What is Niemann-Pick disease?

Niemann-Pick disease is an ultra-rare metabolic disorder that causes a toxic substance to build up in the body, leading to organ enlargement and respiratory issues.

How has the drug Xenpozyme helped Idrees?

The drug Xenpozyme has dramatically reduced the size of Idrees's swollen liver and spleen, allowing him to play and run around like a normal child for the first time.

Why can't Idrees access the Xenpozyme treatment in the UK?

The UK's health authority NICE has rejected funding for Xenpozyme, citing the high cost of the drug, leaving Idrees and 35 other patients without access to the potentially life-saving treatment.

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

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

11 Nov

•

Summary

4-year-old Idrees diagnosed with ultra-rare Niemann-Pick disease
New drug Xenpozyme shown to dramatically improve symptoms
NICE rejects funding for treatment, leaving UK patients without access

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.