For over three years, every Thursday my son Sam (who is now six) has missed school and endured an eleven-hour day. Firstly, he's sat through a hundred-mile, four-hour round trip to Manchester. Secondly, he's had a cannula inserted - sometimes suffering six or seven traumatic attempts to achieve this, drawn out over a couple of hours. Then, he's undergone a four-hour drug infusion, hooked up to a drip on a hospital ward.
Why? Because Sam unfortunately has an incredibly rare genetically inherited condition called Morquio Syndrome, and because he has been taking part in a clinical trial for the first ever treatment for Morquio called Vimizim.
Morquio Syndrome causes shortness in stature, progressive physical disability and ultimately early death. It's a pretty grim prognosis to hear when your first born is just sixteen months old. And, to add insult to injury, there's a one in four chance that future siblings will have the same condition. We were lucky. My younger son Alex is unaffected, but deciding to have a second child was one of the hardest decisions we have ever taken.
So when we were offered the chance of Sam taking part in a clinical trial, we didn't hesitate. The results for Sam have been amazing. He has grown, he is stronger, he has more stamina and is far more physically capable. Vimizim has given him his childhood back and has handed him the chance of a much better future.
Hope is a very underrated commodity. As a parent you do everything you possibly can for your children, but sometimes there are things that a kiss and a cuddle just won't make right. I can't change the fact that Sam has Morquio. I can't change the fact that he is almost seven and his three-year-old brother will soon be taller than he is. That he'll never win a race at sports day, that he's already spent more time in hospital than most of us do in a lifetime. That I'll probably outlive him.
Vimizim has given us hope. Not unfounded hope, but hope swathed in evidence that this drug actually works. I have lived it for the past three years. So with every fibre of my being, I will not let that hope, that chance, be taken away.
For the past nine months, we have been embroiled in an almighty battle to convince the NHS to pay for this treatment. The drug is expensive, quite simply because the disease is so incredibly rare. The journey over the past nine months has been messy and complex, but suffice to say we have been subjected to multiple institutional failings, which have included delays, false promises, abandoned processes, absent processes, in essence a complete inability to quickly, efficiently and effectively make a decision to fund this drug.
There are just 105 sufferers of Morquio in the UK. A disease so rare and complex requires specialist understanding. Yet the NHS is trying to appraise it through a one-size-fits-all approach. It simply does not work.
On 25th June, Sam sadly lost access to Vimizim. The drug company, which had been providing it compassionately until that point, ceased supply of the drug because NHS England had committed to make a funding decision on that date. Yet after 14 months of deliberation, NHS England chose not to make a decision at all. They neatly side-stepped a tricky situation and deferred their decision to NICE, who are due to announce their position on 28th October.
So treatment has stopped. And now we wait, watch, and actively monitor Sam to record any decline, decline which may well have a permanent and irreversible effect.
Sam never chose to be born with an ultra-rare disease. He has the same right to treatment as any one of us, yet he is actively being discriminated against, quite simply because of the rarity of his condition. He is just six. He has endured too much already, yet he has given so much of his young life to medical research. How can that be right? He fundamentally deserves access to a treatment that is proven to work. His life should carry no less value than anyone else's.
When Sam grows up he wants to be a scientist or a fireman. He has no idea about the silent path that Morquio has set for his future. With Vimizim he may never need to know.
We are fighting for Sam's hopes and dreams. The preservation of the innocence of his childhood. The provision of those vital, basic building blocks of life - his health, his independence, his self-esteem, and his significant potential to give back to society and be successful in whatever field he chooses.
As a parent there can be no greater cause to fight for than that.
Follow Sam's story on Facebook and on Twitter @KeepSamSmiling. A crowdfunding campaign has also been set up by the MPS Society to try to bridge the gap and provide treatment for all sufferers in England until NICE makes a decision at the end of October.
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Guest post: "A clinical trial gave us hope for my son's rare illness – but now the drug is being taken away"
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MumsnetGuestPosts · 27/07/2015 11:59
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