This has been a life-changing year – not just because of Covid-19, but because of my son’s neuromuscular diagnosis.
I don’t know how I would have got through it without Muscular Dystrophy UK.
I hope you are well, and that you have been keeping safe and in good spirits during this very strange and different year.
2020 has been such a difficult year for my family – in fact, it began with some news that changed our world. You see, my seven-year-old son Tobi has been in poor health for quite some time. He’d been missing his development milestones and complaining more and more of feeling tired. I’ve taken him to various specialists over the years, because something was clearly wrong, but nobody had been able to pinpoint what it was.
Tobi’s condition, and the uncertainty around it, has been so upsetting for all of us – that sense of him suffering but nobody knowing why. For months we had referral after referral, with doctors running tests and ruling out one thing after another.
Finally, back in January, we had a breakthrough of sorts. Tobi was given a neuromuscular diagnosis, and we were told that it looked like a congenital myopathy. However, this is an umbrella term and Tobi’s consultant also told us that, depending how rare or complex his individual condition turns out to be, the time it may take to get a full diagnosis could range from months to years – perhaps not even within his lifetime. While this was scary news, there was at least some relief at having a likely diagnosis. Working with the doctors, we got a plan in place – they were going to take a closer look at his heart, followed by a general anaesthetic to take muscle biopsies, and we’d go from there.
But right then, Covid-19 came along and everything shut down. The plan went out the window.
When lockdown started back in March, this was the beginning of what I call our ‘life in limbo.’ We’d had this unconfirmed diagnosis for our son, but with lockdown, all the follow-up appointments and aspects of his care plan suddenly vanished. It was such a scary place to be, for all of us.
That was when Muscular Dystrophy UK really came through for us. Their phone helpline was there whenever I needed information, practical help, or just emotional support. (I say ‘just,’ but that last one is so crucial, as perhaps you know.) I had so many questions about Tobi – his situation was so unusual, and there was little information online that seemed to apply to him. I really needed to speak to someone knowledgeable, someone who had time to listen, and that’s exactly what Muscular Dystrophy UK gave me.
Not only did they provide information about Tobi’s condition, they were also invaluable when it came to help navigating the system of support and benefits. I had applied for a Disability Living Allowance (DLA) to help cover the cost of Tobi’s expenses, sending loads of supporting detail about Tobi and his situation. But when the decision came back, I was devastated to see we had been given the lowest rate. It was as if they hadn’t even read what I sent them!
I was distraught and having a hard time thinking straight. Neeru at Muscular Dystrophy UK was a godsend – so calm, professional and reassuring. I was close to tears when I phoned her, and she simply said, ‘We’ll get it sorted’ and told me exactly what steps I needed to take to contest the decision and get the higher DLA rate. I was actually the second person she’d spoken to that week with the same problem, so it must happen to a lot of people.
Sure enough, with guidance from Muscular Dystrophy UK, I was able to get a new decision that awarded us the higher rate – an amount that would come much closer to covering all Tobi’s needs. And what was really invaluable was that this rate awarded access to a blue badge, enabling Tobi to travel with ease. I can’t begin to tell you the difference it made to have the support I needed to get that decision changed.
Muscular Dystrophy UK has been such a vital part of our lives during this difficult year. Tobi has struggled during lockdown. He misses his friends and family, and his physical health has deteriorated. He’s experiencing more muscle weakness, especially down the left side of his body, and relying on his wheelchair more. Physio appointments via Zoom are better than nothing, but they’re not the same. When so much else feels like it has gone away, Muscular Dystrophy UK has been there, at the end of a telephone.
And of course there’s so much else they do besides, especially in the field of research. Muscle-wasting conditions are rare enough that they don’t get the same degree of research funding as more common conditions, but the impact when they strike can be just as devastating and life-shattering. Research is so important to us – it’s where the hope is, and it’s what could one day lead to Tobi getting a full diagnosis.
So please, this Christmas I hope you will be able to send a gift to this amazing charity.
If you could give £5, you could help ensure that the helpline and information services are able to give vital support to people like me and my family.
Or a gift of £10 could help with advocacy cases, enabling expert staff to give their full attention to helping people dispute unfair decisions and get the benefits they need and to which they are entitled.
An especially kind gift of £15 could go towards essential research into muscle-wasting conditions, bringing us closer to faster diagnoses and better treatments.
This is going to be a very strange Christmas for everyone – many of us will find it hard, and I’m sending you my best wishes. As for my family, it will be a much smaller Christmas than we’re used to. We’re normally a bit Christmas mad, with a big gathering, dressing up and all sorts of silliness, but Tobi’s energy levels have been pretty low lately and of course we’re not sure what the lockdown situation will be, so we’ll just have to take it as it comes.
In closing, let me just say Merry Christmas from all of us, and thank you, on behalf of Tobi and my whole family, for supporting Muscular Dystrophy UK.
All the best,
PS. Please do read this letter from Neeru Naik, MDUK’s Head of Information, Advocacy and Support as she highlights the incredible work the charity has been able to do with your support.
UK Rare Diseases Framework published
MDUK announces completion of two projects we funded into DMD.
AMO-Pharma announces the initiation of REACH-CDM clinical trial
Gabby will cook her Sri Lankan-style monkfish curry.