Wed, Feb 28, 2018

A Boy With the Will to Live: Biobanking Contributing to Breakthroughs in Rare Diseases


Joshua Frase was born on February 2, 1995. When Joshua was three months old, a muscle biopsy revealed that he had the ultra-rare X-linked myotubular myopathy (XLMTM), a muscle disorder. Tragically, only 50% of the children born with Joshua’s disorder live to the age of two. Fewer still survive past their early school years. Joshua’s parents, Paul and Alison, were told that he may not survive the day. After 24 days in the NICU, his parents were told to take their child home and enjoy the remainder of the little time they had left. Joshua lived to 40 days shy of his 16th birthday.

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