Hi, I am Alexandra and I am fundraising for Muscular Dystrophy UK to help aid research and development into FSHD treatments and expansion of our knowledge into the condition. What is FSHD? Dont worry I had no clue about it before my diagnosis either!
FSHD stands for Facioscapulahumeral Muscular Dystrophy (boy am I glad for abbreviations). It is a genetic muscular condition. FSHD muscular dystrophy is 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 1 or 2 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, now I cannot raise my arms past my shoulder height. 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 toddlerhood. The most obvious being my smile and lack of symmetry in my facial expressions and leaving my eyes to not always close fully whilst sleeping, unable to suck through a straw properly or blow a balloon up.
So here I am in 2018 at 31 years of age. It is fully in swing as they say and is continuing. 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 about it is why I am here to ring-fence fundraising into the vital research and get clinical trials supported, started and completed. I endeavour throughout the rest of my life journey living with FSHD to inform and support you and your loved ones too.
Please support me and the cause of Alexandras Family Fund for FSHD