Today is Rare Disease Day, an international day that aims to increase awareness of conditions that affect relatively small numbers of people. People with many different rare conditions have posted their experiences and stories online to help promote understanding both of the many different conditions – there are over six thousand of them – and of the additional challenges facing people with rarely seen diseases.
Many people think Tourettes is a rare condition but actually it isn’t. It’s estimated that as many as one in a hundred people have it, though often the symptoms are quite mild. Rare conditions in contrast are classified as affecting no more than one person in two thousand.
I sometimes feel frustrated at what seems like a lack of research into Tourettes and I’ve often thought it might be because it doesn’t affect a large enough number of people. This frustration must be felt even more keenly by people with rare conditions. Here are some of the moving and thought-provoking messages I’ve read as part of today’s campaign:
‘If you see a child with an abnormality at the playground please don’t pull your children away from him in fear. This may be the first time in days he’s been able to go there and play with his brothers. I know the unknown is strange and scary, we deal with it every day! But please believe his mother when she say’s it’s not chickenpox. If she says it’s not contagious. There’s no reason to fear him. What you don’t see is his daily battle to just lead a normal life. A life full of joy and having to overcome many hurdles! But as special as he is, he’s not all that different from you. So please ask us about his rare disease, we’re happy to teach you anything you’d like to know.’
Mother of Louis a child with Cryopyrin-Associated Periodic Syndrome
‘The diagnosis of EOE is often delayed – sometimes for years because of lack of awareness about the disease. Doctors don’t know what to do about the pain because the research hasn’t come that far yet.’
Samantha a person with Eosinophilic Esophagitis
‘It’s heartbreaking to see that he has to struggle but it’s inspiring that he doesn’t give up.’
Father of Matthew a child with Alternating Hemiplegia of Childhood
‘You are not alone we are here together. We are visible and our voice is strong.’
Linda Burke and mother of children with Atypical HUS
‘When we got the bad news that I was one day going to get Huntingdon’s disease like my dad I felt very sorry for my mum because I’m an only child and her husband was already in the late stages of the disease….I recognise there is still a lot of good years to be had in my life and I shouldn’t waste those years … Huntingdon’s effects me day to day mainly through mentally coping I have my good days and bad days like anybody. I try and get more good day’s than bad day’s and do as many positive things to help the Huntingdon’s community as I can.’
Matthew Ellison founder of Huntingdon’s Disease Youth Organization
This year’s Rare Diseases Day is focusing on solidarity and I’m writing in solidarity with all those who have one of these conditions. It’s very powerful to see people acting together to promote understanding and encourage action.