Anna Eaton has two sons: Archie, 13, and Isaac, 12. Both have Morquio Syndrome, also known as MPS IVA, which affects bone development and restricts growth. It is so rare that only 105 children and young adults in the UK have it.
Untreated, it leads to the progressive deterioration of mobility, health and stamina. Sufferers rarely live beyond their 20s. However, in 2008 Archie and Isaac started on a clinical trial for a new drug treatment – the first ever for this rare condition. The drug, Vimizin, replaces a missing enzyme, the cause of the disabilities and health problems, and the results – for Archie, Isaac and all the patients involved in the trial – were impressive.
Vimizim was so effective that it was licensed by the European Medicines Agency in April 2014. But the Eatons, and the families of many other children and young adults with Morquio in the UK, are now waiting for it to become available on the NHS. During what Anna describes as a “long, sorry saga of NHS reforms and government failures”, an interim decision to fund the treatment was proved to be discriminatory towards rare diseases and abandoned at the end of 2014.
BioMarin, the company that developed the drug, has provided it free on compassionate grounds to patients on the trial for almost a year. However, growing uncertainty about the approval and funding of Vimizim by the NHS has forced BioMarin to make plans to withdraw treatment in May 2015. The Society for Mucopolysaccharide Diseases (the MPS Society), a UK charity supporting individuals and families affected by Morquio Syndrome and other related diseases, is campaigning for NHS England to agree to interim funding for Vimizim. But in the meantime, for patients and their families, the impending deadline is terrifying.
The benefits of Vimizim are wide-ranging. Replacement of the missing enzyme allows children to continue to grow, as well as improving energy, stamina and the ability to walk. It also preserves vision by preventing corneal clouding, lessens chest infections and breathing difficulties, improves sleep and makes pain levels more manageable. In short, it is life-changing.
Anna explains that stopping treatment will mean that these benefits will start to be reversed. “My children will face increasing pain and reduced mobility, which could kick in almost immediately, and their long-term health prospects will be dramatically reduced.” For Anna and the other families, their situation is a ticking time bomb. “We want to have faith that things will be OK in the end, but we have no idea when the end is and we can’t afford to stop fighting.”
England was a primary country in the development and trials of the drug, but it’s one of the last EU countries to agree to fund the drug for patients. Vimizim is currently commercially available in many markets in Europe (including France, Germany, Netherlands, Italy, Czech Republic and Hungary), as well as the Middle East, Russia, Brazil, Canada, Indonesia and the US.
Sarah Long is 43 and is studying for a PhD at the University of Bath. She has Morquio Syndrome and describes herself as “one of the oldies” – “most people with this impairment die in their early 20s”. Before she started the trial, she felt she was near the end of her life, but since receiving Vimizim, she has experienced dramatic changes. “I’ve been able to go back and finish my PhD. My supervisors noticed the changes first as the quality of my written work improved, possibly because of my oxygen levels increasing. I did the trial because I felt I had nothing to lose, but I couldn’t believe the difference.”
“It’s freaking me out, I’m not going to lie. Without the drug, I know I don’t have long left. But it’s the kids I worry about. As you get older with Morquio Syndrome, the problems become more profound, but they’re being given the chance to grow, and thrive, and it might be taken away from them. No child should face the deterioration I have had to if there is medication available.”
So why should the government fund Vimizin? According to Christine Lavery, CEO of the MPS Society, the reputation that the UK has for innovation is vitally important for attracting investment and business to our economy, and if the government starts to renege on its part of the bargain – to fund the products that are developed – this industry will go elsewhere.
She explains that treatments for rare and ultra-rare diseases will always be expensive per head because the expense of developing them can only be spread over a small affected population. “But conversely, the total cost of any drug programme to the NHS will be modest as there are a limited number of patients to treat.”
But it’s not just about money, says Lavery: “Do we not have a moral obligation to provide treatments to children where possible? Morquio patients are born with a disease that they did not choose, neither has it resulted from lifestyle choices that they have made. They, like all others, deserve a chance in life.”
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