Sam Brown, six, was born with the very rare Morquio syndrome, which prevents children growing normally. Most need wheelchairs by their teens and do not survive beyond their twenties.
Since 2012, his family have been given fresh hope in a trial of a new drug Vimizim, which they say has led to significant improvements in his condition, which affects fewer than 100 people in the UK. The youngster is continuing to receive the treatment until a meeting of health officials next month to decide if it should be funded from the public purse.
But his family have been devastated to learn funding for the drug is unlikely to be approved.
The family’s MP, Liberal Democrat Greg Mulholland, has secured a meeting with Life Sciences Minister George Freeman to discuss his plight as a campaign for funding steps up.
His mother Katy Brown, 38, of Otley, near Leeds, said: “It has benefited him hugely. It’s not a cure. But he has now got a chance because he has had it from such as young age.
“It will certainly extend his quality of life but, based on what I’ve seen, there’s a good chance it will extend his life and allow him to be independent.”
But she added: “Every indication we have been given thus far is that the funding will not be approved, which means his treatment would stop and the disease would be allowed to progress. This is unthinkable.”
She said a scorecard used by NHS England to appraise drugs discriminated against very rare diseases where treatments tend to be expensive.
“Sam has a very limited timeframe for the right decision to be made,” she said.
“He has no idea of the silent path Morquio syndrome has set for his future. With Vimizim, he may never need to know.”
Since her son has been on the drug, she said he is stronger, with more stamina and energy. He has also grown.
She said: “He’s very intelligent, bright and articulate and there’s every chance of him doing well at school and going to university and fulfilling his hopes and dreams.”
Christine Lavery, chief executive of the Society for Mucopolysaccharide Diseases, blamed changes under the Government’s NHS reforms last year for causing uncertainty for people over funding for new treatments.
“Despite the UK being the major player involved in the clinical development of Vimizim and British and Irish citizens being part of the clinical trial process, we are some of the last countries in Europe to have the drug funding approved,” she said.
Morquio syndrome affects major organs, leading to physical disability, shortness including a maximum height of 3.5ft, heart disease and difficulties breathing. Because the body does not grow, organs get squashed. It affects one in 250,000 people and is inherited through a defective gene in both parents. Katy Brown and husband Simon, 39, have another son Alex, two, who is unaffected.
A petition calling on NHS England to fund the drug is at http://you.38degrees.org.uk/petitions/nhs-england-s-scorecard-discriminates-against-treating-ultra-rare-diseases.
A regional spokesman for NHS England said: “We sympathise with any patient and family who await a decision on the authorisation of a drug or treatment and appreciate what a difficult time this must be. Decisions to fund treatments and drugs are made based on their effectiveness following clinical trials.”
A decision on funding for Vimizin would be announced next month.