News and press releases about the Joshua Frase Foundation and its efforts behind CNM/MTM

Mon, Aug 18, 2014

The Will to Live and the Strength for a Cure

The day Joshua Frase was born, his parents Alison and Paul, were given grave news about their newborn’s life – he most likely would not survive that day. His weakened muscles could not function normally which affected his ability to breathe on his own. Miraculously, Joshua survived, and when he was three-months old, a muscle biopsy revealed he had Myotubular Myopathy (MTM), a congenital muscular disorder so rare only 50 known cases existed in 1995 when he was diagnosed. MTM is caused by mutations in the myotubularin gene (MTM1) and affects the strength of skeletal muscles leading to breathing and swallowing difficulties. Approximately 50 percent of those diagnosed with MTM do not survive beyond age two. With limited information, two facts were certain; it was life-threatening and there was no cure.