Vision, fortitude, resolve, a guarded dream, and a child with the will to live is where our story began.  After 24 days in the NICU, we were told to take our child home and enjoy the remainder of the little time we had left. That was February of 1995.  At five months of age, we were told our son was afflicted with an ultra-rare disorder called myotubular myopathy (MTM). They added, “If your son makes it to his first birthday, bring him back and we will re-evaluate his condition.” Thus our journey of a lifetime began. We started a nonprofit organization before Joshua was one year of age with the goals of funding research and raising awareness for MTM. Upon the establishment of a team of world class researchers, we began to search out answers to this fatal disorder. Our team of altruistic researchers began collaborating immediately.    Our research focused on:  Understanding the pathology of the disease  Possible regenerative medicine applications  And as early as 2000, Gene Replacement Therapy (see old newsletter link) dated October 2000   Fast track 22 years; hard work, commitment, perseverance and the support from you brought us to this monumental accomplishment. We are elated to share that Audentes Therapeutics has announced that the first MTM child was dosed with gene replacement therapy earlier this week. This is a significant milestone accomplished in the field of neuromuscular research, and for our children and families affected with XLMTM. We look forward to the day that this disease is eradicated from the list of rare diseases without a cure. Our gratitude to those that have pushed this guarded dream for 22 years is beyond measure.   We would like to give special thanks to the following researchers for their tireless efforts; Anna Buj Bello, Alan Beggs, Casey Childers, Jocelyn Laporte, Jim Dowling, Mike Lawlor, and, Barry Byrne for the introduction to Matt Patterson, CEO of Audentes Therapeutics. Although there have been many scientists and lab techs from around the world involved with these studies, these scientists constitute the core group responsible for commencement of clinical trial status.     Finally, we would like to honor our MTM families and the HEROISM they exude. Your children are our hero’s. We admire each of you because we know what you have experienced. We empathize with you because we feel your pain and know your struggle. Our families are always living life on life's terms, and embracing life to the fullest. We love you because you are our brothers, sisters, sons and daughters. Your willingness to participate in research initiatives through the years, bio-banking, registries and for some of you, the current clinical trial has been paramount to the success of this program. We thank each of you for your hard work and sacrifice for the cause.   Please keep these families in your prayers on the road ahead.   Our gratitude to those that have pushed financially and emotionally this guarded dream for these last two decades is immeasurable. Words cannot express our joy for the arrival of this day…for such a time as this.   As always, we continue to further advance other vital research initiatives and we thank for your future support.    Much love, and Always For the Children, The Joshua Frase Foundation    Audentes Therapeutics Press Release