FSHD global research foundation

We are a family dealing with FSH Muscular Dystrophy. Our journey with FSH MD began with the birth of our eldest daughter, Sophie. Sophie was born prematurely at 32 weeks and had breathing problems requiring a lengthy stay in neonatal intensive care, then special care wards. So when her developmental milestones such as crawling and walking didn’t happen, we put it down to her prematurity.

At 12 months Sophie could not move in or out of a sitting position, let alone crawl or walk. We began seeing a physiotherapist regularly. With much assistance, Sophie began to learn to crawl. By 19 months she began to take her first steps un-aided.

However, it soon became obvious that Sophie was not developing motor skills the way other children did. Sophie was unstable on her feet, tired easily, could not run or walk very far and had very poor upper body strength. Sophie was 3 years old.

We tried to encourage her to walk more, in the belief that this would build up her weak muscles. Instead of improvement, we noticed a marked decline. We would attempt to walk to the local park, but get only a short distance and she would complain of pain and fatigue and simply sit or lie down and insist she could not go any further. We had to rest for a while before attempting to get back home, stopping to rest many times. She had managed to walk less than 100 meters. We watched other children her age in the neighbourhood running around. They seemed amazingly tireless.

Fortunately we were referred to a visiting neuromuscular clinic. Sophie flew to Sydney and endured nerve conduction testing, blood tests and a failed attempt at a muscle biopsy under a local anaesthetic, then a return to Sydney for a muscle biopsy. We were shocked when informed of the diagnosis of FSH MD. However, it has provided us with some answers.

Since then, with increased knowledge of the symptoms of FSH we began to suspect that Sophie’s mother, Katie aged 31, may also have the condition. A number of doctors agree that it is likely she has the condition and we are now waiting for confirmation through results of genetic testing.

Adding to all of this we have been informed that one, possibly both, of our three year old twin daughters are exhibiting the symptoms of FSH. Both Emma and Claire have been assessed at the neuromuscular clinic and are prime suspects. They are currently strong and have met all of their developmental milestones. We will be facing another round of testing and anxious waiting for results.

Over the past two months Sophie has begun to find it difficult climbing the stairs to our house. She often stops midway and needs to be carried or needs to sit and rest. She is falling over her feet more regularly and is complaining about pain in her lower shins.

Sophie will be unable to attend the local Primary school because it is built on sloping land and has many stairs. Access to classrooms and the playground would require her to use a wheelchair. Luckily, Whian Primary School, nearby, is a small school which has an environment suitable for children with poor mobility. Sophie is currently enjoying Kindergarten orientation once per week. The teachers have noted how quickly her physical fatigue sets in as the day goes on. This affects her ability to concentrate. With stairs being an issue Sophie will be unable to catch the bus to school and we will have to apply for special transport.

The whole experience has had a huge impact on our family. As Sophie’s parents it is heartbreaking to watch her struggle to do activities that she used to do easily. We now plan our days and activities to suit her capabilities and the distance she can walk. The need for a wheelchair for family walks to the park, weekend outings and for school excursions is becoming an obvious, but unpleasant reality.

We find that we have to reevaluate our ‘life’ plans and long term goals, e.g., the practicalities of holidays and overseas travel, the type of house we live in and car we drive. We are faced with unexpected daunting financial and emotional challenges because of FSH. We will have to sell our house and find a new one which has level access and no stairs. We will need to look at buying a new car which is easier to get in and out of. In the short term we need to explore the purchase of a wheelchair.

We maintain a positive attitude as much as possible. We take every day as it comes and enjoy it for what it is. We sometimes make tasteless jokes to each other about Pete having to push the whole family around in wheelchairs. We keep up plenty of activities for the kids like swimming, kindi gym, preschool and the like. It is important to maintain as much of a normal family life as possible. We are lucky to have a solid, loving family and live on the beautiful North Coast of NSW near Byron Bay.

The most difficult challenge is the uncertainty that FSH brings to our family life. How much will the condition progress in Sophie, Katie and the twins? How severe will it be? When will it happen? What about Pain? How do we explain to three and four year olds what is happening? We live in hope that research leads to some answers and then a cure. For now there are no answers, only time can untangle the riddle.

Thanks for reading our story.
Katie, Pete, Sophie (4), Emma and Claire (3)

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