Nemaline Myopathy Support Group

Fundraising

Georgia Gibbons' Swimathon

georgiaPlease help raise funds towards our 6th international convention where families have the rare opportunity of meeting others dealing with the difficulties of living with a disability that very few doctors have knowledge of. Some leading scientists are invited to talk about their research findings. Medical support professionals will also explain why and how to deal with various symptoms.

Nemaline myopathy is a rare neuromuscular disorder which affects the voluntary muscles and is usually non-progressive. The severest form appears at birth, and death can occur in the first few days, weeks or months of life due to respiratory failure. The most common form of the disease is not fatal. Symptoms are weakness in the skeletal muscles like arms, legs, face and trunk. Occasionally the child is completely paralysed. Most people with NM have narrow faces and slender bodies. Severe curvature of the spine is common. The jaw, tongue and throat muscles may also be affected, leading to speech and swallowing difficulties. A few children can only communicate with eye movement or sign language. Nemaline myopathy belongs to the group of muscular dystrophies.

A study in Finland estimated that only 1 in 50,000 live births have nemaline myopathy, making it one of the rarer muscle disorders. The main research labs are in Australia, Finland, UK, and USA With smaller teams in Europe.

Convention delegates from around the world will socialize in a relaxing hotel, listen to scientists and support staff, learn from each other and swap life stories and useful anecdotes. Most people with NM have never met anyone else with this disorder and say they found it very helpful in dealing with the isolation.

Please contact Tilly Dowling to sponsor Georgia.