I remember the day like it was yesterday. I was at the gym with my friends. I was 18.

My best friend was the instructor at the time and she asked the class members to lift their feet off the ground and to balance on their heels. I was the only one in the class who couldn’t do it. I lost my balance, I was stumbling all over the room and people were laughing.

I remember going home that night to tell mum. We both agreed, I had what she had. Whatever that was. It was like the penny dropped that night, we had the same shaped shoulders, the same skinny legs and ankles, the full lips and we couldn’t whistle properly. Then we started thinking some more and then thought of nan. Nan was a bigger lady, but she also had really skinny legs. Nan was always tired. We originally put it down to just getting old and having raised 10 children. But nan would often lie down for most of the day. She always looked tired and her shoes would always fall off when she walked.  I always remember her lying in bed with dark circles under her eyes. Mum and I always say that if only we knew what we know now, we could have done more to help my poor nan. We would have made sure she had the right shoes on, we would have taken her to the physio, we would have made her children aware of the disease before it spread through our family.

For many years I brushed my health aside. I was too busy being a young woman with only her career in mind. I went to University and studied broadcast Journalism. I loved being a radio and TV reporter travelling all over the place. I then I moved to London and work as a press advisor for the UK Government. At age 26, when I returned home I ran a TV news bureau, married the love of my life and then I started getting tired. My shoes started to fall off my feet. I would trip over when there was nothing to trip on and even the most simplest of tasks getting in and out of the news car was a task. I fell into bed at night, always at 8 (and still do!). Any later and I couldn’t get through the next day.

Mum and I went to numerous neurologists, because it was time to find out what this was. We were poked and prodded for years after and no one could give us the answers. MS, Charcot Marie Tooth, you name it they thought we had it. But all the tests and biopsies were negative. Then we found Dr Stephen Read in Brisbane. He took one look at mum and I and knew what it was – FSHD. He was right! Finally a diagnosis.

But with the diagnosis, I also knew I had a 50/50 chance of passing on FSHD. So in 2011 my husband and I decided to have pre- genetic diagnosis (PGD) on our embryos and in May 2012, I gave birth to the most beautiful little girl who is free from FSHD. To see her run and play with an abundance of energy all day long and to see her walk on her heels and run like the wind brings tears to my eyes some days. Tears of pure joy. I am forever grateful for medical science and what it has done for our family.

Finding the Global Research Foundation has also been the most amazing experience. Meeting other sufferers has actually been amazing. All of a sudden we don’t feel alone anymore.

I do feel like I am one of the “lucky” ones with FSHD. I say that because at 37 I can still walk, I can still play with my beautiful little girl and help my husband in the yard. To the average eye I look quite “normal” (whatever that is!). But to the trained eye I get asked the questions … why do I have a limp? why do I always take the lift at work? why do I hold onto the rail and launch myself up a set of stairs? why don’t I join the girls at boot camp? why do I look really tired come mid- afternoon?

Sometimes I don’t feel up to giving people answers, sometimes I divulge the whole story. Sometimes I just pray for mum and I to just keep standing up.

I dream of the day that a cure is found so that our muscles may return, so that I can walk down the street with my mum, holding our heads high, not watching every step. I dream of being able to go to the shopping centre without the constant fear of slipping over. I dream of being able to lift our arms over our heads and to try clothes on all day. Oh and wouldn’t it be marvellous to be able to run in the sand at the beach. I still hold onto hope that we will do all of this one day. The FSH Global Research Foundation has given us all that wonderful glimmer of hope.

Love and light
Leona Luke