I recently attended the 2017 National Animal Interest Alliance (NAIA) Conference, titled “Animal Nation.”  There, I heard the remarkable, heart-wrenching but uplifting story about the life of Joshua Frase and the challenges he overcame with the support from his family who never gave up in their relentless search to find a cure for Myotubular Myopathy (MTM), a genetic disorder affecting skeletal muscle that Joshua was born with.

As described on the foundation’s website, children born with MTM “will often experience skeletal problems, gait problems, respiratory and feeding challenges, and fatigability along with poor muscle development . . . Statistically, 50% of these children do not live past their 2nd birthday.”

Joshua’s mom, Alison Rockett Frase shared her story at the NAIA conference:

On February 2, 1995, Alison gave birth to her son, Joshua—a baby so weak, he could only move his right hand.  The doctors said that he wouldn’t survive the day and, in a moment that defined the rest of her life, Alison said, “Let’s give him a chance.”  From that moment on, Alison became Joshua’s advocate. Before his first birthday, Alison determined that she would use her husband’s platform in the NFL to start a foundation that would one day find a cure or treatment for her son’s condition. I n 1996, together with her husband, she created the Joshua Frase Foundation.  Since that time, Alison has helped raise over $6 million to fund medical research, search for a cure and raise awareness of neuromuscular-related disorders.

During her search for a cure for this rare disease and to save her son and others similarly challenged, Alison, with scientists and researchers started unraveling the clues to a treatment and perhaps a cure.

After studying the use of gene therapy to restore normal function in mice with the same disorder, the search was on to find a larger animal model before the treatment could begin in humans.

Alison described that search:

This may be the last chance to save my son Joshua. His health has declined dramatically and I am sensing impending danger. It is a miracle that Joshua is now 14, given the odds he would never celebrate his first birthday. It has been a tough and critical year physically for Joshua. We knew the gene replacement therapy success we were showing in the mouse model had to translate to a larger animal before we could even consider getting the FDA’s attention for human trials.

Miraculously, Alison found that animal model in a Labrador Retriever living in Canada named Nibs, who carried the genes for MTM.  Nibs’ puppies born with MTM have been successfully treated.  Nibs, who had been given to Alison to help find a cure for Joshua, was returned to her owner to live out the rest of her life back on the farm in Canada, running with horses.

On September 21, 2017, “Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases . . . announced it has commenced dosing of patients in ASPIRO, a Phase 1 / 2 clinical trial of AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM).”

Alison is hopeful that this treatment will save the lives of those afflicted with this devastating disorder.  Sadly, Joshua passed away in 2010.

If you are interested in learning more about Joshua, the Foundation, and this remarkable research that will help save lives of children and puppies, please visit the website to learn more.