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. The diagnosis of Fragile X can have far reaching genetic and emotional implications for immediate and extended family members. Responses from support and understanding, to denial, disbelief, shame, and indifference, are common. Sometimes when family members learn they may be a carrier for this genetic mutation they feel frightened or overwhelmed by the risk of having a child with Fragile X syndrome. They also may be concerned about Fragile X related primary ovarian insufficiency or FXTAS. These are natural responses to new and foreign information. Coping mechanisms such as denial, or distancing one’s self from a situation that is scary, are normal reactions and can take some time to work through.
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 letter that you can change in any way and send to family members informing them of this diagnosis. It is a Microsoft Word document that can be downloaded and then altered to suit your situation. You can send it anonymously or sign your name and add or delete information as needed. 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 and it is not your responsibility to provide genetic counselling or to ensure that your family members seek testing. Sometimes it works well for relatives to be informed by a family member known to them. Complex situations arise when family members refuse to relay this information to at-risk relatives, and often other members have the urge to step in and “do something about it” (which can help or hurt matters).
Genetic counsellors based in the National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin (phone 01 409 6902) can work with you to develop a strategy for approaching the subject of diagnostic or carrier testing. They also can assist you in identifying at-risk relatives in your family tree.