The will to live full

The Will to Live and the Strength for a Cure

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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.

As Alison and Paul struggled to keep their son alive, they felt helpless and alone. They found themselves resuscitating their son countless times, but Joshua had a strong will to live. His passion for life only reinforced his parents’ devotion and determination to find a cure for MTM and other centronuclear myopathies (CNM). The Frases established the Joshua Frase Foundation with a mission to raise awareness and funding for medical and scientific research, and connect with other families who are affected by neuromuscular disorders.

Remarkably, Alison and Paul managed to juggle the demands of parenting their frail child while successfully operating the foundation. This proved especially difficult during Paul’s 11-year career as an NFL defensive lineman, which often required extended lengths of time away from home; however, the combination of the Frase’s unwavering persistence and the platform for collaboration with the NFL family helped the Joshua Frase Foundation come to fruition. They acquired a team of leading researchers from a variety of fields who aim to discover effective therapies and cures for MTM.

Through the years, Joshua never asked “why” or complained about his condition. He embraced his education and excelled in school, achieving National Honor Society membership and was studying biotechnology in high school to become a research scientist. It was his vision to find a cure. Sadly, after fighting MTM for nearly 16 years and overcoming many obstacles, Joshua passed away on Christmas Eve 2010 at the age of 15.

Joshua was an inspiration to many, and his legacy lives on as Alison and Paul diligently seek a cure so that no other parent must experience the excruciatingly difficult pain of losing their child to a neuromuscular disorder. Recent scientific breakthroughs in the development of gene replacement therapy may be an effective treatment option for MTM. Gene replacement therapy identifies the faulty gene, and overrides it with the correct copy. In 2008, gene replacement therapy was effective for X-linked myotubular myopathy (XLMTM) in mice; however, its success in each case is contingent upon directing a gene to the correct cells. Clinical trials using large animals with MTM are pending FDA approval.

The Joshua Frase Foundation strongly encourages those diagnosed with CNM or MTM to register with the International Family Registry for Centronuclear and Myotubular Myopathies global map. This will help identify the locations of those individuals and families affected by CNM or MTM for their participation in current research initiatives and clinical trials. It will also allow researchers to better understand the disorder and locate subjects for future clinical trial opportunities.

Barbara Hollister is currently an intern with NORD’s communication’s team.