30 year old with FSHD

Hi everyone,

My name is Emma and I got diagnosed with FSHD 4 years ago.

I always knew I walked differently to other people but I was very active while I was younger and used to run cross country and wear high heels and be very confident. During my twenties I found that things started to declne and people used to ask me about my ‘gammy’ leg (aren’t people charming?!!) It was only when I went to Africa to do voluntary work that I compared myself to other people’s physical capabilities and realised that something was really quite wrong.

I’m one of 3 children and joke that I won the genetic lottery that no-one buys a ticket for! We think the conditon may have come from my dad but he died when i was 23 so there is no way of testing him. It is hard being the only one visablly affected but I have the most supportive family and consider myself actually very lucky.

I have had 2 scapula thoracic fusions over the past 2 years which were sucessful, I have a really good specialist who deals with things as they come up and has good contacts to FSHD specialists in London.
To be honest I try not to let it affect my life, I’m very aware I’m different and people can be cruel – imitating my walk, saying i’m hammered on a night out when I’m not drinking which does upset me but I have amazing friends to whom I’m just Emma, not Emma who has FSHD – the friends who weren’t supportive or embarrassed of me are no longer part of my life.

I’m very aware that there is no cure and I’m painfully aware that it is progressing – foot drop and walking up the stairs which may as well be a marathon!! I get panicky on nights out when there is a long walk involved and hate having my picture taken (mouth droop – attractive!) As a single girl I worry about someone ‘taking me on’ especially with fertility issues.
But I refuse to apologise for something which is out of my control. I see a lot of people who are bitter and hate the disease – don’t get me wrong, I depise what it is doing to me but I’m determind to live my life to the full – tears do fall sometimes when I have a stark reminder of my condition – a fall when I can’t get up, a nasty joke at my expense, my inability to pick up my niece when she reaches out for me. But what can I do? Nothing, so I just have to keep going and make sure the good outweighs the bad.

I’d love to hear from anyone else affected by this condition – Im from Essex and can’t find any support locally

Thanks for reading