As the families get a diagnosis of Fragile X syndrome (FXS), they may not know what questions to ask or have found Fragile X literature full of terms you don’t understand or find unsettling.
Start by gaining an understanding of FXS. Some of the information is very complicated, so it may take some time for you to come up with terminology that others will understand. The diagnosis of Fragile X can have emotional and genetic implications for immediate and extended family members. 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.
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 FXPOI or 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.
Complex situations can arise when family members do not communicate with other 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.
The most important thing to remember is that you are not alone. We may not make the journey easier but will surely be there to support you. Go ahead, reach out, seek help and stay connected.