Aug. 3, 2016
TOPIC: Patients & Members
Posted by Jennifer Huron
In 1995 our son, Joshua, was born with a very rare muscle disorder called Myotubular Myopathy; an early death was imminent for our first-born. Through the despair and dismay, a vision of faith and hope was birthed through the Joshua Frase Foundation. Our vision seemed like a dream from the outset, but with fortitude, perseverance and resolve, we embarked on a journey to understand the pathology of this disorder by building a trans-Atlantic team of world-renowned researchers. Our endeavor to unlock the mysteries of MTM has culminated in our ability to give guarded hope to families across the world that their child might have hope for a brighter future. Joshua Miles’ legacy will be one of life, hope and love as we come to the final chapter. Our goal is in sight.
In May, I experienced the trip a lifetime! I was given the opportunity to visit our European MTM families, and all the pieces to make this trip possible fell into place. My good friend, Lisa Nickerson who worked for JFF many moons ago, came with me as my tour guide and wingman. Lisa is a publicist extraordinaire, and she helped me document the trip. We dubbed this trip the “Tour for a Cure.” To be able to spend time with families I have been communicating with for many years and to meet their children meant more to me than words can express.
The whirlwind of a trip was spread out over two weeks, and across four countries. I began in the beautiful city of Rome, spending time with three of our Italian families and their precious children. Their hospitality and warmth they shared made me feel like family, like I was home. I then attended a workshop in Amsterdam hosted by the European Neuromuscular Center (ENMC) focused on Titinopathies. Very exciting work is being accomplished for this indication. From there it was on to Paris to film a documentary with one of our rock star researchers, Anna Buj Bello. I spent a long day at Genethon with Anna and The French Muscular Dystrophy (AFM) production crew filming for five hours on the latest in gene therapy research and the progress being made. Last but not least, I traveled to Frankfurt, Germany to attend the 2016 ZNM Myotubular Trust European Family Conference. The theme of the conference was #TogetherEvenStronger. Although there was a language barrier, there was a depth of understanding and compassion present that transcended words.
I feel like we are in the final stage of this two-decade journey, but, as we all know the final stage of the marathon is often hardest. Prior to this trip, I was exhausted. Working so hard, for so long, with no concrete end in sight is sometimes more than I can bear. It’s even harder when we lose children. This year, we’ve lost seven – that’s an average of one a month. Not only is that devastating for our community, but more importantly, that’s seven families who will have to live with this loss for the rest of their life. But, when I saw our European children in person they reminded me of Joshua. There was something there in their playful personalities that energized me.
I returned home after an emotional whirlwind of a trip with the finish line in sight. To be able to hold and love on these families, and to give hope in a seemingly hopeless situation has given me a renewed drive to press on in support of the cure.
Alison Rockett Frase is founder and president of the Joshua Frase Foundation, a NORD Member Organization
Learn about the Joshua Frase Foundation and NORD’s other Member Organizations here.