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Why we need to start talking about rare diseases

Today is Rare Disease Day. It’s a day we need to be talking about, because rare diseases affect many people – with over 6,000 existing conditions, and up to 30 million people diagnosed around the world. One of the people it affects is our co-founder (and my little sister) Katie. It’s also a topic close to our hearts, as she was diagnosed with osteochondritis dissecans in 1995. Ahead of Rare Disease Day, I sat down with her to chat about her experience.

Which rare disease have you been diagnosed with, and how is it treated?

When I was 15, I was diagnosed with osteochondritis dissecans, a bone condition of the ankles. Back then it was classified as a rare disease, but it seems to be more frequently diagnosed these days. I had never heard of my condition before I was told that I had it. I didn’t know anyone else with it either.

After my initial diagnosis, I think I saw 17 consultants over a 5 year period. A lot of the treatment I had actually made the problem worse. This isn’t a criticism of individual doctors, it was more a symptom of having a rare condition – sometimes my family doctor or consultant had never seen my disease either, so we were both going through it for the first time.

Consultants were used to seeing much older patients with conditions like mine, so they were reluctant to operate because of my age. I was continually referred, and bounced around the healthcare system, which was so frustrating. I moved in and out of primary and secondary care. Back in the days before electronic notes, this often meant re-starting my story from the very beginning in each appointment. That becomes pretty soul destroying after the 17th time.

Eventually I met an expert in Bristol who was able to help. After some major surgeries, I was discharged at the age of 21. My life improved from that day on.

How did having a rare disease affect your life?

The impact felt massive at the time. All I wanted to do back then was sport – play it, and have a future working in it. Having been told that I could end up in a wheelchair in my 20s, I was informed that I would never be able to play sport again. My life changed overnight. I watched my team mates continue into their A-levels. I had a lot of pain, spent time on crutches and stopped caring about school. It would have been a lot for anyone to go through, but being diagnosed as a teenager, and having to accept that my future would have to be very different to what I had imagined, was hard to take.

My diagnosis also left me feeling very isolated. One of the hardest things about being treated for a bone disease in your teens was that a lot of the relevant medical expertise back then was in orthopaedics, which was mostly focused on geriatric care. Being a teenager in the geriatric pathway isn’t easy. People often didn’t know where to place me, or how to treat me. This meant that I received a lot of treatment for problems that resulted from my condition, as there were no therapies for the problem itself. These included a pain management clinic. Hypnosis. Psychiatry. Counselling.

This all contributed to the feeling that no one else understood what I was going through. It made me feel like I was completely out of place, and because social media was still in its infancy, I couldn’t look to the internet for help. One of the silver linings of being diagnosed with a rare disease today is that you’re able to find other people in the same boat online who can empathise and support you through your condition.

What has been the long-term impact?

Being diagnosed and undergoing several surgeries has made me aware of my limitations. When I got discharged, I was told I should never do sport where you make unpredictable body movements, like netball. Over the years I have managed to build up to playing more sport, and I now play netball every week. I’ve also managed to complete 5 marathons, which is something 15-year-old me would never have believed I could do. There’s a chance I may need more surgery in the future, so my philosophy is to do as much as I can now, rather than be overly cautious and regret it when it’s no longer an option.

Why do you think Rare Disease Day is important?

It’s crucial we bring awareness to rare diseases, because these conditions have a real and lasting impact on the people who are diagnosed with them, as well as their loved ones. People who get diagnosed with a rare disease can often feel incredibly alone. They might never have heard of the disease itself. There might be no one else with it at their school, town or even country.

You know there is something wrong. But what if your doctor has never seen or heard of your condition before? Many people get misdiagnosed, and this delay in getting effective treatment can result in disease progression, worsening symptoms and mental health problems.

The more we know about rare diseases, and the more research that is done to find treatments for them, the better. And the more people that share their experiences and help support others with the same condition, the happier we’ll all be. That, for me, is what Rare Disease Day is all about.

If you’d like to find out more about Rare Disease Day, head to their website here.


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