Three-year-old Drae’s parents noticed unusual symptoms shortly after his birth that confirmed that something was wrong with him. A few weeks later, they learned the cruel truth – their son suffers from a fatal disease, and that in such a unique combination, which apparently no other person in the world has. , according to the doctors, there is only a slim chance that the boy will live to be ten years old.
- Three-year-old Drae suffers from a deadly combination of the two most severe variants of TBCK syndrome.
- Both parents are carriers of the mutated gene.
- A non-functional gene prevents the production of a protein necessary for the development of the brain and nerves.
Problems arose before birth
Rachel, Drae’s mother, first felt that something was wrong during her pregnancy when she stopped feeling the baby’s movements. “At 36 weeks I went to the hospital because nothing was still happening. The sonographer had me bouncing on the fitness ball, but they still couldn’t get him to move. However, all other examinations were fine,” she said.
Drae was born by caesarean section on April 10, 2022. Although doctors initially said he was healthy, the mother immediately suspected something was wrong. “He had dark eyes and made squeaky noises. Every time I pointed it out, they brushed me off saying it was just a result of him being born prematurely,” Rachel said.
After spending two weeks in the hospital, mother and son returned home. Although the first weeks seemed to be uneventful, the little boy soon stopped eating and began to lose weight. “He was gaining weight, but this weight gain was only caused by excess fluid, which caused his head to grow unnaturally fast,” added.
The parents therefore took their son to a specialized children’s hospital, where he underwent genetic tests and an MRI scan.. Five weeks later, he was diagnosed with an extremely rare disease called TBCK syndrome. It is a neurogenetic disorder characterized by developmental delay, intellectual disability and low muscle tone. “It was absolutely horrible. I kept thinking he was going to die in my arms,” the devastated mother revealed.
Tests revealed that both parents are carriers of the mutated gene. Drae also suffers from two of the most severe variants of the disease at the same time, a combination that no one else in the world has. There was also a 25 per cent chance the disorder could be passed on to their older daughters Mia, 14, and Lacie, 12.
Since the gene in the boy does not work properly, his body does not produce the protein necessary for the development of the brain and central nervous system, which inevitably leads to their atrophy. Drae has to be fed through a tube, he cannot swallow on his own, he suffers from epilepsy and digestive problems. In addition, he also has vision problems, for which he is registered as blind. “The neurologists told us, ‘Don’t expect Drae to live into the double digits.’ I try not to think about it, but deep down I know there is no cureRachel stated.
The mother of three children finally found support in a Facebook group for parents of children with TBCK syndrome. Thanks to her, she connected with a doctor who researches this disorder. The specialist managed to reveal the exact specifics of his mutation and set up a treatment that can at least partially alleviate the boy’s symptoms. “Now Drae is doing quite well and is due to start primary school in September. He even learned to say his first words recently“, she explained.
Although there is no cure for TBCK syndrome, parents do not give up and through the collection they are trying to raise money for the necessary home improvements. “He still can’t sit or hold his head up, but he can at least roll over. He likes music, dancing and loves when we sing to him. As for the research itself, a lot is being done and experts hope to find a cure one day. It probably won’t help us anymore, but who knowsRachel concluded.
