- Name: This Sunday, Adam Foye, 10, will be featured on the annual Muscular Dystrophy Association’s (MDA) telethon. Adam, a student at , was born with a rare muscle disease known as centronuclear myopathy (CNM). “One out of every 400,000 people have it,” said Adam’s mom, Sarah Foye, 42, “So, it is very rare. We know of, say, 200, families around the world…. In New Jersey there are less than a dozen.”
- Family: Sarah, an occupational therapist, and her husband, Patrick Foye, a physician, have been married for 13 years. The family of three lives in the Pine Brook section of Montville Township. “We just found this house,” said Sarah of the home that brought her and Patrick to Montville when they married. “It just worked out great. We bought it from the nicest people. We loved the neighborhood and it just suited us.” With Adams needs, Sarah is especially grateful for having moved to Montville. “We’ve found the community to be extremely supportive,” she noted. From the schools, to the recreation department, to the library, the Foyes have been amazed by the community’s friendly and helpful spirit, as well as the services provided. “Children like Adam need specialists,” said Sarah. “We have received a tremendous amount of support in raising this child.”
- Centronuclear Myopathy: “It’s like a muscle weakness,” explained Adam. “It makes me like weak and stuff. And, if I get a cold, it’s a lot worse than normal. Sometimes I have to go to the hospital.” CNM is a genetic disease that causes the nucleus of the muscle cell to be displaced. “There are these little dots (the cell’s nucleus) that are supposed to be on the side but mine are in the middle,” Adam said. Until recently, diagnosis was made by taking a biopsy of the muscle and looking at it under a microscope. “It’s literally named by the appearance of the muscle under the microscope,” Sarah said. “The nucleus of the cell is in the center, instead of at the side of the muscle where it belongs. So it kind of impairs the function of the muscle.” The symptoms include muscle weakness and other physical complications. Some patients have liver and blood problems. Many use feeding tubes and ventilators on a daily basis. Some cannot walk. Adam doesn’t have all of those symptoms. However, he does attend public school with a full-time nurse who makes certain that his medical check list, known as his “Daily Check List of Success,” is met. “They’re all important,” said Sarah as she pointed to a clip board with roughly twenty reminders. People with CNM have diminished resistance to infection. Their weakened lungs, in particular, are susceptible to respiratory failure in the face of a cold. Last year, a routine case of strep throat sent Adam to the hospital. During the H1N1 epidemic, he missed 6 weeks of school. “It was a major risk,” explained Sarah. “Immunizations save children like mine,” Sarah said of the benefits Adam receives as a result of mass immunization.
- The Diagnosis: When Adam was an infant, Sarah noticed he was not meeting motor miles stones like raising his head and rolling over. In fact, he wasn't very active at all. “I didn’t do that much when I was a baby,” said Adam. At first the Foyes and their pediatrician hoped Adam would outgrow the condition. But once he had a muscle biopsy, they realized CNM would be something he would have to manage throughout his life. A genetic disorder, there are many types of CNM. Research is moving in the direction of making DNA diagnosis possible. In the future, muscle biopsy may be eliminated all together. Currently, however, many CNM patients, like Adam, don’t have a genetic diagnosis because not enough is known. Not knowing exactly what gene is responsible for different forms of CNM makes the disease harder to study, treat or cure. “Having a genetic diagnosis is so important,” said Sarah. To that end, Sarah, Patrick, and Adam, are very active in research, studies, and treatment programs throughout the world. “My blood is in France,” noted Adam. Both Sarah and Patrick sit on several boards and advisory committees. They are active with the MDA, and the Joshua Frase Foundation. The family travels the world to assist in fundraising, medical initiatives and education for families. This past summer they attended conferences in England and Minneapolis. In the United States they helped to launch several initiatives to aid in research, education, and treatment development.
- The Treatment: The Foye family is involved in encouraging drug companies and researchers to develop better treatment, and, ultimately, a cure for CNM. “The first question a drug company asks is what kind of market is it?” said Sarah. Thanks to the internet, families facing the treatment of rare diseases have more support than ever before. From the US to Europe, from South America to Australia, and every point in between, the Foyes have built an on-line network of families and researchers. “Moms connecting with moms,” Sarah said. “That’s very powerful.” To that end, the Foyes are working with many organizations to launch a world-wide registry, known as The Congenital Muscle Disease International Registry (CMDIR). It is a way of sharing information between researchers and patients. In this way the Foyes and other families hope to answer questions like: “How many patients do you have? How organized are you? How can we access the patients?” explained Sarah. “This is the first step. We need to organize so that we can have answers to those questions.” The registry is also a communication tool. While patient information is anonymous, researches around the globe, who are looking for certain genetic or other criteria, can see how many CNM patients possess that quality. Then, through the registry, patients can be notified of studies and other medical trials. With that knowledge patients can determine if they would like to be involved. The Foyes have also recently helped to launch The Congenital Muscle Disease Bio Bank. “We are actually collecting DNA,” explained Sarah. The DNA tissue is banked for researchers to use in testing and studies. It is housed at the National Institute of General Medical Sciences, part of the National Institutes of Health, at Coriell Institute for Medical Research in Camden, NJ. “We had 15 collection kits at the [national] conference and we ran out of kits,” Sarah said. “So it was a huge success.” Additionally, the family is instrumental in launching the Natural History Study. Because so little is known about this rare disease, this project is designed to gather information on the natural course the disease takes in individuals, and compile that information for future research and understanding.
- Time: Sarah works as an occupational therapist in Boonton Township 4 to 6 hours each week. In addition she spends 10 to 20 hours connecting with others about research and fundraising for CNM. “Sometimes she spends all day on it.” noted Adam. In addition, Adam and his family often travel to Boston to work with Dr. Alan Beggs, a specialist in pediatrics and genetic research at the Children’s Hospital of Boston.
- Favorite Thing About Montville: “The schools are really good and there are a lot of parks,” said Adam. Sarah agrees. “I would have to say my favorite thing is the school, too,” she noted. “And also the recreation. Their recreation programs are great, and the people there are very supportive. They have a lot of programs for Adam, and they’re very accommodating to Adam.”
- Something You Would Change: “I would love to see a bike path, like a bike lane,” said Sarah. The triathlon athlete rides 12 miles at a time and finds the busy roads dangerous. “There’re a lot of bikers, if you notice, around here.”
- Hobbies: Despite muscle weakness, Adam is very active. He swims almost every day, and likes to “draw dragons.” The family has a pool for his use in the summer. “He feels so free in the water,” explained Sarah. In addition to biking, Sarah’s hobbies include scrapbooking. But, Sarah’s passion is CNM. “If I have any free time it is spent working on this,” she said. “She has 5,000 contacts on her e-mail,” added Adam.
- Other Activities: Adam volunteers at MDA in a program called Little Voices. He personally calls donors and thanks them for their support. “He lets them know that their contributions make a difference,” Sarah said.
- Philosophy: “I guess I am a positive person,” said Sarah. “You can look at the circumstances of your life and create something powerful.” Adam added that his philosophy is “Happy.”
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