The Miracle of Nibs

The following is an account from Alison Frase,
Co-Founder of the Joshua Frase Foundation.

The Joshua Frase Foundation (JFF) raises funds for medical research for the treatment of and/or cure for neuromuscular disorders, to increase awareness of the disease and to build a network of support for families affected by these devastating disorders. Great strides are being made towards finding therapies to treat and eventually cure neuromuscular disorders. When success is proven, thousands of sick children will be able to receive these treatments, which could extend and improve the quality of their lives. This may be the last chance to save my son Joshua. His health has declined dramatically and time is running out. It is a miracle that he is now 14, but it has been a tough year. 

The Federal Drug Administration (FDA) requires that doctors show success in clinical trials from a large experimental model. Testing on this type of model for MTM provides a critical opportunity to develop and test treatments for safety and efficacy before running human trials on children like Josh.  And so our search began……

In the Fall of 2008, a female Labrador Retriever was discovered that carries the same gene as I do for my son’s muscle disorder (MTM). To date, this was the first MTM large animal ever discovered by researchers anywhere in the world. This dog, Trixie, was found by a veterinarian in Canada, Dr. Elizabeth Snead. Trixie did not show any signs or symptoms of the disorder. The confirmation came when Trixie gave birth to a litter of puppies and two out of ten showed symptoms of MTM.  The muscle tissue from the pups was sent to the University of California, San Diego, to Dr. Diane Shelton, who confirmed they were born with a muscle disorder. 

Before we could speak to Trixie’s owner, she was spayed and our promise for research with a large animal model came to a screeching halt! I shared with Dr. Snead where we were with research and how we desperately needed a large animal model for clinical trials. Determined, Dr. Snead spent weeks trying to locate a female sibling of Trixie. She finally found her and her name is Nibs. Dr. Snead learned that Nibs also gave birth in August and two out of her ten pups were affected, which confirmed that Nibs was a carrier of the same gene. 

Dr. Snead provided me with the number of Nibs’ owners, Vic and Karen, who also live in Canada.  I called Vic, not knowing to what extent, if any, he would consider getting involved. I explained where we were with research and what we needed to do to get to clinical trials.  I told him that time might be running out for Joshua. I told him about the nine children who had died this year due to this neuromuscular disease. Before I could finish, Vic said, “I want to give you this dog, I want to help your son.” I was overwhelmed with great joy.  His kindness was beyond words. My husband, Paul, and I agreed that I needed to get on a plane immediately. We felt the urgency to get the dog as quickly as possible. Vic and Karen adjusted their schedules and drove six hours round-trip to meet me at the airport in Saskatoon, Canada with Nibs. It was an emotional meeting and a very touching goodbye.  Nibs and I bonded quickly and by morning, I felt she trusted me. 

The trip was a nightmare. The airlines lost my luggage along with the dog carrier. My guard was constantly up; looking out for Nibs’ safety and care. We stopped in Minnesota to break up the trip. The following day, Nibs and I went standby on the second flight out.  Upon arrival at our destination, I handed Nibs off to a caring team of doctors and their staff. I was emotional. I was also torn between knowing what Nibs needed to do for our son, but I also knew that she belonged with me. On my way back to my own home, I called one of the researchers and told him that after Nibs gave them one to two litters, I would like for her to come live with our family.  The doctor agreed and assured me of Nibs’ safety and comfort throughout this process and that the highest ethical and moral standards are always upheld when it comes to the care of their animals. He spoke eagerly of the progress he believes we can make with Nibs’ help. 

I sensed a new chapter in our journey, another step towards finding a cure for Joshua and many other children like him. We’ve entered another stage. We’ve crossed another barrier towards FDA approval. Hope is finally in sight.

Shortly after Nibs’ arrival she became pregnant and delivered 12 puppies.  Six of the puppies carry the gene for myotubular myopathy. All are doing extremely well, are happy, eating up a storm and getting really big. The researchers and their staff are absolutely amazing, giving the pups extra care and attention seven days a week. 

Once Nibs’ duties as a mother were fulfilled, and after thoughtful consideration, Paul and I decided it would be best for Nibs to return home to her family.  In Canada, she can resume her life on the farm where she can run with the horses and hunt wild rabbits daily. Her joyful reaction when she saw her owners, Vic and Karen, confirmed that we had made the right decision.  

As I write this, I am on my way home from returning Nibs to her family, confident that we are one step closer to finding a cure for neuromuscular disorders.

The past several months have been surreal – for the first time ever a treatment for myotubular myopathy may be within reach. I am so grateful to Nibs for the 12 gifts she has given us. The researchers are learning more about neuromuscular diseases from dogs that carry the gene than they ever have before. Knowledge gained from these animals may one day lead to treatments not only for MTM, but other neuromuscular diseases. It will be a miracle for our son Josh and thousands of children like him if our goals are achieved.   

Thank you for your interest, your hope and your willingness to participate in finding and funding this miracle.