When Kathy Payette was in eighth grade, she started experiencing unexplained muscle weakness. Over a period of three years in the mid-1970s, she visited several doctors, all of whom were puzzled by her symptoms. When she was 17, Kathy spent a week at the Mayo Clinic with a team of doctors who concluded she had limb-girdle muscular dystrophy.
She accepted the diagnosis. But because it was based on observation rather than genetic mapping (which at the time was still the stuff of science fiction) she understood that she might have something else entirely.
“Over the last 40 years, I have confidently told people that I have LGMD, always knowing deep down inside that at any time a doctor could tell me ‘With the new findings we have, we now think you have’ some other disease,” she says.
So when she learned that MDA Care Centers offer genetic testing for people experiencing muscle weakness suggesting LGMD who do not already have a genetic diagnosis, she jumped at the opportunity.
“I thought at the time it would just be nice to know definitively,” Kathy, now 56 and living in Green Bay, Wis., says.
The results had more of an impact than she expected.
“Much to my surprise, when I received the phone call it was like a weight was lifted off of me. I felt like I found out a little something about who I am that I never knew,” she says. “It really made me smile. It also gives me hope.”
Genetic testing is important for individuals like Kathy because definitive results “will allow clinicians to diagnose and treat individuals with more accuracy as some subtypes of LGMD require different forms of intervention because they are much more likely than others to involve the cardiac or respiratory muscles,” says Valerie A. Cwik, MDA Executive Vice President and Chief Medical and Scientific Officer.
The simple test requires only a saliva sample, which can be collected at any one of MDA’s Care Centers across the country. From there, it is sent to Emory Genetic Laboratory, and within two to three months results are returned to the MDA physician, who then shares the findings with patients and their families.
Patients interested in learning more about genetic testing are encouraged to reach out to their local office, where specialists like Sarah Arndt, who helped Kathy through the testing process, can discuss options.
“My role is to direct our families to the right doctors and resources so they can manage their diseases and get the best treatment possible,” says Arndt, a senior Family Support and Clinical Care Coordinator for MDA Green Bay. “I was so pleased to be a part of Kathy getting answers to questions she’s had for four decades. Helping MDA families is the greatest reward.”
Learning that she has LGMD type 2A has also been rewarding for Kathy.
“Now I know what is causing my muscles to deteriorate and not be able to build up again. More importantly when I look at research articles there is no more guessing if I have this or that type. When researchers talk about different treatments and I see them being developed I can read the articles and relate completely to what is going on in me,” she says.
The genetic testing program is made possible by a grant from Genzyme, a Sanofi company, and in collaboration with Emory Genetics Laboratory. To find an MDA Care Center near you and to learn more, visit https://www.mda.org/services/your-mda-care-center