A genetic counselor can guide parents through the medical, psychological, and family implications of a genetic disease. Typically, a board-certified genetic counselor with master’s level training in genetic counseling, or a geneticist (a doctor who specializes in genetics) provides this type of counseling.
A professional can educate parents on the disorder and advise them on who else in their extended family may be impacted.
Genetic counselors can explain exactly what testing results mean, discuss possible follow-up testing, and go over specific therapies that are either approved or in clinical trials.
Scientific trials to find a cure and treatments for DMD are ongoing, and genetic counselors can alert parents who are interested in learning more about these options. (Find out more about scientific investigations looking for patients and carriers at PPMD’s Explore Clinical Trials.)
Genetic counselors are usually trained to provide psychological support as well, as having a child with DMD is emotionally challenging for families. They can also refer parents to longer-term psychological counseling and care.
While a child’s pediatrician or neurologist can provide a referral to a genetic counselor, DuchenneConnect allows participants to join a registry to access services such as genetic counseling and genetic testing, and resources to assist in the understanding and development of new treatment trials in Duchenne muscular dystrophy.
For adults or children who are carriers for DMD, signing up with the Duchenne Registry can help advance research by providing a better understanding of the impact of being a carrier and the significance of different types of genetic changes in DMD inheritance.
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