For many families, when getting a diagnosis of Fragile X syndrome (FXS), Fragile X associated primary ovarian insufficiency (FXPOI), or Fragile X associated tremor ataxia syndrome (FXTAS), this is the first time you have heard of Fragile X.
You may not know what questions to ask or have found Fragile X literature full of terms you don’t understand or find unsettling.
The following is from an article by Jayne Dixon Weber. Jayne has been a member of the NFXF team since 2007 and currently serves as the director of education and support services.
What Do I Do Now?
There will be many people whom you will want to tell about Fragile X syndrome. Your doctor, your friends and family, young students at your child’s school—and you will want to be able to describe it in a way they will each understand. We also have printable awareness cards you can use to share with other family members, and for your child or loved one affected by Fragile X.
Your reasons for telling others will be as varied as the situations in which you find yourself:
- You want other children to accept your child.
- Your child might be having a behavior meltdown in public (not always the easiest time to talk to someone).
- Your child may be flapping his arms or repeating a line from his favorite television show over and over again.
- Other people may be staring at your child.
- You just may want to raise awareness.
Learn: 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. Use our website to research the particular information you are seeking. Also check out and download our Fragile X-Associated Disorders Handbook (3rd Edition): A Handbook for Families, Health Care Providers, Counselors, and Educators. What you tell people will vary for each person and for each situation.
Talking to Family
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 FXPOI or FXTAS. It can be difficult to inform relatives about their genetic risk, but, remember that it is not your responsibility to provide genetic counseling or ensure that your family members seek testing.
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.
This could be emotion-packed so a good portion of what you say will depend on where they are in terms of understanding the diagnosis and what they are ready to hear. Start by keeping it very simple and then give them more information as they ask or you think they are ready. Referring them here to the National Fragile X Foundation website—fragilex.org— is always a good idea. If the questions get too complicated, especially around the genetic aspect, have them call us and talk to our genetic specialist.
Send a Letter
We have provided a letter you can send to family members 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.
Talking to Friends
These conversations will most likely be very similar to what you tell your family, only without the complex emotions attached.
Talking to Doctors
Whether it’s your child’s doctor or your own, you might start with how FXS affects your child and then direct the doctor here to our website for more information. Depending on the current issues your child is facing (e.g., sensory integration), you may also want to bring a published article about the topic to the appointment and give it to the doctor.
Talking to Others at School
If you are going to talk to young children, keep it short and simple. If you are not sure at what level to talk, ask one of your friends or neighbors who have a child in the class. If you know a typical child your child’s age, ask her what she would like to know about FXS. Bring a favorite toy of your child’s so the other children see that he is interested in the same things as they are.
You might consider sending a letter (you can use our version above as a starting point) to the parents of the children in your child’s class. Not only will it educate them, but you can give them ideas on how and what to talk about with their own children. As the children get older, gear your talk to what you think they are ready for; you will get a good idea of this by the questions they ask.
Holly Usrey-Roos shares the value of talking with your child’s classmates in her post Finding Hope in My Children.
Talking to Strangers
You will want to keep this simple unless they ask you questions. Know that if you do not feel like talking, you can give them something written. We have created a card to hand out in such situations. It is very simple, business-card size, and it directs them to our website for more information. You might also want to use this card in other situations too because of the website reference. Download the cards here.
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.
Frequently Asked Questions
Should your child be with you when you talk to others? Sometimes you will not have a choice—at the grocery store, for example. At school, use your judgment or ask your child if he wants to be there. He might want to stay in the room when he is in kindergarten but might not when he is in the first grade.
Do you have examples of how to describe FXS? Here are some examples of descriptions of FXS that go from simple to more complex:
- He has something inside his body that makes it work different than yours so while he may be hard to understand when he talks, he likes to do the same things you do.
- It is a hereditary condition, and, in this case, it came from me (his mom). I have a type of Fragile X too. His X chromosome does not work exactly right so it does not produce a protein that is needed for development. Eating more meat will not fix this.
- His X chromosome has extra DNA material on it so it stops producing a protein that is needed for brain development.
What do I do when people stare? OK, OK, I have to admit, I have said, “What are you looking at?” on more than one occasion, but it was to older children (who should have known better), and their parents were not within earshot. I cannot say I was proud of myself, stooping to this level, but it did feel kind of good at the time :-).
My son is a young adult, and as you can imagine, a lot of people have stared at him over the years. I mean, some people have not been able to take their eyes off of him. My daughter and I generally chuckle at these people now because most likely, they have all been told not to stare, but the reality is, my son’s behavior is so unusual—a 6-foot-tall person jumping up and down flapping his arms—that I would probably stare too.
Actually, I do stare because I am trying to figure out how he moves like that without dislocating something. Sometimes I smile at the person and say, “He’s really excited.” Sometimes they nod their head and smile back, but they almost always keep staring.
Be Kind to Yourself
You have complete control. Talk about FXS only when you want to. Some days you will feel like it and some you won’t, but know that there will always be another chance, whether you choose to talk about it or not in a given moment.
You can talk about whatever aspect of FXS you want. You may focus on one aspect because of what someone else observes in your child, but you may tell a close friend about other aspects.
What you say will depend on to whom you are talking. You may say one thing to children, one to other parents and still another to your friends and family. Some days you may go into more detail, others you will not.
The situation will dictate how much information you provide. A talk that has been planned will allow for certain information, but talking to a stranger in a grocery store may lead to different information.
You might want to have responses prepared for when others ask or when someone is rude. You can have a short version and a longer version.
When you talk about your child with FXS, try to emphasize the “person” as one who likes to do many of the same things as other typical people.
Whatever you feel like doing at the time is the right thing. Don’t be too hard on yourself after an interaction. Don’t focus on the “I should have said . . .” You will get better and more confident each time. You will also learn to gauge when you have given a person enough information.
FROM THE AUTHOR
Feel free to share your stories with me at email@example.com. I’d love to hear from you.
Jayne Dixon Weber has been a member of the NFXF team since 2007 and currently serves as the director of education and support services. She has two children—one, an adult son with Fragile X syndrome, the other, a daughter who is an occupational therapist. In addition to assisting with the development of the NFXF’s Adolescent and Adult Project, Jayne authored the book Transitioning Special Children into Elementary School and is the editor for the book Children with Fragile X Syndrome: A Parents’ Guide. She is also the co-leader of the Colorado Fragile X Community Support Network group. Jayne likes to read, enjoys photography, and goes for a walk every day.