A Northamptonshire family are trying to raise awareness of their sons rare genetic condition after being told that he needs a pharmaceutical drug from the USA costing £529,417 for one dose.
Avery Bazil-Ball, 20 months 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.
Spinraza medication to halt the disease and increase Avery's motor skills are not yet available on the NHS and would cost the family £529,417 just for his first dose in the USA.
Dad Alex Ball said: "It’s difficult to articulate how this situation has affected us as parents, to call it a rollercoaster of emotions seems a dramatic understatement, I am sure you can imagine, you have good days, bad days and some very dark days. The diagnosis changes everything, you find yourself having to confront issues and circumstances that you never imagined would be part of your lives.
"We definitely aren’t okay with it all yet, far from it, but parental instinct kicks in and you realise you must try to begin planning for a very uncertain future and consider how we will support Avery living at home, through education, building a career, making friends and perhaps one day having relationships.
"We can already see signs of the muscular atrophy, Avery needs extra support in feeding and playtime. His lack of strength leaves him unable to reposition himself at night, meaning his - and our - sleep is severely disrupted. Its not uncommon to be called six or seven times a night to reposition him."
Spinraza, founded under pharmaceutical company Biogen, is administered directly into the central nervous system three times a year using an intrathecal injection.
But it isn't just £529,417 the family need to raise to initially treat Avery - they also need £247,061 every year for him to be treated overseas until the treatment is paid for by the NHS.
His parents say that the drug has been approved 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.
Alex added: "In recent weeks the leading specialists in the UK have looked us in the eye and confirmed that in the next few years Avery will get treatment - we know we must do everything humanly possible to make sure we keep him as strong until this day arrives.
"But neither of us are particularly patient people and this is our son, there are also other beautiful children, teenagers and adults in the same situation. Treatments already exist that could transform all their lives, surely, it’s their right as human beings to have access to this now?
"They shouldn’t suffer because they were born in the UK rather than America, Germany or South Korea. This injustice is very hard to live with."
Last week Biogen announced that they are looking into setting up an interim agreement called Management Access Agreement with the National Institute for Healthcare Excellence and NHS England, so more people can access the drug, but nothing has been agreed yet.
To follow Avery's story and fundraising events, click: https://www.facebook.com/SMAType2