By Sarah Washbrook
I’m writing this as a new trustee for FAST UK, also as a Mum – of 6 year old Ivor who has Angelman syndrome, and his two older sisters, Bethan and Olwen. In those months after diagnosis, amongst the confusion and sadness, I found FAST UK. Knowledge, inspiration and hope through science and research; something I could grab hold of in a world that was quite literally spinning out of control.
FAST UK empowered me to talk about Angelman syndrome and its impact on our family – and there I made it my mission to raise more awareness of Angelman syndrome, fundraise for FAST UK and do everything in my power to help the journey towards treatments for Angelman syndrome – and above all to celebrate my little Ivor; to use my voice where he can’t use his.
I’m not going to delve into the science too much, as I know that can very quickly get overwhelming. I’d honestly be impressed if people just knew that Angelman syndrome is about chromosome 15. But to put it all into context – our bodies contain around 35 trillion cells; each cell contains 23 pairs of chromosomes; each chromosome contains around 2 metres of DNA; and on that DNA sits around 25,000 genes. People living with Angelman syndrome have a single (miniscule!) gene on their chromosome 15 that isn’t functioning in the way it should. It blows the mind doesn’t it.
But do we really need to know all this?
When we first got Ivor’s diagnosis I was afraid to know what it was, what the medical reason was. It made it feel too real. I’m just a normal Mum with three kids – most definitely not a scientist – plunged into this new, frightening world on diagnosis. But learning the very basics has been empowering and I’d highly recommend it to families like us, living with Angelman syndrome. Most people I meet don’t know what Angelman syndrome is (including health professionals), so I can explain it to them in basic terms. It also gives me hope, as I can understand the phenomenal medical research being carried out around the world, and can see that treatments are within our reach. On this note, I just wanted to give you a really quick update on clinical trials.
The most advanced clinical trials are still for “ASO therapies” – which is basically aimed at turning on a father’s working gene, where the mother’s one is not functioning in the way it should.
There are three pharmaceutical companies in the race to deliver ASO treatments first – all at Phase 3 clinical trial stages. This basically means they have a treatment that has already shown significant benefits; it’s now being rolled out at a much larger scale to demonstrate its safety and effectiveness, before the push to regulatory approval. We even have an active trial site in Oxford, supported by FAST UK.
It’s clear that it’s not if but when – treatments for Angelman syndrome are within our reach. But processes are extremely thorough and time-consuming, as you would hope and expect.
FAST Global are leading an international effort to accelerate and invest in medical research and we have the best genetic scientists in the world working on it; leading pharmaceutical companies specialised in rare diseases are investing in us; and FAST UK are paving the way with pharmaceutical companies and regulatory bodies in the UK – to make sure that when these treatments are ready, you’ll have access to them. I won’t bore you with the regulatory process in the UK – but believe me it’s very tough and very complicated. But we at FAST UK are on it, working really, really hard. Every single day.
But I can’t emphasise enough how important you are, our Angelman families. It doesn’t matter how many scientists there are, how much investment, if there’s a treatment sitting on a plate – it simply won’t reach your child unless we pull together as a community. The regulatory bodies (basically the people who say yes or no to treatments) need to know about the challenges that our beautiful, brave children face every single day, as well as what we call the “caregiver burden” – and by this I mean real, raw, day to day life for us.
People will see our children’s beautiful happy smiles and our brave faces and think that treatments aren’t needed. But we need to tell them what it’s really like. That you had four hours sleep last night, that your child bit somebody at school, that you turned your back and they pulled the curtain rail off the wall, that you missed two days out of your working week to take your child to appointments – and this is me, last week.
I know that most of us are at max; with no emotional capacity or practical capacity to do anything else. And that most of us struggle to understand the science. Me too. But believe me, we’re doing the exciting bit now.
You have power and can do so much.
So please share your story. Use your voice.
Please fundraise for FAST UK and raise awareness, no matter how big or small. Your fundraising really does make a massive difference! FAST UK has committed £36,000 over three years to support clinical trials in the UK. We have also funded £154,000 for the extension of the Natural History Study in Oxford, on top of the £1,077,103 already invested. These aren’t just figures, this is what keeps the UK on the radar for pharmaceutical companies and future trials.
Make sure that you are registered with GASR – our Global Angelman Syndrome Registry. This data is absolutely crucial.
Please respond to the surveys that we share with you, read our updates and join our webinars.
Please stand with FAST UK and we will support you guide you every step of the way.
