When Adam Foye and his parents learned researchers would be devoting time and energy strictly to identifying the muscular disease afflicting the 11-year-old, they were thrilled. And when those researchers were able to put a name to the gene mutation triggering the disease, they were ecstatic.
Now, as researchers work to develop treatments and a potential cure for Foye's form of Centronuclear Myopathy, Sarah Foye, Foye's mother, said she is hoping to reach out to other families who are enduring similar journeys.
"My son was diagnosed with muscle weakness shortly after he was born," Sarah Foye said.
When Foye was a baby, his mother said he was not meeting his muscle milestones. Doctors were unable to identify the issue without doing a muscle biopsy, which Foye eventually had done at 13 months old. While doctors were able to conclude that Foye had Centronuclear Myopathy, since they were unable to pinpoint the specific affected gene, no long-term treatment has been readibly available.
"There really was no treatment available," Sarah Foye said. "The best thing we could do was take care of Adam the best we could."
Still, Sarah Foye said her family did not give up hope that a treatment or cure could be found. In 2006, the Foyes were able to meet a researcher from Boston Children's Hospital who told them about a unique contest. In the contest, researchers, each vying for a $30,000 prize, were tasked with identifying genomes and exomes associated with the illness of a patient.
"They were trying to establish norms for what is disease-causing and what is normal," Foye said.
Sarah Foye said the researchers were able to choose a family and then study the afflicted child, two parents and a sibling to try to identify genetic mutations. In the case of the Foyes, researchers learned that the gene affecting Foye is responsible for making protein in the body.
The terminology and science behind Foye's disease is technical, though his mother is easily able to explain it. But on the outside, his symptoms include mostly weakness and fatigue.
The symptoms do not inflict him in the same way every day. Some days are worse than others even. But now, Sarah Foye said, to be able to put a name to the condition means a lot to the whole family. When Foye's feeling sick, he says, "Oh mom, don’t worry it's just titan."
Sarah Foye said it could be years before a concrete treatment is available. Until then, she and her family members are continuing to network with other researchers and hoping to reach others with the same specific form of Centronuclear Myopathy. They have done this first by working with several organizations to build an international registry, The Congenital Muscle Disease International Registry, that will allow researchers and patients to more easily exchange information and communicate.
Sarah Foye has also launched a Facebook page specifically for individuals with titan-related Centronuclear Myopathy to socialize.