Little Olly, a 3-year-old boy from Bessbrook, County Armagh in Northern Ireland, is battling a unique kidney dysfunction known as TTC21B. He and his one-year-old sister Etta are the sole known cases of this rare disease in Great Britain. Etta too will need a kidney transplant, but due to her size, the procedure is postponed.
Elder brother Olly's journey before the transplant was tough. Plagued with TTC21B, he endured dialysis for up to 14 hours a day, suffering from body pain and extreme thirst. His daily water intake was restricted to just 100 milliliters, leading to his constant cries and lack of sleep.
"He cried from morning till night," his mother Dionne confided in the BBC. "If he got 15 minutes of sleep, that was a miracle. There was no way to calm him down. He didn't fancy interacting with other children and he was in poor health. Looking back now, I'm amazed how we managed to survive that."
Olly's life-changing operation was challenging due to the need to transplant an adult kidney into a small child's body. Dr. Tim Brown, the surgeon at Belfast City Hospital, noted, "This was the smallest transplant we've attempted in Belfast. It's still early days, but he seems to be doing well so far."
Earlier this year, Olly's family had put out an appeal on Facebook for a new kidney. Despite numerous kind offers, it was his grandmother Michelle who matched as a donor, saving Olly's life.
"I received a call saying I was a match, and I couldn't believe it," says Michelle. "I was overjoyed that I could help my grandson – it's a tremendous feeling."
Although Olly has yet to enjoy the freedom of childhood, his family is overjoyed to see him blossom once again.
"He spent the past two Christmases on dialysis, tired and disenchanted," recalls his mother. "Now, he's having an incredible time with all his toys. I can hardly wait to see his face come Christmas morning."
Related Topics:
- Intensive post-transplant monitoring aided Olly's recovery, ensuring optimal long-term results.
- Despite the new kidney, Etta still faces close attention due to her own rare condition, requiring regular health checks.
- Adaptations to medical software, like the desk's Delta variant, provide improved support for managing children with rare diseases, including JBTS.
TTC21B is associated with JBTS11, a kidney disorder caused by mutations in primary cilia's structural and functional genes. Symptoms include developmental delays, kidney, liver, and eye issues, warranting ongoing supportive care. Optimal care relies on thorough diagnostic testing, comprehensive genomic analysis, and individualized therapeutic interventions.
