One hot summer day about 15 years ago I was with my sister and her husband in London waiting to see a consultant at the National Hospital for Neurology and Neurosurgery. As we walked in the door of the doctor's consulting room and sat down he said to my sister, 'You have FSH'.

When I heard the doctor tell my sister she had FSH I had no idea what he meant. To me FSH meant follicular stimulating hormone dimly remembered from my days as a student nurse as being necessary for ovulation. This did not seem to bear any relationship to the peculiarities my sister had; falling over when jogging, walking differently, weakness in her arms and changes in her face.

My sister had been searching for a diagnosis for her strange symptoms for two years. And at the first sight of her this wonderful doctor had a diagnosis.

After that visit we were busy finding out everything we could and the more we read the more little things in the family made sense. My maternal grandmother peeling vegetables while resting her forearms on the worktop, her going upstairs leaning forward and placing her hands on the steps as she went. My mother with her lordosis and having difficulty holding her head up. An aunt who hardly went out, a cousin with leg weakness, her son wearing a frame to hold him upright.

Now it was time for tests. My mother has the gene, of her four children both her daughters and one son has the gene, one of my daughters has the gene. Then we stopped testing. My children said they would consider having the blood test if I began to exhibit symptoms.

I have the genetic abnormality but no symptoms. I am 60 and I am well and strong and upright. Yet there is concern. Does my back ache because of gardening or because of loss of muscle? Does my face look different because of age or are the muscles weakening around my mouth?

With my children I have concerns. Did my younger son have Woolff-Parkinson-White syndrome because of FSH or because up to 3% of the population have the same abnormality of the heart? Does my older son walk with his hips jutting forward for style or because of FSH? Did my daughter have caesareans because of weak muscles or was that simply chance?

Of course I realise that my concerns are nothing compared with the symptoms of people with FSH who I have met at conferences. Nothing compared to watching my gallant sister tackle and overcome the restrictions to her movements. Nothing to seeing my mother at 91 years old still finding inventive ways to comb her hair and dress herself.

Through FSH I have met some amazing people. All have a story to tell and by sharing our stories we have opportunities to learn many ways of adapting our environment so that we can get the very best out of it at all times.

With warm regards to you all,
Penny