In November 2017 at 18 months old our son Avery was diagnosed with the rare genetic condition Spinal Muscular Atrophy (SMA) type 2. SMA is a rare, genetically inherited neuromuscular condition. It causes progressive muscular weakness and loss of movement due to muscle wasting. We are sharing Avery’s journey at www.facebook.com/SMAtype2. We have created this fund raising page to complement our efforts to raise money for the purchase of equipment to enable Avery to have the best possible quality of life. On Facebook we feature events and fundraising activities organised by friends and family. We have received several requests to set up a page to enable people to donate directly. Monies raised at events and on Facebook do not feature in the GoFundMe progress against target.
All funds raised will be paid into an independently managed fund. Monies will only be drawn from this fund upon receipt of an invoice or signed purchase order that is directly related to equipment or treatment for Avery.
Our journey so far….
On the 23rd of May 2016 we were delighted to welcome Avery into the world, our second son, a healthy bouncing baby boy who looked so much like his older brother Louis.
He had a perfectly normal happy first few months, was bright, active, loved his food and he sat up independently. He showed little interest in crawling and walking but his brother hadn’t walked till 14 months and perhaps in our minds there was a little bit of second child syndrome.
Just after his first birthday we began to get concerned that he was missing his gross motor development milestones. A friend of a friend who worked as a paediatric physio had suggested we ought to ask for a genetic blood test as there was a small chance it could be something called SMA.
His doctor though advised that they were unable to authorise this test and referred us to a paediatric consultant. There then followed a summer of misdiagnosis, miscommunication and despair.
The poor little guy had hip x-rays, spinal MRI, and numerous blood tests which all showed up clear. By September we were told that he was likely to have cerebral palsy (CP) and was sent for a brain scan. His neurological consultant was so confident that we quickly booked Avery onto a programme at the amazing Bobath Centre, the world leaders in care for CP. We spent most of October leaving home at 6am for physio sessions in London.
Half way through the month, we received the bombshell that the brain scans were clear, and it was after all likely to be SMA type 2. We were also told that the test we requested earlier in the summer hadn’t been completed after all.
In November we were called into hospital and received the heart-breaking news that genetic testing had confirmed this prognosis. The consultant described how Avery won’t ever walk and how he is likely to lose the ability to sit independently, that he was at significant risk of severe complications from chest infections and his life expectancy is likely to be late teens.
The medical team did offer us a glimmer of hope. The pharmaceutical company Biogen had developed a drug called Spinraza and it was producing positive results in the treatment of SMA.
After a quick google search on the journey home, we discovered that in clinical trials Spinraza halted the disease progression and improved motor skills in over 60% of patients with the most severe type of SMA. We learnt that Spinraza is administered directly into the central nervous system 3 times a year using intrathecal injection. However, our new-found optimism was dampened when we discovered that Spinraza according to the New York Times was one of the most expensive drugs in history, $750,000 for the initial dose and then $375,000 per year for life.
Regardless of this cost, 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 amongst many others.
In contrast in England there is no agreement to consider Spinraza for NHS England yet. If we do get the political sign off to evaluate the drug, the antiquated process in place for approving rare disease treatment means Spinraza will still be two years away.
Since November we have immersed ourselves in the world of SMA, met some amazing people and learnt that whilst life will undoubtedly be challenging and different, advances in care mean there is no reason why Avery couldn’t live a much longer life than we had initially been told.
We have discovered that there are even more treatments in the pipeline and early tests suggest that they really could halt and begin to reverse this degenerative condition, some even being administered orally.
But we can’t have them yet, because the UK government is so slow to react, the NHS is underfunded, and the political establishment is overwhelmed by Brexit.
Being a parent
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 ok 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. It’s not uncommon to be called 6 or 7 times a night to reposition him.
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.
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…
Its 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……
Thank you for taking the time to read this, please help Avery and others by liking and then sharing his Facebook page www.facebook.com/SMAType2
Alex & Lisa x