Hello!

I'm Suzie - most of you will know me in some capacity, but may not be aware that I'm training to run the Edinburgh Marathon this year in aid of FSHD.  I am asking for your help, and with that in mind, have tried to give as clear an outline as to why in the below.  Thank you for taking the time to read this, and for considering a donation to this important cause.... 

In January 2017, at a school Parent Council meeting, I had the good fortune of meeting Alexa.  As soon as we started chatting, we hit it off, and over four years later are still great friends :-)   

Here's the not so good bit.....Alexa has FSHD. 

FSHD stands for Facioscapulahumeral Muscular Dystrophy (dare you to pronounce that properly!!), and is a genetic muscular condition.  Affecting 2,000 - 2,500 people in the UK, it causes skeletal muscles to weaken and waste away.  Several generations of one family are often affected, making it now the third most common Muscular Dystrophy in the country.  The cause of this awful disease has been identified as the mutation of the DUX4 gene. 

FSHD can strike anyone - men, women, children, all races, all ethnicities.  Although it is inherited, some 30% of cases arise in families with no prior history. No individual or family is immune.

Typically beginning in early teenage years with the loss of muscles in the face (facio), shoulders (scapula), upper arms (humerus), legs or core, FSHD can spread to any muscle. Around 20% of those affected will need a wheelchair by age 50, and over 70% experience debilitating pain and fatigue. 

I could talk more about general numbers and information, but for me, FSHD is not about the general, this is personal - this is about Alexa, my friend, and seeing her live with this condition every day.

FSHD is a cruel disease, taking away the ability to do the most simple of tasks most of us take for granted.  As muscle weakness develops, it can do so unevenly, causing muscles on one side of the body to be affected more than the other.  This has been the case for Alexa, and will continue to be so as it deteriorates throughout her life.  She also suffers from 'winging' of her scapula muscles (shoulder blade), leaving her unable to raise her arms above her shoulders.  Facial weakness varies from person to person, but Alexa has significant facial paralysis on one side and has been told (politely!) that she is one of the more severe cases of FSHD paralysis.  She has displayed symptoms of this since toddlerhood, with the most obvious one being her smile, and the lack of symmetry in her facial expressions.  She is unable to close her eyes fully in order to sleep, and also unable to carry out simple tasks such as sucking through a straw properly or blowing up a balloon.  She has foot drop (difficulty lifting the front part of the foot), weak lower abdominal muscles, weakness in her hands and fingers, (thereby making daily tasks like pouring from a boiling kettle pretty dangerous), chronic fatigue and lots of pain.  And that's just the physical realities of living with this disease - I've not even touched on the emotional.  

Alexa is now 34 years old.  FSHD is in full swing, and it is not slowing down - in fact her struggle to live with this disease worsens as the months pass and the symptoms take a fiercer hold.  To put it frankly, sometimes her life sucks, hugely. But she is determined to push on and not allow it to take over her life, even if one day she finds herself in a wheelchair sooner than expected.  Accepting FSHD, adapting, and learning are all part of Alexa's day to day journey, but she also doesn't want to just live with it.  She wants to raise awareness, she wants to educate, and she wants to raise funds so we can start pushing forward on the vital research that is needed to address this condition. With your support, we can make this happen.  Knowledge can develop, research can grow, clinical trials can be supported, and we can start to better understand FSHD so we can ultimately work towards a cure.  

Alexa is just one.  The funds we raise now may not help her, but they will help the future Alexas - the ones yet to be diagnosed, and even the ones yet to be born.  With no current treatment or cure, please help us give them hope that this condition will not rob them as it continues to rob those affected today.   

THANK YOU!!!

Team26 (Suzie & Alexa)