Finding the right time to discuss sensitive issues with family members can be challenging. The need to start the discussion is often triggered by significant life events such as getting married, having a baby, receiving a cancer diagnosis, or developing medical problems that are difficult to diagnose. When it comes to genetic disease, there may not be an ideal time to start the discussion, but it’s still very important to do so.
For example, when a baby is born with congenital abnormalities or begins exhibiting developmental delay in early childhood, parents often want to know “What is wrong?” “How did this happen?” “What can we do to help our baby?” and “What are our options for having additional children who are not affected?” To answer questions like these, healthcare providers need to know about the family’s medical history—something that can require gathering information from other family members.
Diagnosing the underlying cause of an individual’s health problems is usually only the beginning of the conversation. A genetic diagnosis may also have implications for family members. The siblings of an affected child may be similarly affected. The parents may be carriers of a gene change that has implications for their future offspring. Other family members may also be at increased risk of carrying genetic changes. In all these cases, genetic information may be important for medical and reproductive decision making.
Sometimes, patients or families might not be ready to talk about the implications for themselves. That is okay too. Geneticists, genetic counselors, and social workers are available to assist with these difficult conversations when the time is right.
For those who are ready, family gatherings may be a good time to discuss the issue of a genetic diagnosis. You may be able to share the medical report about the identified gene change and suggest that other family members share the information with their doctor or seek the assistance of a genetic counselor.
When you speak to family members, it is important to communicate the most accurate information possible. Geneticists and genetic counselors often write a genetic counseling letter explaining the genetic disorder and its implications. This is an excellent way to share genetic information with your family.
Identifying the fundamental reason for an individual’s health problems is usually only the beginning. It often helps the affected individual and family seek the best targeted medical care. It also provides a person with a rare genetic disease the information they need to speak to others with the same disorder. In addition, it can connect the family with an advocacy group that offers information and psychological support. A specific diagnosis can also lead to identifying appropriate clinical trials for the affected individual. Shared information can be powerful in assisting individuals and families as they adapt to the implications of a genetic diagnosis.
In a webinar hosted by Global Genes, Michelle Fox and three other panelists shared strategies they have used to explain genetic disease, challenges they have faced, and resources they have found helpful. The webinar, which can be found on the Global Genes website, focuses on how one can share information on rare diseases with close family members, distant relatives, friends, co-workers, neighbors, teachers, and others within the community.