THE SYSTEM IS BROKEN..
Mum urges HSE to fund clinic trips for son with rare disease
A MUM whose son suffers from a rare degenerative disease has pleaded with the HSE to help the family access the help they need.
Aneta Safiak has spent years fighting for a diagnosis and now she said her boy is being denied vital supports due to red tape.
Jonatan, 14, lives with ataxia telangiectasia, a rare neurological disorder that affects the part of the brain controlling motor movement.
The teen, who was born in Ireland to Polish parents and lives in Longford with his family, was not correctly diagnosed until he was 12 years old.
He was seen at a specialist clinic in Nottingham, UK, last year under the treatment abroad scheme but the family has been refused funding under the same scheme for 2024.
Aneta, 47, told the Irish Sunday Mirror: “We went to the UK not for treatment, because there is no treatment, but for managing the symptoms.
DIAGNOSIS
“One specialist told us they usually see patients every two years but with Jonatan’s bumpy road and late diagnosis he said he should be seen yearly.
“He was 12 when he was diagnosed which is nearly unheard of, 95% of children are diagnosed before they are five.”
Aneta has been battling for a diagnosis since he was six months old and said she felt unheard for much of his early life.
She said: “They thought it was autism, then we got a diagnosis of hyper-mobility joints, then Friedricks Ataxia, but I knew it was not right, there was more to it.
“They said it would get better as he got older, but Jonatan was seven, eight, then nine, I was like when is this going to kick in?
“He was just very wobbly. His favourite film character is Jack Sparrow and that’s the way he walks, a swinging, dancing sort of walk.
“During lockdown I started to notice that he was falling down a lot so I got another assessment and insisted he get a fresh diagnosis.”
Jonatan was finally diagnosed with AT in March 2022.
Those affected have a life expectancy between 19 and 25 years.
Aneta said: “Jonatan has lost his appointment for February with the team in Nottingham because they said the treatment abroad scheme doesn’t apply.
“I know Jonatan is not going to get better, but that visit is to prevent him from getting worse and help with the symptoms. This is like motor neurone
This is like motor neurone disease, it’s the same but in children. My son is only 14
disease, it’s the same but in children.
“It gradually takes everything away from you, your ability to walk, to talk, to swallow, to move your eyes.
“My son is only 14... If we go private it’s over eight thousand pounds sterling so that’s not an option.”
Jonatan has two younger sisters aged seven and four.
His dad works as an office manager for an environmental company but Aneta said the family cannot afford to pay for a private visit to the clinic in
Nottingham. A spokesman for the HSE said it cannot comment on individual cases.
Aneta has also tried contacting Health Minister Stephen Donnelly in the hope that he can help her.
She said: “Everything we need is in the UK.
“I just can’t go through this each year, it is madness what they are putting me through.
“Before his diagnosis Jonatan would have been given blocks of therapy sessions. That is all SEEKING HELP Health Minister Stephen Donnelly stopped now. I am given a print out of exercises and told to do them at home. “There is no support for us, the system is completely broken. “They could not diagnose him for 12 years and now they say they have the expertise to manage him here? “I tried contacting Stephen Donnelly many times. I beg for 15 minutes of his time – no, nothing, zero.” Mr Donnelly’s department was contacted for comment but failed to reply.