign’s website he says: “I had a mental health breakdown and at the time most of my friends were successful and I suppose I knew deep down that would never be me.   

“I’ll be able to achieve some of those milestones, but I’ll be 10 years later because it’s hard to work with a rare disease. I’ve had to change my job so many times.   

“With regards to people with rare diseases, it feels like everyone likes to talk about us, but no one really wants to help us.   

“Lots of companies have this blue tick scheme which means they’re disability friendly, I think it’s a tick boxing, token exercise.”  

Mr Rose hopes to raise awareness of rare diseases and inform more people about how he has to live as part of a new online campaign ‘I am number 17’.   

I am number 17 is a campaign "to help the voices of those with a rare disease be heard.”  

Mr Rose told the campaign: “When you have a rare disease, it affects you differently day-to-day. People with rare diseases get pushed aside out of work, into a rare disease bubble.   

“The media is another issue. If some outlets wrote an article about me, they would write an atrocious headline.   

“So even if rare disease is in mainstream media, it’s very rare to be a good article. The main problem in rare disease in literature is the hyperbolic literature and over the top language.   

“There are definitely opportunities for rare disease patients to educate the media. Career wise, Great Ormond Street Hospital has got me to where I am today.   

“They were the steppingstone for me to realise I needed to speak out and I learnt the public speaking. They were also the steppingstone to working in rare disease.   

“I am always aware of being ill. Before my breakdown I had the realisation that my illness is always there and not going away.   

“It’s going to get worse and worse, it’s too late for gene therapy, and there’s no knowledge about it. I take pain killers and they don’t do anything.   

“My life expectancy is 40-50, I’m not going to be 90 in a Zimmer frame.   

“People don’t understand how rare my disease actually is.   

“Initially I found it funny, being the only one in the country with my rare disease, but now I’m more exposed to rare diseases, it makes me realise that no one will ever help me.   

“I see every medical department you can think of, 13 metabolic medicine people are in one room examining me.   

“Lots of people don’t want medical students in the room, but in my case, it’s the only way more junior doctors are going to learn about my condition.   

“If you want long term, chronic treatment you should be educating the younger generation.”  

To learn more about the campaign, visit: iamnumber17.geneticalliance.org.uk

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