Easter Picture

Newly Diagnosed

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 they have heard of Fragile X.

Sometimes you don’t know what questions to ask or have already found the Fragile X literature full of terms you don’t understand or find unsettling.

We’re here to help

At any time please feel free to call us at 800-688-8765 or email the staff here at the National Fragile X Foundation at treatment@fragilex.org.

Also contact your nearest family support group, called the NFXF Community Support Network. Though you may feel alone at this time, it is important to know that many have come before you and are eager to help.

Fragile X Disorders Handbook

Our handbook “Fragile X-associated Disorders (FXD): A Handbook for Families, Health Care Providers, Counselors, and Educators” is available to you via download.

Informing Family Members

Informing Family Members, both immediate and extended, can be a complex process. We have a special section to assist you in the process. It includes family support information and suggestions, as well as a sample letter, to help with informing and explaining Fragile X and its inheritance to family members.

The NFXF has help for all the Fragile X-associated Disorders

We can give you information about treatments, educational strategies, therapies and intervention so your child will become an active member of his or her family, school and community. We also provide help and information about other Fragile X-associated Disorders such as FXTAS and FXPOI. Call us at 800-688-8765 or email us at treatment@fragilex.org.

The National Fragile X Foundation maintains a comprehensive list of Fragile X evaluation and treatment clinics in the United States, called the Fragile X Clinical and Research Consortium (FXCRC).  We can also help you to determine which clinic offers the services most appropriate for you and your family. Contact us at 800-688-8765 or at treatment@fragilex.org.

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.

This 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

There will be many people whom you will want to tell about Fragile X syndrome (FXS). 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.

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; or you just may want to “spread the word.”

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. What you tell people will vary for each person and for each situation.

General Thoughts

  • 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.

Situational Responses

Family

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 to the National Fragile X Foundation website is always a good idea. If the questions get too complicated, especially around the genetic aspect, have them call the NFXF and talk to our genetic specialist.

Friends

These conversations will most likely be very similar to what you tell your family, only without the complex emotions attached.

Doctor

Whether it’s your child’s doctor or your own, you might start with how FXS affects your child and then direct the doctor 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.

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 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. Also included is a podcast and outline that is designed to give you the skills and confidence to present the topic of FXS to your child’s classmates.

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. The NFXF has 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. Contact the NFXF to get some.

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.

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.

And when others 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.

This can be a tricky topic, but I am confident you will find what works for you. For more information or ideas on what to say, email me. We’ll have fun coming up with something.

Author

Jayne Dixon WeberJayne 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 CSN group. Jayne likes to read, enjoys photography, and goes for a walk every day.


Feel free to share your stories with me at treatment@fragilex.org. I’d love to hear from you.

I hear a version of the statement in the headline above virtually every week. Sometimes it is, “Can you find me a doctor who has at least heard the words ‘Fragile X?’”

The reality is that few doctors know about Fragile X syndrome (FXS). Most will see only one, maybe two patients (or families) with FXS through their entire career—and one of them will be yours. But don’t be discouraged. I do have ideas for you.

Let’s say your child has just been diagnosed, and you would like to find a doctor who is familiar with FXS. My first question is: “Do you like your current doctor?” Hopefully, most of the visits when your child is young will be related to just being a child—immunizations, colds and the like.

While conditions such as ear infections and hernias are more frequent in those with FXS, they can be handled by any competent doctor. If you like your doctor, don’t necessarily give up just because he or she may not be familiar with FXS.

Of course, you do want a doctor who is willing to learn about Fragile X syndrome—right along with you. You can jumpstart the process by giving him some basic information, perhaps starting with a link to fragilex.org. We also have a basic handbook we can send directly to your doctor if you’d like. Soon enough, you will have him thinking that FXS is the most interesting thing he has ever learned about. I am only slightly exaggerating, because the fact is that FXS is interesting and very different from most everything else he confronts in his everyday practice. You (and your child) are going to provide him with new tidbits of information every time you see him. Pretty soon he will be searching on his own.

Your goal is to have you each bring complementary information to the exam room. Your doctor will bring the textbook-ish kind of information, and you will put a face to it—one that comes with living inside FXS 24/7. You will show your doctor that FXS is more than a list of characteristics, many of which are not very flattering by conventional standards. Fragile X syndrome is instead a child, a brother, a friend, a family. It also makes for a pretty cool kid.

What I want you to do is build a local support system for yourself and your family. Look at your child’s doctor as one person in this support system, and utilize the knowledge she does have. If your child needs speech, occupational, and physical therapies, your doctor can give you recommendations and referrals. Have her help you “fight” the insurance battle if you have a problem with that. Your doctor should also know of other doctors should your child need them—ear, nose, and throat doctors, neurologists, and psychologists, to name a few.

What if the issues get bigger? Seizures, behavior issues, medications. At some point—and I recommend you do it sometime when your child is young—you will want to tap into the Fragile X knowledge base by visiting one of the Fragile X Clinics.

There are currently 26 of them in the U.S. Rest assured, not only have the doctors there heard the term Fragile X, they have daily experience with it. What is even more exciting is that they regularly share with each other the knowledge they gain in their clinical and research work. While these clinics are valuable for annual or even less frequent visits, the important point is that they become an additional resource and support for you and your local doctor.

If you still want to find a doctor who knows something about Fragile X syndrome, here are some avenues to pursue:

  • Contact the NFXF. We do have a database of doctors who say they are familiar with FXS, but I should warn you, there are not a lot of them, they are mostly in big metropolitan areas, and they are not in every state.
  • Contact your local Community Support Network. LINKS is a network of volunteer groups who can help you find local Fragile X resources.
  • Try the Fragile X Facebook Group A large community exists on Facebook. Post your question there and see what response you get. (Here is the FXTAS group)
  • Contact your local disability organization. If you do not know it, ask the people where your child receives services if they know the name. (This is an organization you need to get to know.)
  • Contact your local Arc. The Arc used to stand for Association for Retarded Citizens but ever since “intellectual disability” became the preferred term, they simply go by Arc. You can find your local chapter by searching the web for “Arc of (your state)” and then clicking on “Chapters.” (This is another organization you need to get to know.)

You never know—you may end up finding a doctor who knows Fragile X syndrome. (And by the way, if you do, ask if we can put her contact information in our database. Have her send us an email…Please!) You should at least be able to find one who is comfortable with people who have developmental disabilities. If you work through the list above without finding a doctor, look on the bright side: you will have at a minimum expanded your support system!

I suspect some of you may be thinking you don’t have much choice in doctors, either due to insurance limitations or because you live in a small town. So let me say this: I do not think it is essential to have a doctor who knows about Fragile X syndrome. You just have to find someone who is willing to work with you, because that is the most critical factor in ensuring quality care.

If it makes any of you feel better, I just found out my son’s pediatrician is retiring. “We” have had him as a doctor for 19 years, and while I was usually the one to take information to him, he was always there when I needed him. I am not looking forward to searching for a doctor for my now adult son, possibly starting this education process all over again.

Maybe I’ll call support services at the NFXF…wait, that’s me!

I’ll let you know how my search goes. If you have topics you would like to see covered in future columns, please send me an email: treatment@fragilex.org

Your child has just been diagnosed with Fragile X syndrome (FXS). Where do you begin?

  1. Contact us here at the National Fragile X Foundation
    Call the National Fragile X Foundation (NFXF) at 800-688-8765 or email treatment@fragilex.org or visit the website: fragilex.org.
    When you’ve looked over the website home page, here’s a good place to go next: For the Newly Diagnosed. Calling the NFXF will help you realize that you are not alone, offering you great comfort at a critical time. It will help you relax into what is ahead of you.
  2. Make an appointment to visit a Fragile X Clinic
    When you go to a Fragile X (FX) clinic, you will not hear, “Fragile what?” The FX clinics are staffed by experts who can answer your questions. It’s like getting a whole team on your side of the field after you feared you’d be alone.
  3. Contact your local Community Support Network group
    Community Support Network (CSN) groups offer support, resource, and networking that can help you in a variety of ways: They know health care and education professionals in your area; they organize family activities and mini-conferences; and they are there to provide support in whatever way you need. They are people who understand your journey.
  4. Join Facebook and ask to join the Fragile X Group
    You can be as active as you want to be on Facebook. You can read what others have written, get ideas and resources, post questions for others to answer, and establish relationships that can become great sources of support to you—and perhaps last a lifetime. All with just some clicks of your keyboard.
  5. Get early intervention
    Most states offer early intervention services for infants, toddlers and preschoolers, including evaluations for physical therapy, speech therapy and occupational therapy. If your doctor doesn’t tell you how to get this started, call your local school (or school district) or state office that provides services for developmental disabilities.
    Studies show that early intervention is important; you begin to learn what to do to help your child learn and progress to the best of his or her ability.
  6. Build a team of professionals to meet your child’s (and your) needs
    This can begin with a developmental pediatrician, neurologist, geneticist, psychiatrist, and case worker, in addition to members of your early intervention team.
  7. Talk to your case worker about resources
    Talk to your case worker about insurance, Medicaid (waivers), and other resources in your community that offer programs and services for children with disabilities. This will help you help your child in very important ways.
  8. Learn basic sign language
    Learn basic sign language, especially for key words like “toilet, food, drink, more,” etc: First 100 Signs.
    Signing will help your child learn to better communicate, especially if he or she is non-verbal.
  9. Go to the NFXF International Fragile X Conference
    When you go to a conference you will learn the latest information about the condition and get connected to many people and resources that can help you on your Fragile X journey. While the conference can seem overwhelming at first, you will meet the most welcoming group of people you have ever met.
  10. Read “Welcome to Holland
    When you have a child with a disability, it means your life will be a little different than what you were planning or expecting to happen. Not bad, just different.

Helpful Words of Advice From Other Parents

The following is a summary of ideas/suggestions/encouragements from parents that were posted on Facebook in response to a question. Thank you, Fragile X community. You are the best!

  • Breathe. Keep in mind that your child has really not changed. Your child is still the exact same beautiful child he or she was yesterday. The only difference is that you have a name and a reason (diagnosis) for some of the ways that your child is, and some of the challenges he or she will face.
  • Take the time to grieve. It is O.K. (normal and even healthy) to grieve for the loss of what you expected your life to be like. You will still have a great life—it will just be a little different than what you expected. Resolve to write your story for yourself. It will help you heal. Know that grief may cycle back every now and then.
  • Educate yourself about Fragile X. Don’t let yourself get too overwhelmed with what you read. Try to learn a little something each day. Then you can help educate others when you are ready.
  • Get to know your child. Turn off your television, your computer, and your phone. Spend a little time each day seeing the world through your child’s eyes. You will learn so much from your child. Just play with your child and have fun. Laugh!
  • There will be times when you feel sorry for your child. Try not to dwell on it. FXS is all your child knows, and most people who have it are very happy people. Remember that—especially in the difficult times when your child may not be so happy!
  • Don’t worry about the future—focus on the present. When a child is first diagnosed, a parent’s first thoughts are often along the lines of: “Will he live independently? Drive a car? Will the other kids at school make fun of him?” Those things don’t matter right now, so don’t waste time worrying about them.
  • Every child with Fragile X syndrome is different, so what works for one may not work for another. As much as possible, treat your child as if he or she can understand every word you say, because children get receptive language long before expressive language. Never give up on your child. All people—very much including those with FXS—continue to learn through their whole lives.
  • Remember to enjoy being a parent. It’s O.K. not to do “everything.” Being a parent of any child can be exhausting! Do what you can do, do what is good for your family, and be happy with that. Allow breaks from therapies too—it is O.K. You need to be a family. Make sure there is time for just plain old fun!
  • Make time for yourself. Find a sport/hobby/activity that you enjoy and stick to it. Your child will benefit when you are healthier and happier!
  • If you have a spouse, make time for him or her. Continue to build your relationship. Sure, you can be partners in advocating for your child, but you’re partners for each other, too. Don’t forget that.
  • Just love your child. You will find hope. You will find joy.