When Andrew Boychuk was in his early to mid-teens, he started experiencing unexplained muscle weakness. A few years after that, his doctors determined he had a form of muscular dystrophy, and then he received a diagnosis of limb-girdle muscular dystrophy (LGMD).
Although he was experiencing physical symptoms and eventually reduced mobility, Andrew went about living his life. Now retired, Andrew, 56, practiced law for many years, focusing mostly on corporate law. About 10 years ago, he began freelance writing and has done work for Yanni, a contemporary musician, composer and record producer.
Four years ago, Andrew and his wife, Pam, moved to Palm City, Fla., and that’s when he contacted MDA. From there, the local MDA staff connected Andrew with the MDA Care Center team at the Kessenich Family Center at the University of Miami.
And at that point, nearly 40 years after his initial LGMD diagnosis, he learned about MDA’s LGMD genetic testing program.
“Everyone at MDA has been just awesome,” Andrew says. “They were the ones who told me about [the testing] and arranged everything for me.”
In 2016, Andrew underwent genetic testing, which is provided at no cost to individuals and families who are registered with MDA, and learned his disease subtype: LGMD2A.
“Knowing the subtype has been a tremendous help and is important for several reasons,” says Andrew, who uses a power wheelchair for mobility. “I’m 56 years old and until the test was done, I had no idea what type I really had. I have two children, and we now understand how the disease is passed on and the risk of their future kids inheriting the disease. It also helps to know whether there are any new treatments or therapies that may be beneficial for me. Along those lines, I now understand how the disease is likely to progress and what my family and I can expect health-wise in the future.”
In 2015, with support from Sanofi Genzyme, MDA launched the LGMD genetic testing program in partnership with EGL Genetics. Since then, more than 2,800 people have submitted DNA samples through MDA Care Centers and MDA Care Affiliates to EGL Genetics for testing.
Through the program, individuals with limb-girdle muscle weakness can be tested to find out if they have one of the known subtypes of LGMD or any of a number of other disorders that can sometimes cause similar symptoms.
Genetic testing is important because a definitive diagnosis is the first step to effectively managing an individual’s neuromuscular disease. It can ensure the most appropriate treatment strategy, best outcomes and access to clinical trials or disease-specific patient registries.
The simple test requires only a saliva or blood sample that can be collected at any one of MDA’s Care Centers or Care Affiliates or by your local physician. From there, it is sent to EGL Genetics, and within three to four weeks, results are returned.
Individuals interested in learning more about genetic testing are encouraged to reach out to their local MDA office, where MDA Family Care Specialists like Karina Lambertini, who helped Andrew through the testing process, can discuss testing options.
“Making a difference in our families’ lives every day became real to me when I heard that Andrew was able to obtain a confirmation of his diagnosis through our MDA Care Center at the University of Miami and our free LGMD genetic test,” Karina says. “We guided him from the beginning, and it makes me so happy knowing that he will now be able to be part of clinical trials.”
Andrew has never let LGMD get in the way of pursuing his professional and personal goals. But he’s grateful for MDA’s testing program because he is now armed with critical information about his condition, and he doesn’t have to guess anymore about what exactly is causing his muscles to deteriorate.
“It isn’t always easy, but life is beautiful and really anything is possible,” Andrew says. “No one should put limits on themselves or let anyone else define them.”
To find an MDA Care Center near you, click here. Go to the “Find MDA in Your Community” box, and type your state or ZIP code. For questions and one-on-one support with one of our trained resource specialists, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.
Learn more about MDA’s LGMD genetic testing program.
