Rare Disorders & Pushing for a Diagnosis
- A mom in Ireland was called a “drama queen” for worrying about her son; he was later diagnosed with a rare disorder called Ataxia-telangiectasia (A-T).
- According to the National Institute of Neurological Disorders and Stroke, Ataxia-telangiectasia is a “rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech.”
- It’s important to listen to your body and push for a correct diagnosis.
- Rare disorders are often best treated by a specialist at a major academic center and there are an increasing number of clinical trials attempting to develop new drugs for rare disorders
Jonatan has been living in pain since he was an infant due to this condition. Ataxia telangiectasia is rare, and it affects only one in 50,000 people.
Read MoreWhat is Ataxia-telangiectasis?
As a child, Jonatan suffered multiple respiratory infections.According to the National Institute of Neurological Disorders and Stroke, Ataxia-telangiectasia is a “rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech.”
The early signs of this disorder are unsteady walking and also slurred speech; these signs usually present during the first five years of a child’s life.
There are currently no known cures for this disorder, and there are no ways to slow the progression of the disease. Some people diagnosed may undergo physical and occupational therapy as well as speech therapy. Some people diagnosed with this disease will live into their 50s.
Pushing for Answers
Safiak regularly took Jonatan to doctors as a child, reports New York Post. She begged them to help; her son, at times, wobbled unsteadily. Yet, his mother was called a “drama queen.”
It’s so important to listen to your intuition and to push for answers when it comes to getting a correct diagnosis.
Jonatan and his family saw over 40 doctors and medical professionals, and he was diagnosed with hyper-mobility joints. But Safiak knew something more was wrong.
"My gut was right," she says. "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."
Jonatan was finally diagnosed correctly in March 2022. "It's 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," Safiak says.
The diagnosis was delayed due to years of the medical community overlooking his symptoms or misdiagnosising them. His mother says, "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.”
Be Pushy, Be Your Own Advocate… Don't Settle
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