At the end of 2021 I took a maternity cover contract at
Muscular Dystrophy UK (MDUK), as Head of Individual Giving. When I joined, I
knew nothing about muscular dystrophy.
Muscular dystrophy (MD), for starters, is around 60
different conditions, all of them muscle-wasting – that means the muscles
deteriorate over time. To quote the NHS:
“In most cases, muscular dystrophy runs in families. It usually develops after inheriting a faulty gene from one
or both parents. MD is caused by mutations (alterations) in the genes
responsible for healthy muscle structure and function.”
Some conditions, like Duchenne, are life-limiting. The heart is a
muscle too.
Although categorised as a ‘rare disease’, muscular dystrophy
affects around 110,000 people in the UK – which by the time you include their
families, friends, and support networks, impacts thousands more. I do have a
friend with a muscular dystrophy, I just never realised that’s what it was.
Several things will stay with me from my year with MDUK– one
of which is the fact that you can prevent a disease. “Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively
destroys motor neurons.” However, new-born screening can identify whether
the baby has the variant gene and gene therapy can be applied early on (way
before any physical indications of the condition). With gene therapy, the child
can grow up without the life-limiting disease. That to me is mind blowing!
The second is that when a new, disease modifying drug is
identified, even after positive clinical trials, it may not be adopted by NICE.
MDUK (and many other health-related charities) work hard to ensure access to
treatments for those they benefit – and it’s not always a clear-cut case. I know of two examples of children who
have had access to treatment (that isn’t necessarily going to be there in
future for others) that has dramatically improved their quality of life. One
example is Translarna. I’ll be watching the MDUK website in January to see if NICE
have agreed to make it accessible to children newly diagnosed with Duchenne.
The third is the fantastic
Changing Places project. I had no
idea such toilets existed and the difference they make for families, individuals
and carers who just want a simple day out or even just a trip to the
supermarket. Now I notice them when I see them, and smile.
One thing I learned was about myself - and that even though I try very hard to be woke (yeah, it can be an ambition!), I can be guilty of micro-aggressions. I wrote a separate post about this.
I spent the year with amazing colleagues, some with a muscle
wasting condition, some with family members with a condition. And I had the privilege of meeting the people who support, and
are supported by, the charity. I learned so much more by just speaking or working
with people who have a muscular dystrophy.
Goodbye MDUK, and all the best for 2023 and on.
Now, on for the next adventure and set of learnings. I do
love the third sector, it is always going to surprise, engage and teach me new
things.
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