A desperate plea for hope: Little Idrees’ battle against a rare disease and the fight for access to life-saving treatment.
A ray of hope in a dark diagnosis.
Imagine a five-year-old, Idrees Qasim, struggling to walk due to an unusually swollen tummy. His parents, Qasim and Sadia, were concerned, but little did they know, their son was facing an ultra-rare metabolic disorder called Niemann-Pick type B (NPB). With only 40 known cases in the UK and Ireland, this disease causes a toxic buildup of fatty substances in vital organs, leading to a tragic fate for most patients.
But here’s where it gets controversial: a groundbreaking drug, olipudase alfa, offers a potential lifeline, extending life expectancy by around 30 years. Developed by Sanofi, this drug is a game-changer, reducing the size of affected organs and improving lung function. However, its availability is limited, and the question arises: why isn’t the NHS funding this potentially life-saving treatment?
Idrees’ story is a heart-wrenching one. At four, his GP finally referred him for scans, revealing an enlarged liver. Further tests confirmed NPB. His parents were devastated, reading the stark reality: ‘no effective treatment’ and a life expectancy of late childhood to early teens. But then, a glimmer of hope with the diagnosis of NPB, as it opened the door to Xenpozyme, the brand name for olipudase alfa.
And this is the part most people miss: the cruel catch. While children in over 50 countries, including Scotland, receive Xenpozyme, the National Institute for Health and Care Excellence (NICE) denied its funding in England, Wales, and Northern Ireland, citing cost grounds. Sanofi, the drug’s manufacturer, provides it to Idrees on compassionate grounds, but his parents live in uncertainty, fearing the treatment might be stopped at any moment.
The family has even considered moving to Scotland for treatment, but the future remains unclear. Nasreen, Idrees’ grandmother, an accountant, says, ‘We’d go anywhere for our boy, but we’re stuck, living in hope while unsure of the future.’
This story isn’t just about Idrees; it’s a battle for access to treatment for all rare disease patients. With 3.5 million people affected by rare diseases in the UK, the lack of available treatments is a pressing issue. The high costs of development and small patient numbers often deter drug companies from investing in ‘orphan’ diseases.
NICE’s role is to decide if a drug’s price is justified by its effectiveness. For ‘ultra orphan’ drugs like Xenpozyme, the threshold is higher, but discussions with Sanofi failed to agree on a price below this threshold.
The Scottish Medicines Consortium approved Xenpozyme in 2023, offering early access while more data is gathered. But in England, talks between the Health Secretary and pharmaceutical firms have stalled, with companies arguing that the UK market’s competitiveness is declining, potentially denying patients access to groundbreaking treatments.
The disagreement continues, and patients like Idrees pay the highest price. There’s no alternative treatment for Niemann-Pick disease; only symptom management is available. Consultant Alex Broomfield at GOSH says, ‘Treatment focuses on managing increasingly debilitating symptoms with age.’
Toni Mathieson, CEO of Niemann-Pick UK and a mother who lost three children to Niemann-Pick type A, calls NICE’s decision ‘devastating.’ She argues that NICE fails to acknowledge the higher costs of developing drugs for rare diseases and the realities of living with such conditions.
NICE estimates the annual cost of Xenpozyme for Idrees at approximately £282,000, with the total cost to the NHS for all 40 children at £20 million. Toni Mathieson questions, ‘What cost do you place on a life?’
Idrees’ treatment continues, but another child might not be so lucky. His grandmother, Nasreen, says, ‘We’re grateful, but this isn’t just about Idrees. It’s unbearable to think others will suffer and die unnecessarily.’
The debate rages on: should the NHS focus on improving health services for all or spend more on life-prolonging drugs for a minority? The answer is complex, but one thing is clear: stories like Idrees’ demand our attention and action.