Our son Louis is a happy fun loving, football-mad 7-year-old boy who presented with muscular problems from approximately the age of 18 months. His condition is progressive and more recently his hands are much weaker, therefore requires help with all activities of daily living.
Finally, after 5 years of constant worry, stress and hospital appointments we have been informed of our diagnosis in the summer of 2019.
As a family that had never heard of Nemaline Myopathy 6 months ago, we would like to support and raise awareness of this very rare disease, therefore our first fundraising event will be to raise money through my sister Lydia running the 2020 London Marathon.
Nemaline Myopathy is a rare neuromuscular genetic muscle-wasting disorder that can affect all the muscles within the body predominantly the heart, lungs and swallowing. Muscle weakness is usually most severe In the face, neck and muscles closest to the centre of the body. There is currently no treatment for NM and careful constant monitoring is essential. The incidence of nemaline myopathy is currently 1 in 50,000.