Ways to help
FSHD stands for Facioscapulahumeral muscular dystrophy (boy am I glad for abbreviations!). It’s a genetic muscle-wasting condition that causes muscles to weaken and waste over time leading to increasing disability. It is said to now have between 2,000-2,500 people in the UK have FSHD. Several generations of a family are often affected by the condition. Making it now the third most common muscular dystrophy. The mutation of the DUX4 gene has been identified as the cause.
Around half of all people with FSHD develop weakness in their leg muscles, and one or two in every 10 people with the condition will eventually need a wheelchair. FSHD can develop unevenly, so the muscles on one side of the body may be affected more than the other. There are many other signs that can appear throughout the manifestation of this condition these include winging of the scapula muscles, leaving me unable to raise my arms above my head.
Facial weakness varies in person to person, I have had significant facial paralysis on one side and have been told (politely) that I am one of the more ‘severe cases of someone with FSHD’. I have displayed these and more signs from toddler-hood. The most obvious being my smile, lack of symmetry in my facial expressions, leaving my eyes to not always close fully whilst sleeping, unable to suck through a straw properly or blow a balloon up.
However, it wasn’t until 2007 when I sought advice from my GP, which followed with a referral to the neurology department for genetic testing at the Western General Hospital in Edinburgh. The main reason I approached my GP was due to increased difficulty with my walking, as I was by now bearing my weight unevenly, walking more and more sideways when faced with even the smallest incline or uneven surface – not to mention difficulty in clearing my feet whilst climbing stairs. Damn those stairs! My walking pace has significantly slowed and continues to do so.
So here I am, ‘It is in full swing’ as they say and is continuing to develop. All I will say is; yes it sucks, hugely, but I will not allow it to completely destroy my life – even if I do end up in a wheelchair sooner than expected. Accepting it, adapting and learning from it, as well as educating others is why I am here to ring-fence fundraising into vital research and get clinical trials supported, started and completed.
I endeavor throughout the rest of my life journey living with FSHD to inform and support you and your loved ones too.
Will you support me and the cause of Alexandra’s Family Fund for FSHD? If that answer is a yes and you would like to support me and my cause, you can do so by donating directly to my family fund. To do so you will need to click on the JustGiving link just below, to ensure that your donations go straight to Alexandra’s Family Fund for FSHD. The Donate Now button at the top will go straight to the Charity and will not directly go to my family fund.
Net proceeds from Alexandra’s Family Fund for FSHD will be split with 80% of the funds will go towards research, and the remaining 20% held in trust for Alexandra's future care needs
You can follow Alexandra’s Family Fund for FSHD’s journey through their Facebook Page.