After a decade of being hailed as a “drama queen” as her son suffered from debilitating symptoms, the mum shared a heartbreaking moment when she was told her teenage son only had years to live.
Aneta Safiak recently discovered that her eldest son Jonatan, 13, suffers from ataxia telangiectasia as he was diagnosed with a rare disease — which only affects one person in 50,000 — after living with excruciating pain since he was a number of months old.
“I’m so offended,” said Safiak, 45, from Ireland. “We needed to see over 40 doctors, none of them could find the reply, and plenty of of them made me feel prefer it was only in my head.”
AT is an inherited disorder that affects the nervous and immune systems, in addition to many other vital functions of the body. Little is understood in regards to the disease, and the estimated life expectancy is nineteen to 25 years National Institute of Health.
Safiak, who had a tragic miscarriage in 2015, has two more children along with her husband, aged 3 and 6, and mentions that Jonathan suffered from respiratory infections from an early age. (She asked that the names of her other children and spouse be withheld for privacy reasons.)
Meanwhile, the devastated mum says she spent most of Jonathan’s formative years taking him to doctors, begging them for help – noting that at one point he even had a collapsed lung and staggered as if he was “drunk” – but was still allegedly called “drama queen” “
“On the time, I thought Jonathan may need had cerebral palsy or a brain tumor – it was so overwhelming,” the mom told NeedToKnow.Online. “I was told to not search for problems where there are none and never to think an excessive amount of.”
![Jonaton was diagnosed with a rare disease in 2022.](https://nypost.com/wp-content/uploads/sites/2/2023/01/drama-queen-son-230102-92.jpg?w=1024)
![AT has an estimated life expectancy of 19-25 years.](https://nypost.com/wp-content/uploads/sites/2/2023/01/drama-queen-son-230102-98.jpg?w=798)
After visiting greater than 40 doctors and various other health professionals – including pediatricians, ophthalmologists, surgeons and therapists – Safiak says Jonathan was diagnosed with hypermobility of the joints or double joints, while others insisted it was related to the skin attributable to puffiness around his eyes.
Nevertheless, she says she knew they weren’t the actual reason for his illness.
“My hunch was right,” the caretaker added. “One therapist was pushing for a diagnosis of dyspraxia, but I didn’t accept it because I knew it didn’t get us any closer to knowing the actual problem.”
In accordance with Safiak, Jonathan was continually failing and weakness affected all parts of his life, and he was told he shouldn’t attempt to learn to jot down – which his determined mum refused.
“I didn’t want that, so I worked hard at home with him and he made it, so now he knows learn how to write,” she said.
![He began suffering from symptoms from an early age.](https://nypost.com/wp-content/uploads/sites/2/2023/01/drama-queen-son-230102-95.jpg?w=1024)
After a decade of desperate trying to find answers, Jonatan was diagnosed in March 2022.
“It’ll cause a serious physical disability as it should worsen and he’ll slowly lose his ability to talk and swallow, and he might be at high risk of assorted cancers,” Safiak explained, adding that she had a “nervous breakdown” when she came upon about his diagnosis .
“This diagnosis was delayed for at the least 10 years and deprived my son of the care and treatment he deserved and took a toll on his mental health,” she said.
Determined to profit from Jonathan’s remaining time, the family raises funds to assist him fulfill a few of his dreams, including a visit to Australia in hopes of getting medical checkups to administer his symptoms and meeting Johnny Depp , the foremost actor from his favorite movie “Pirates of the Caribbean”.
The family makes probably the most of their time together and say most individuals sympathize and support Jonathan’s situation.
“He has not received any negative comments about him, but he has been called a ‘mutant’ by a coward on the Web before,” said Safiak.
“We try to proceed the fight as best we will and we are going to proceed this battle,” she continued.
“But I need to share our story to inform other parents – at all times trust your gut.”