I’m the first person in my family diagnosed with FSHD.  Looking back, I had symptoms in my childhood, however, these were always put down to my premature birth, and I had always just thought I was clumsy.  I used to fall over often, and I was never a particularly sporty person.  I grew up riding horses and always had a love for the creative arts, playing piano and violin. After high school, I went to University and studied Accounting and after completing my degree, went on to gain my CPA qualification.  I married at age 21, and was lucky enough to find my soulmate in my wonderful husband, Robert.  We had our two beautiful daughters in 2007 and 2009 and felt that our family was complete. In 2011, I had a fall up a small step at work and suddenly lost the ability to lift my toes when I walked.  I was initially told I had damaged the nerves in my kneecap, but after six months with no improvement, further testing was done.  I discovered I had a significant amount of muscle wastage through my legs, core, back and arms. I had no hamstrings left at all.  The first neurologist I saw advised that because I was overweight, it was her opinion that fat had infiltrated my muscles and if I lost weight, they would return.  Thankfully, I was able to get a second opinion from a different neurologist who clinically diagnosed me with FSHD on the spot at the end of 2011, and genetic testing confirmed my diagnosis.

Receiving this news was absolutely shattering.  I was a mother to two young girls at the time, and was told that each of my children had a 50% chance of having the condition.  As I started to digest what it meant for my own future, as a mother, my thoughts were of course constantly then turned to what it may be for my children.  I was devastated to know that I would not have the chance to be the mother that I wanted to be, because my physical ability to do things both for and with my children was so compromised, and to know that my ability to be the kind of grandparent in the future that I want to be, was also doubtful.  I want to be able to provide my children with the same support and help that my wonderful Mother provides me, and I can’t imagine how that will work. It was a lot to take in, and even now, 8 years down the track, some days I still struggle with it all.

I try to focus more on the here and now, and trust that FSHD Global Research Foundation will find a treatment or cure to help me in the future. My progression has been swift and in a lot of ways I have not been prepared, either emotionally or financially for this new life direction.  About 7 years ago, I started using a wheelchair for longer distances to try to help me manage my pain and fatigue and I was most surprised to find that it has not been the negative and limiting step I had thought it would be, it has liberated me and meant I can get out and about with my family and do the things I love. I am a huge advocate for using technology to bridge the gaps between my ability and my mindset, so if there is something I want to be able to do, but I can’t quite manage it, I try to find a way using technology or other assistive devices.  For me, regardless of how I do it or what help I need, its getting there that matters! I have learned to accept help that is offered whenever I need it, and I have found that I have a myriad of supporters ready and willing to step up to the plate and help me, both at home and at work.

In 2015 I became involved with FSHD Global Research Foundation and was the guest speaker at the Chocolate Ball.  This was the first time I have spoken in public, and while I was very nervous to share my story, it was the most amazing experience and I felt empowered and supported.  The Foundation has given me a wonderful opportunity to become an ambassador, which is a role I take very seriously. I enjoy supporting other members of the FSHD community, sometimes when they are newly diagnosed, or looking for connections or information, and I love raising awareness about our condition.  I find that the more people understand the challenges we face, the more acceptance and understanding there is towards both the condition, and disability on the whole.

In 2017, my youngest daughter, Hannah, was clinically diagnosed with FSHD after she had started having some muscle weakness.  We are still trying to confirm her diagnosis as genetic testing to date has not been conclusive.  While it is frustrating not having a definitive diagnosis for her, it actually doesn’t change anything for us as a family.  We have learnt to navigate our different abilities and support each other as a family to ensure we are all supported, loved and included.  We focus on having fun, making memories and living our best lives.  Hannah and I share a special bond, facing similar challenges with strength, pain and fatigue.  While I hate seeing her struggle, I find some comfort in that I know exactly what she is dealing with and can offer some support, guidance and empathy to her. Hannah is currently 10 years old, and I am confident that by the time she graduates high school, FSHD will be something that we have both left behind us, thanks to the amazing work of the foundation.

Last year, Hannah and I both spoke at the Chocolate Ball and shared our family story.  The change I have seen in Hannah has been immense.  It was as if sharing her story gave her a newfound confidence and acceptance of herself.  She refers to the FSHD Community and the guests at the ball as “her people” because she was lifted up and given so much encouragement after her speech.  I’m immensely proud of both my daughters as they are both strong advocates for the foundation and for people with disabilities.  Living with FSHD in our family has changed the lens with which we view life.  It has introduced us to a rich community full of amazing, determined, adaptable people.  I’m inspired daily seeing what my fellow FSHers achieve.  They are not inspirational because they have a disability, they are inspirational because of the way they adapt to live their lives to the fullest and follow their dreams. They have definitely helped me latch on to the positives and do the same.

FSHD has enabled me to be passionate.  Disability rights, accessibility and equity are forefront in my mind and form part of my day every single day. FSHD has forced me to make the most of each day and I have a bucket list of things I want to do while I still can, and we gradually work through the list.  Many people don’t have the appreciation for how quickly life can change and I have the good fortune of having notice that my abilities are changing so I can plan ahead. I love my life and while I am very eager for a treatment or cure, while I wait for it, I will continue to keep living my best life and encourage everyone out there to do the same.

Emma Weatherley