Many people in the FSHD community may remember the story of my life that I shared at the 2015 Sydney Chocolate Ball. At that time, I was transitioning to a motorised wheelchair because I was about to have a shoulder reconstruction that would limit the use of my arm. In my talk, I mentioned that the transition to the chair would mean changes were required to our home and car. After my speech, a very generous and kind hearted man donated a fully converted brand new car to me – an act which changed my life and for which I will be forever grateful.
Since that speech, a lot has changed in my little family’s lives. I had my shoulder surgery which was successful and my shoulder now does not dislocate which is a big plus! About six months later, my husband was diagnosed with Hodgkin’s Lymphoma and that turned our whole life upside down. Shortly after Rob’s diagnosis, my motorised wheelchair arrived and then my car arrived. Talk about life changing!! For the duration of Rob’s treatment I was able to independently get to and from the hospital and be the supportive wife that I wanted to be – it was my turn to be the strong one. Thankfully, he came through chemo and radiation very well, even attended the 2016 Sydney Chocolate Ball mid chemo cycle! He is now showing no signs of lymphoma and just had his 2 year cancer free milestone.
Another very important point I raised during my speech was how I always look for signs of FSHD in our daughters. We had decided not to have them tested unless they developed symptoms. During 2016, we started to notice signs of FSHD in our youngest daughter, Hannah. She got a bike for Christmas in 2015, and while she was very excited to get it, when she would ride it, she would complain her arms got very sore from holding them up on the handlebars. She has always been a bit clumsy and falls over easily, but many kids go through these stages so we had not worried too much.
However, when she started complaining of not being able to hold her arms up, and whenever we went anywhere and she had to walk longer distances, her legs would ache. We saw she slept with her eyes a little bit open. Slowly, we came to terms with the idea that these were likely FSHD symptoms we were seeing in our little girl. Hannah was then clinically diagnosed with FSHD in 2017. The genetic testing performed did not confirm this diagnosis so we are still awaiting clarity on what type of FSHD she has.
Functionally though, her limitations remain the same so we just take each day at a time and help Hannah live her best life. Since her diagnosis, Hannah has continued her passions of dancing and horse riding. She dances three afternoons a week, studying ballet, jazz, tap, contemporary and hip-hop. There are some moves and poses she struggles with, so we are extremely grateful to her inclusive and understanding teacher who ensures the choreography and dancing assessments are within Hannah’s physical abilities. Hannah was even awarded a dance scholarship this year due to her
enthusiasm and effort. She is often sore after dance class but loves it so much she perseveres. I think Hannah’s determination and grit will see her live life to the fullest.
She was lucky enough to be given her first horse in early 2018 by some beautiful friends of ours. His name is Bailey and he is the most beautiful, calm, patient boy. Hannah loves riding him and also loves to decorate him beautifully with chalk. They have a very special bond already with many more years ahead to enjoy. Hannah has registered for an upcoming clinical trial for iFSHD and we are excited to see what that may bring.
The last few years have also seen my condition progress somewhat. I am still able to walk inside the house and for short distances with a walking stick outside, but I get sore and tired very quickly. Rob is now my full-time carer, and after all that has happened for us in the last few years, we have really changed our life priorities.
We live a lot more in the moment and focus on memories, moments and fun, not material things. As soon as Rob was given the all clear from his cancer journey, we booked a holiday. We took both our girls to Disneyworld and Universal in Florida and to New York, Niagara Falls and LA and made some amazing memories. We also got a puppy, and our little Maltese cross, Mitsy, has brought our family lots of laughs and happiness (and many missing socks and chewed items!).
We are realising more and more that life is about moments that really matter. We plan to be at the Sydney Chocolate Ball again in 2019, because for us, that is a moment that really matters. The Ball is a night that fills us with hope. It is very powerful to be surrounded by a room full of people who are there to help fund research into a treatment and cure for this dreadful disease.
I could cope with the idea of a lifetime of progression when I was thinking just of my condition. Now that it is also impacting on my daughter, I can’t stand the thought of what her future may hold. I struggle to watch her in pain and I am often in tears when I watch her dance because I can see her struggling with moves that I know she could do only months ago. That’s when FSHD really becomes real for me, when I see the progression in her with my own eyes.
A cure for FSHD would mean Hannah and I can run on a beach together. She could dance and twirl till her heart is content. I hope that one day, she can. Thank you for being part of our FSHD journey, and for supporting the Foundation, because they are the driving force towards progress in science and the ultimate goal, a cure.