Rachel’s story.

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FSHMD Facioscapulohumeral Muscular Dystrophy is an incurable slow progressing genetic condition that attacks the muscles mainly around the face, shoulders, arms and core. In some it spreads to hips, lower legs and feet.

Between 2000 and 2500 people in the UK have the condition. And I’m one of those people.

To look at me, I look normal. That there is nothing wrong with me. If only haha.

My story begins when I was 16, so 10 years ago now. However, in hind sight I’ve shown symptoms from a really young age but assumed it was ‘just me’; sleeping with eyes open, never being able to sit up without kicking my legs, can’t whistle, blow a balloon, resting bitch face to name a few….now i know why.

I used to dance and during one rehearsal I realised I couldn’t lift my right arm up and keep it up. It felt so heavy, like someone had tied weights to it. A really strange feeling.

A visit to see my GP and various appointments followed. I mainly saw orthopaedic doctors and was sent for a muscle and nerve test. I can’t for the life of me remember what I was diagnosed with but was told it should get better over time. Ultimately I was just left to get on with it. Fast forward 7 years and the same sort of thing was happening to my left arm now. Reaching for things was becoming harder. I’d began to rely on my left arm as it worked normally. But things where changing.

Again I saw an ortho specialist and a physio but this tune he was pretty sure there was more to things. And again I was sent for the same muscle and nerve test. By chance, it happened to be the same doctor to conduct my test and it was him who first mentioned FSH. He had seen people before with the condition and I was ticking a lot of the symptoms. So like you do, I started googling and looking into things.

However, with this condition, the only way to get a confirmed diagnosis, is to see a geneticist. There we spoke about condition a bit and my family tree to see where it may have inherited from. But there was a chance I could be the first in the family. It’s a fairly lengthy process of screening your blood as the fault in the DNA isn’t that easy to spot.

But in the end, it was confirmed I had FSHMD. It was a strange relief to finally have a ‘label’ and to you know where you stand. From there, my mum her blood taken to determine how it flows in my family as no one other member had shown any symptoms; she was confirmed to have FSH too but so mildly she would have went her whole life never being diagnosed. I was assigned a neurologist at my local hospital, who conveniently, has had dealings with the condition. I see him every 6 months to check my reflexes and talk about if I’ve noticed any changes, controlling pain etc. and a physio too who knew of the condition and wanted to work on trying to maintain what muscle I’ve left and ways to try stretch off the tension that I get. As much as I don’t see him now, it’s so slow a progression, I was almost wasting an appointment. We work now that if I need to see him he can fit me in or I can do the exercises on my own.

I still struggle with the what ifs and worry about the future. It’s hereditary, will I pass it on? Will I end up in a wheelchair? Will I be able to keep working? But you could send yourself round the bend if they focused too much on that. I try to remember it’s not a set in stone condition. It affects everyone completely differently. I might not get any worse. It might never effect my legs. I have good days and bad days. Some I don’t really notice it, I’m so used to doing some things a little differently to accommodate my lack of arm range. I’ve been known to be stuck in clothes as clothes can get caught on my shoulder blades haha. Other days the pain can make me feel nauseous. Like a wild fire is spreading between my shoulders. And fatigue can be hard to push through. The what ifs start rearing their heads. But I battle on.

Thankfully I’m still able work 39+hours (hand sewer for Barrie and building my own fashion company too) and make the gym twice a week. I find this eases the tension that builds up in my muscles and keeps the muscle I have working. Even growing a little muscle in places too. Touch wood my legs haven’t been effected too much; my left hip is beginning to niggle me a bit. But I have to be careful not to burn the candle at both ends and burn myself out. I’m still learning to listen to my body. I’m very stubborn by nature, both a blessing and a curse at times with FSH.

I don’t think there will be a cure in my lifetime but if I can get my story out there and raise some more awareness about the condition, I’ll be happy.

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