I was called a drama queen for worrying about my boy – now he's living on borrowed time | The Sun01/02/2023
WHEN little Jonatan Safiak was just four-months-old, he started to become unwell.
The little boy was struggling with respiratory infections, even suffering a collapsed lung at one point.
By his second birthday, his worried mum Aneta Safiak said he was wobbling around like he was "drunk".
The 45-year-old took her son from doctor to doctor, begging for help and answers to what was happening with her son – but claims they called her a "drama queen".
The mum's gut feeling was right as her son has now been diagnosed with ataxia-telangiectasis (AT) and has just years left to live.
A rare inherited condition, AT affects the nervous and immune system, and many others essential for bodily functions, the NHS states.
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Now the mum, from Longford, Ireland, said she's 'so angry' at the care her son has received.
She said: "We must have seen over 40 doctors, none of them could find an answer and many of them made me feel as if it was just in my head – calling me a 'drama queen'.
“At the time, I thought Jonatan might have had cerebral palsy or a brain tumour – it was so overwhelming.
“I was told to not look for problems where there aren’t any and to not overthink.
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"My gut was right."
Aneta, who lives with her husband and their three children, aged three, six and their eldest, Jonatan, 13, said she visited numerous specialists before her son was given a diagnosis of hyper-mobility joints, also known as being double-jointed.
She said: “Jonatan was constantly falling and weakness affected all parts of his life.
“I was told he shouldn’t attempt to learn how to write, but use assisted technology instead.
“I didn’t want that, so I worked hard with him at home and he managed, so he knows how to write now.
“One therapist pushed towards a dyspraxia diagnosis, but I didn’t accept this because I knew it wasn’t bringing us any step further to knowing the real problem.
“Others claimed the issue was skin-related due to swelling around his eyes.”
What is ataxia-telangiectasis (AT) and what are the 7 signs you need to know?
Ataxia-telangiectasia (AT) is a rarer type of hereditary ataxia, the NHS states.
Symptoms usually begin in early childhood, although they can sometimes develop later, medics say.
The main signs include:
- difficulty walking – most children need to use a wheelchair by 10 years of age
- increasingly slurred, slow and unclear speech (dysarthria)
- difficulty swallowing (dysphagia)
- small spider-like clusters of red blood vessels in the corner of their eyes and on their cheeks (telangiectasias)
- very slow eye movements, which may mean the person has to move their head a lot to compensate for this
- a weakened immune system – children with AT are more vulnerable to infections, particularly infections of the sinuses, lungs and airways, such as pneumonia
- an increased risk of cancer, particularly acute lymphoblastic leukaemia or lymphoma.
The NHS states that people with the condition usually live until the age of 19 to 25, although some may live into their 50s.
In March 2022, her son was finally diagnosed with AT.
While little is known about his disorder, it’s estimated that those diagnosed with it have a life expectancy between 19 and 25 years.
Aneta said that the condition is going to cause severe physical disability, as it’s deteriorative, and he’ll slowly lose the ability to talk and swallow, as well as being at high risk for different cancers.
“I had a nervous breakdown [upon learning about his diagnosis].
“This diagnosis has been at least 10 years delayed and has deprived my son from care and treatment he deserved, and it has taken a toll on his mental health.
“He also knows there’s no way of getting better," she added.
We’re trying to carry on as best we can and we'll keep pushing through this battle
Now, she's waiting to see if her other children are also carriers of the illness.
In a bid to give Jonatan the best life possible with the time he has got left, Aneta has set up a GoFundMe page.
The money will also go towards a trip to Australia, where there is a new medical trial being held relating to his condition.
Aneta added: “Hopefully, we will be able to get him on the medical trial which aims to help with the symptoms, especially neurological ones.
“I’m thinking of maybe taking him to Los Angeles and waiting outside Johnny Depp’s house, as he loves Captain Jack Sparrow.
“He is a child like no other and ever since he saw the first Pirates of the Caribbean movie, he has developed a coping mechanism.
“Jonatan says he walks just like Jack because he loves him so much.
“He hasn’t had any negative comments made towards him, but he has been called a ‘mutant’ by a coward online before.
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“We’re trying to carry on as best we can and we'll keep pushing through this battle.
"But I want to share our story to tell other parents – always trust your gut feeling," she added.
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