WHEN JAMIE O’BRIEN was eight years old, his teachers believed him to be a lazy student.
He would not write more than one sentence at a time but it wasn’t ineptitude slowing him down. It was pain. Without him knowing what was happening, his fingers were actually dislocating every time he put pencil to paper.
Jamie is now 22, a student who suffers from the incredibly rare disease called Ehler-Danlos Syndrome Type Three which affects just one in every 15,000 people.
It means that several times a day, his joints will dislocate. The slightest movement or exertion triggers one (or more) to pop out. Lifting something very small will put out his wrists, while climbing a stairs will dislocate his knees or ankles.
Although he is now able to put the majority of joints back in place himself, he has trouble with his left shoulder so needs to visit his local hospital in Drogheda regularly  - usually every seven to 10 days.
“It’s difficult but it’s better than it was before. I used to spend days upon days lying in the bed, not being able to move, not being able to cough,” he says.
As there is a leading neuro-musculoskeletal hospital in the UK, the Louth native was initially approved for treatment under the Treatment Abroad Scheme (TAS). Two leading Irish consultants had signed off on the plan.
But it never happened.
Jamie was told three days before travelling that his application had been rejected. Despite the bad news, he and his family decided to visit the centre in Stanford and held the initial consultation without the help or funding of the Health Service Executive (HSE). They hoped the agency would eventually release the funds for the next stages but it did not happen. Jamie came home.
I actually cried. I saw myself getting over there, I saw myself getting treated and it was just shut down in front of me.
“I am literally looking for help. I have gotten to the point where I just deal with it. Everybody in the world goes through their own tough things and with me, I’ve just learned to smile through the pain, just crack it in and keep walking but I can’t do it anymore.”
The Rare Disease Taskforce in Ireland has called on the HSE to clarify its position in relation to the TAS in relation to Jamie.
“To see individuals like Jamie cannot get the treatment they so dearly need is unacceptable,” said chairperson of the group Philip Watt.
“People with a rare disease need access to expertise and treatment regardless of which European country it happens to reside in. There are patients in Ireland today who know that their condition can be diagnosed or treated elsewhere.”
This is now a matter of urgency, he continued.
Having a rare disease is not rare
Watt told the TheJournal.ie that the public should realise having a rare disease is not rare. One in 12 people in Ireland will have a rare disease at some point in their lifetimes.
“There has been insufficient focus on rare diseases in Ireland but the Government now has an important opportunity to put that right with an imminent EU plan which could see more cooperation among countries.”
He said that as the UK is our nearest neighbour, and the most convenient, cooperation levels should be increased as it is currently not at an adequate level.
“It makes sense for some patients to be treated where the expertise is. The lack of access boils down to a number of factors, including money, lack of awareness and lack of cooperation.”
There are also issues around early diagnosis, another area that needs to be prioritised along with access to specialist centres, the availability of new and innovative drugs and extensive research by pharma companies.
Jamie started suffering from his disorder when he was eight years old but did not get diagnosed until he was 16. He says the biggest challenge during those years was to get people to believe there was something wrong.
“I didn’t even believe it myself,” he added.
“It is heartbreaking to hear stories like Jamie’s,” concluded Watt. “And see the difficulty that so many people with rare diseases have with even being diagnosed in the first place.
HSE response
In a statement to TheJournal.ie, the HSE said it was not the function of the agency to “endorse” treatments. That is the role of the referring consultant.
The TAS is not a budget-capped scheme but rather it is operated within EU legislation.
“If an applicant is not satisfied with the outcome of their application they are given an opportunity to have that decision reviewed under the appeal process.”
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