FSHD global research foundation

FSHD means we live with uncertainty
My son was 13 the day he came home from school and told me he couldn’t hold his arms in the air. Then seeing the words facioscapulohumeral dystrophy written on an MRI request shocked my husband and I out of our blissful ignorance as a search of Google saw us recognise the symptoms in our son. We then read of people in wheelchairs and people who needed assistance with eating, of people who could not smile and we were devastated. Surely this could not be happening to our funny, creative and happy go lucky teenager. Our biggest worry for our son was not whether he might end up in a wheelchair, it was how he would cope with this emotionally.

FSHD means we live with acceptance
I was diagnosed with FSHD six months after our son and it certainly explained a few things. I thought a lot about acceptance when my son and I were diagnosed, I figured I had a choice to either keep mourning the losses associated with FSHD, worry myself sick over the what-ifs or I could accept it and get on with living my life. Acceptance made a lot of sense. This doesn’t mean I don’t have still the occasional battle between acceptance and a longing for FSHD to just go away – I do, particularly when it makes its presence felt in one of my children.

FSHD means we live with those out of the blue sinking feelings every now and then
A few months ago my daughter came home with the observation that she supports her arm when holding her hand up in tutorials. Two weeks ago her genetic test came back positive. Our beautiful daughter is lucky to have been born with a sunny disposition and she is taking this in her stride. She sent me a text the day after we first saw her geneticist – “Mum I’m noticing things today that I cannot do, but being with the prep kids makes me happy.”

FSHD means we live with sadness sometimes
When you have a diagnosis like FSHD in the family you automatically look to see who else may be affected. We tried to dismiss the winging going on in the scapulae of our vibrant little eight year old boy, as something that is present in a lot of young children. But every night when I would go in and check on my little boy I was tortured by the sight of him sleeping so peacefully with his eyes open and I knew. We wrestled with whether to have our little boy tested over a long period. The day I heard the news that our little boy had tested positive my heart broke and over the next few days I watched my husband go through grief that felt even harder than my own.

FSHD means we live with heartbreak and then we find joy in the present moment
My husband Bill has had to endure the heartbreak of seeing his family members diagnosed with this disease four times. With our heartbreak though has come exhilarating feelings of joy. I am so grateful to have this wonderful man by my side as we watch our little boy’s glee on a trampoline, we hear our daughter’s passion as she talks of her day in the classroom and we witness our son’s excitement at capturing an awesome photograph. Simple things but such precious moments.

FSHD means we live with hope
My husband Bill and I also have hope that one day the research that is funded by FSHD Global will lead to a treatment in time to help our children and all those other people living with FSHD who have waited so patiently for hope.

FSHD means we need to ask for help sometimes
Your support will hopefully make the road a little easier for our family and for the many other families who are living with FSHD.

Thanks for reading our story.

Please email stories@fshdglobal.org if you have a story you would like to share.