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The care of individuals with Maple Syrup Urine Disease involves a number of medical specialists. Genetic counselors are members of the team who can play an important role in helping a family adjust to a diagnosis of MSUD.

Genetic counseling is "the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease... [it] integrates interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance, testing, management, prevention, resources and research; and counseling to promote informed choices and adaptation to the risk or condition" (National Society of Genetic Counselors, 2010). Genetic counselors are experts on the genetics of MSUD and other genetic conditions, and are also experienced counselors who are able to provide support to individuals and families affected by a genetic disease. The goal of the genetic counseling process is to provide families with accurate and understandable information, and to help them make decisions that are appropriate for their own unique needs.

In most cases, the diagnosis of MSUD is unexpected, and parents are overwhelmed as they are presented with an enormous amount of new information. As genetics educators, genetic counselors are able to break down complicated information into more manageable pieces. They can help interpret the information in a way that is meaningful to family members. A typical genetic counseling session can last an hour or more, allowing time for families to ask questions, address concerns, and ensure a thorough understanding of the issues. MSUD is a genetic disease, and an individual’s diagnosis has implications for other family members. By taking a detailed family history, a genetic counselor can help identify other family members who may be at risk. A genetic counselor can help families think about how to tell other relatives about the diagnosis and what it might mean for those relatives. If relatives that the family chooses to inform have questions, the genetic counselor can meet with them to address their issues.

There are times when a family with a new diagnosis of a genetic condition is not helped by facts and figures, but instead needs to react emotionally to the diagnosis. It can be a confusing and isolating time. A genetic counselor’s role is then to provide supportive counseling to the family, explore the meaning of the diagnosis and, if desired or needed, help arrange other types of support, including private and group support, and other networks to help families adjust and incorporate the diagnosis into their lives.

The role of a genetic counselor can continue beyond the initial diagnosis as the needs of families change. As a child with MSUD gets older, he or she may start asking more questions about MSUD and what it means for them. A genetic counselor can help parents prepare to answer these questions in a way that is appropriate for their child and that encourages further open communication. Parents thinking about having another child may have questions about the risks of recurrence and how to address those risks. Genetic counselors can provide this information and present all the available choices to the parents, such as prenatal diagnosis or pre-implantation genetic diagnosis. Again, the genetic counselor can support a couple as they consider their options and encourage them to reach a decision that is appropriate for their needs. Further, as the body of knowledge about MSUD grows, a genetic counselor can also help families interpret new scientific information and can help them get involved in appropriate research studies, if desired.

In summary, genetic counselors can play an important role in the care of families with genetic conditions through education, counseling and support. To find a genetic counselor in your area, talk with your doctor or visit the National Society of Genetic Counselors website at www.nsgc.org.



Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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