We spoke to Alan Thomas, founder of Ataxia and me, a charity who aims to raise awareness of Ataxia in Wales, the UK and around the world.
He shares his experience of his own diagnosis, the information available and difficulties around accessing medical specialists. Alan advises the importance of a support network and how the wider population can support the rare diseases community.
Find out what he had to say.
What is Ataxia?
I’ve suffered from a rare disease ataxia for a number of years now, it is a rare condition that affects the cerebellum in the brain. That affects balance, speech and coordination.
I was diagnosed at the age of 23 and I knew there was something wrong with me, but couldn’t really determine what it was. It took nine years to get a proper diagnosis because of how rare it is.
“I noticed there were a lot of charities out there focusing on the medical things rather than the actual patient, which seems a bit wrong.”
With Ataxia there is a delay between your brain thinking about doing something, and the muscles actually moving as it goes through the cerebellum. A bit like a car, the engine is trying to make the wheels work but the gearbox is faulty.
The condition degenerates very slowly, over time. After a couple of years, I realised that you need the patient’s voice to come across and make people more aware of the condition. So I started a charity that raises awareness of the condition from a patient’s point of view.
I noticed there were a lot of charities out there focusing on the medical things rather than the actual patient, which seems a bit wrong. The patients do share their opinions, but not enough. So I was determined to put the patient right at the front, and make sure to have a voice.
Challenges faced along the way
There’s often a lot of talk around the medical side of things, and the professionals speak in a way that they think everyone understands, but a lot of patients don’t. We don’t want to be spoken to in a corporate way, we need to know exactly what it means in plain language.
When I was diagnosed, the only way to find support was to trawl through “Dr. Google”, and of course you get the good things and the bad things. It was just taking lots of time to go through all the information to find out what the right avenue was to go.
I noticed that every other patient had to do the same and I thought why don’t I look at the information, gather it all together, and then share it with other patients. So they haven’t got to go through the same thing.
I’ve gotten feedback from one patient who said “That has saved me so much time, and I’ve got a better quality of life, because of it. I don’t have to worry about spending hours and hours looking for information.” And I just think if I have helped one person, I am surely helping others.
Awareness and access to information
What needs to get out there is the awareness of the condition or any condition, especially more rare conditions and needs something like Sondra is doing with RCNet, a platform where people can actually communicate with each other.
Information shouldn’t be hidden behind barriers like paywalls, we shouldn’t have to worry about what we can and can’t see. You shouldn’t have to pay for information about the condition you or a loved one has.
A big issue on top of this can be the distance to specialists and clinics. Take me for example, I live in Wales but my clinic for Ataxia is up in Sheffield which is 5.5 hours away by train. That means I have to travel up the day before the appointment, and then travel back the day after.
If you can imagine this can cost quite a lot, so then if you are having to pay for information as well it can start to mount up.
Focus on quality of life
My advice to newly diagnosed people would be to speak to other patients that you might find. As well as a medical professional’s opinion, you need to listen to a patient with real life experience.
Ultimately, a cure won’t happen tomorrow or next week. It could be years. You’ve got to live between now and then. It’s about having the best possible life today.
Find out more
To help the rare disease community people can look to be more understanding, listen and not be quick to assume. Take time to understand and have empathy.
If you want to find out more check out the Ataxia and me website.
If you want to find out more about Rareqol and the initiatives we are involved in then please reach out to us.