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Hi, my name is Heather, I am 57 years old. I have 4 children and 7 grandchildren. I was diagnosed with FSHD 7 years ago.  As far as I know, I am the only one in my family with FSHD. I came out from England 36 years ago and have never been able to go back so I have not had the opportunity to watch family members growing up or to talk to them when I was diagnosed.

Now that I know more about the disease, I know I had a few minor (possible) symptoms as a child such as not being able to whistle or blow up a balloon, I was very uncoordinated at any sport, I always had trouble throwing a ball, I also tired easily but there were not enough problems to worry about.

In my 20s I had obviously sloping shoulders but didn’t take much notice as I was busy raising my children but I loved the 80s fashion of wearing shoulder pads !! It meant my shoulders looked a better shape and the strap of my handbag would finally not keep slipping off my shoulders !!

At the age of 35, I had a car accident from which I got whiplash and a few other minor injuries. I now look back and wonder if my FSHD would have been picked up earlier if I hadn’t had that accident because for the following few years all my shoulder, back, and neck pain were put down to having had that accident!!
I went through several years of tests in my 30s and 40s, x-rays, ultrasounds, MRIs etc… but nothing was picked up and my pain was becoming more severe and my upper arm movement more restricted!! Then one day I was having a Nerve Conduct Study done and a Neurologist happened to wander into the room on her lunch break to talk to the people doing my test, she watched me moving different ways that the staff instructed me and then she asked me if I would try doing a couple of things for her, one of them was to walk on my heels, which I couldn’t do! In fact, I couldn’t do any of the things she asked! Her next question after talking to the other staff in the room was to ask me if I would have a muscle test where needles are pushed into certain muscles and you then try and clench and release the muscles to see how much strength you have. I obviously didn’t have much because she asked me to have a DNA test which would take 6 weeks to come back. I said yes but I wanted to know what she thought I had! Her answer was FSHD, she explained it was a type of Muscular Dystrophy. I had the blood test done and rushed home to Google it. I know everyone always says don’t google medical conditions or you will think you have everything wrong with you, well this was one time I’m glad I did!  As I read, I was thinking, this is me, this is what I do etc… It was amazing!

Six weeks later the blood test came back positive!

My first thought was relief! Even though I was sure that I had FSHD, I still had all sorts of dreadful diseases and conditions running through my mind!  At that point, I had no idea how awful FSHD was!

The last seven years of my life since being diagnosed have been spent learning as much as I can about FSHD so I can educate the Drs I go to. The majority of them have never heard of FSHD !!!

I have and still do try different ways of managing my pain as it increases, I am on very strong prescription painkillers daily, I also have to constantly adjust to the often sudden changes in my body that cause more restriction in my movement.

The everyday things that I struggle with are dressing, for me, I have trouble getting a top on or off over my head and have to half lay on the bed or lean my arms on my chest of drawers to do this. I have to wash my hair in the bathroom sink so I can rest my arms on the edge of it as I can no longer support my arms, I do a similar thing combing my hair, I need to find a table or shelf to rest my arm on and bend my head down. Carrying anything over about 2-3 kgs causes pulling on my shoulders and neck and increases my pain so this also means I can’t pick up my youngest grandchildren without severe pain.

In the last 3 months, I have had several falls, due to my foot drop, one of them in a shopping centre, which was painful and embarrassing. My arms and hands are weak, I struggle to chop veggies or pour water out of the kettle, there are now so many things I can’t do. I have support workers a couple of days a week and I use a wheelchair in shopping centres or for any distance.

My pain is ALWAYS there, it is a matter of HOW bad it is. Fatigue is another ongoing problem, there are days when I do hardly anything and feel exhausted and times when I have been out for a day and need two days to recover!!

Every morning when I get up, I smile at myself in the mirror, to check whether my mouth muscles have got weaker. I use my facial expressions a lot so I dread the thought of not being able to. I have severe dry eye problems due again to weak facial muscles, I don’t blink much and I sleep with my eyes partially open.

It makes me sad that the one thing I would really like to do in my life, which is to travel, is now something that would be very hard to do as I need more help.

I know I am getting weaker and I am so thankful for my FSHD friends who are all at different stages of this disease, many are in wheelchairs fulltime ( which is something I will need to deal with in the next few months ), these people are amazing, they are supportive, helpful and willing to listen after a hard day and share ideas on how to do things as our bodies change. They are also hopeful that one day a cure will be found !

FSHD is a horrible, painful, debilitating disease !


Donate to the FSHD Global Christmas Appeal to help find a Cure !