“I was born with a disability called Holt-Oram Syndrome. It affects the bones and muscles in my entire upper body and causes Congenital Heart Disease. Don’t worry if you haven’t heard of it, no-one has – even doctors. It’s really rare.”
This is the explanation that has unintentionally defined my life since I was diagnosed with a rare genetic disorder at the age of seven. A rehearsed statement that has to be delivered repeatedly in the hope of gaining acknowledgement, understanding and assistance. A disease is deemed ‘rare’ if it affects fewer than 1 in 2,000 people. Holt-Oram Syndrome affects 1 in 100,000. Worldwide, there are millions of individuals with equally rare and unusual conditions.
Pre-diagnosis there wasn’t a name for my genetic condition but after asking my parents if we would like to know the name it was eventually christened ‘Holt-Oram Syndrome’ It’s so rare and there has been so little research that this has caused issues with my care over the years. Holt-Oram isn’t the only misunderstood and under-researched condition, there are roughly 6000 other rare diseases, affecting an estimated 300 million people worldwide.
When someone asks me what’s wrong, or a more specific question: “why don’t you have any thumbs?”, “what are those scars?”, “why do you need an adapted car?” I feel sheer panic at having to explain Holt-Oram and how it affects me. Most people actually lose interest precisely 0.9 seconds after asking. I feel as if I’m on a very bizarre quiz show with a buzzer about to go off as I’m quickly stumbling over my words in order to provide you with the knowledge you require.
Trying to explain a rare condition to someone is a stressful challenge, but it’s even more difficult when requiring assistance. If I’m struggling to pack shopping into a bag, I’ll hear myself saying “I’m sorry, I’ve got really useless hands”. If I desperately need a seat on the train I’ll be trying to explain and apologise, “my spine is really wonky and painful” because it’s easier than giving a full medical description. I find myself apologising a lot, even though it isn’t my fault that I have a rare condition. If people haven’t heard of the condition they’re less likely to take me seriously. It’s hard enough explaining it to medical professionals, let alone the general public.
There are countless other medical conditions that are well known, such as Arthritis or Cerebral Palsy. Those with widely understood and researched conditions don’t experience the same barriers as people with rare diseases. Even if people don’t exactly know about these conditions they’re aware that they legitimately exist. When I require assistance, I often find it much easier to say “I have heart disease” as this is an illness that everyone is aware of and many are affected by. Something well-known is instantly acknowledged. I never feel the same need to apologise when explaining a condition like this.
What you can do
It is incredibly overwhelming to be aware of every single condition that exists – there’s thousands that I’ve never heard of. But, the point is that you don’t need to be a medical genius. It’s not about the condition that we have, it’s about the impact it has on us. Don’t ask personal questions if someone asks you for assistance. Just ask them how you can help and believe them when they tell you they need it. The more people respond like this, the less likely I will feel the need to justify needing assistance. It’s so important to acknowledge that there are millions of people worldwide living with these quirky and unique rare conditions.