Rare Disease Breakthrough Denied: Family's Fight for Son's Life-Saving Treatment

In November 2025, 5-year-old Idrees Qasim's life was transformed by a new drug for his rare genetic disorder. Idrees was diagnosed last year with Niemann-Pick type B, an ultra-rare metabolic disease that affects just 40 people in the UK and Ireland. The condition causes a toxic substance to build up in his organs, leading to a swollen abdomen and difficulty breathing.

After years of uncertainty and no hope, Idrees's family was given a lifeline when he started receiving fortnightly infusions of the drug Xenpozyme. The treatment, developed by Sanofi, has dramatically reduced the size of Idrees's liver and spleen, allowing him to play and run around like a normal child.

However, the family's joy has been tempered by a cruel twist. Just a month after Idrees's diagnosis, the UK's health authority NICE rejected funding for Xenpozyme, citing the high cost. This means Idrees and 35 other patients in England, Wales, and Northern Ireland cannot access the potentially life-saving treatment through the NHS.

Idrees's parents, Qasim and Sadia, are now relying on the drug company to provide the treatment on compassionate grounds, living in constant fear that it could be taken away. They have even considered moving to Scotland, where the drug has been approved. With no alternative treatments available, the family's future remains uncertain.

The case of Idrees highlights the difficult decisions facing the NHS when it comes to funding rare disease therapies. While Xenpozyme has been a game-changer for patients, its high price tag has made it unaffordable for the health service. As the UK grapples with these tough choices, it is the most vulnerable patients who pay the highest price.