The parents of a Northamptonshire two-year-old say they are 'devastated' after a health body has decided not to recommend a treatment for use on the NHS.
Avery Bazin-Ball, two years old, of Braunston was a bright and active baby but after his first birthday his parents began to become concerned that he was missing his gross motor development milestones.
Following dad Alex and mum Lisa's concerns about their second-born, Avery underwent a series of x-rays, spinal MRI scans, and numerous blood tests, which all showed up clear.
Medics told the family that their baby is likely to have cerebral palsy but following a rare genetic Spinal Muscular Astrophy (SMA) type 2 diagnosis Avery's parents received the heartbreaking news that their baby would never walk and his life expectancy is likely to be late in his teens.
This month the family was told that the National Institute of Health and Care Excellence (NICE) proposed that the NHS should not fund the drug, known as Spinraza, for Avery's killer disease, in England or Wales, due to its cost.
Avery's dad Alex said he is gutted he might miss out on his son's rights of passage as he grows up: "It's absolutely devastating. It's hard work seeing the contrast between my two children. It makes you really fearful for the future.
"For me this is a human rights issue. It's robbing an individual of the opportunity to play and to do all those normal things that every kid does."
Spinraza, founded under pharmaceutical company Biogen, is administered directly into the central nervous system three times a year using an intrathecal injection.
His parents say that the drug has been approved in other countries around the world and is already being administered to hundreds of patients in the USA, France, Israel, Sweden, Switzerland, Austria, Germany, Italy, South Korea and Japan among many others, but not the UK.
Alex added that his son shouldn't suffer because of the country he was born in.
He said: "We have some amazing professionals in NHS England who want to do everything they possibly can for their patients, but their hands are tied by lack of political will and desperately poor policy making and administration. We grew up in a generation that was told it was lucky to have a free national health service, we don’t feel lucky now…
"It's also blatantly obvious that pharmaceutical companies shouldn’t have the ability to play god by setting and inflating the price of these treatments and putting shareholder satisfaction before the life of our children, it’s just wrong."
If the family wanted to treat Avery abroad they would be looking at paying out £700,000 for the initial treatment, however they also need £300,000 every year for him to be treated overseas until the treatment is paid for by the NHS.
Commenting on the announcement from NICE, chief executive of Muscular Dystrophy UK, Robert Meadowcroft, said: "Once again we are seeing families suffer due to the appraisal process being too limited to assess costly but life-changing rare disease drugs.
"The one glimmer of hope is for a temporary scheme that ensures access.
"We call on NICE, NHS England and the drug company, Biogen, to urgently come together and find a solution to provision and pricing so families can get Spinraza before more lives are lost.”
In a statement Biogen said: "The National Institute of Health and Care Excellence concluded that the extent of the benefit overall remained uncertain, particularly due to the lack of available long-term data."
It added: "Measuring quality of life as part of the cost effectiveness evaluation is also problematic, as this is particularly difficult in a paediatric SMA population, due to their young age and inability to objectively describe the impact on their quality of life."