Informing Family Members

The diagnosis of Fragile X can have emotional and genetic implications for immediate and extended family members. Whether you are sharing a new diagnosis of Fragile X syndrome or informing family members of positive carrier testing results, the information can be met with a wide range of responses.

Responses may range from support and understanding, to denial, disbelief, shame, and even indifference; all are common. The latter responses are natural responses to new or foreign information and “survival” instincts take over. Each person handles this information differently – there is no right or wrong way, but some of these feelings can take some time to work through.

Sometimes when family members learn they may be a carrier for this genetic mutation they feel frightened or overwhelmed by the concern of having a child with Fragile X syndrome or they may be distraught about passing on the gene that caused their child or grandchild to have Fragile X syndrome. They also may be concerned about Fragile X-associated primary ovarian insufficiency (FXPOI) or Fragile X-associated tremor/ataxia syndrome (FXTAS).

On the other hand you may find you receive support and compassion from family members, including those who you may not have been close to before this diagnosis. Sometimes these events can bring people together in their quest for treatment, information, and hope.

Below is a link to a letter you can send to family member informing them of this diagnosis. It is in Word format, and you can download it and alter it to suit your situation. You can send it anonymously or sign your name. We hope this assists you in dealing with the delicate nature of explaining this complex information to family members, some of whom you may not even know.

It can be difficult to inform relatives about their genetic risk, but it is not your responsibility to provide genetic counseling or ensure that your family members seek testing.

Complex situations can arise when family members do not relay this information to other “at-risk” relatives. Genetic counselors can assist you in identifying at-risk relatives in your family tree and can work with you to develop a strategy for approaching the subject of diagnostic or carrier testing.

As you consider your approach to informing family members, please feel free to call the National Fragile X Foundation at 800-688-8765. To find a genetic counselor in your area, visit: www.nsgc.org

View and/or download the letter to inform relatives.

To Whom It May Concern