Planning Your Fragile X Clinic Visit

Why should you visit a Fragile X clinic? Because you won’t hear, “Fragile what?”

If you have never been to a Fragile X Clinic or it has been a while, or if you are having issues with behavior, school, or therapies, or if you want to get involved in clinical trials, we suggest you visit one in the near future.

A young child with Fragile X syndrome playing with balls and toysYou will have the opportunity to meet with a team of people who will be able to provide guidance in many areas of raising your child or children. Just as importantly, once you establish a relationship with the Fragile X doctor, he or she will become a resource for your local doctor.

Once you make that initial visit, we recommend yearly follow-ups. Visiting a clinic keeps you in-tune and hands-on with what‘s going on in the Fragile X world. It also gives your clinic doctor an opportunity to keep abreast of your child’s health needs, which will make it all the more effective when your local doctor has occasion to consult with your clinic doctor about your child.

First, locate your closest clinic by visiting our Fragile X Clinic locator.

Take an Active Role

You will be happier with your visit and get more out of it if you take an active role in the process ahead of time. Before you call the clinic coordinator, think about the concerns you have for your child(ren) or family member, what you would like to know more about, and what you hope to get out of the visit.

Call the coordinator and talk to her about these matters. You are also going to want details of what is going to happen so you can adequately prepare your child. Do not be afraid to ask any question. And before ending the call, I always like to ask the clinic coordinator one last question: Can you think of anything I haven’t thought of?

Here are some questions to get you started:

  1. What does a typical schedule involve?
    Some clinics conduct evaluations over two days, which requires an overnight visit. Others may require only several hours.
  2. In addition to seeing a medical doctor, what evaluations are offered and by whom?
    Examples might include speech, occupational, physical and behavioral therapy, and genetic counseling.
  3. What other specialists are available?
    For example: psychologists, audiologists, neurologists, cardiologists, ophthalmologists, etc.
  4. Can referrals be made to local providers in my area?
  5. After the evaluation, will the medical doctor be available to review and discuss the results that same day?
  6. Will each specialist be available or will the medical doctor review the findings of each specialist with me?
  7. When will a written evaluation/report be available, and will it consist of separate reports by each clinic specialist or one report?
  8. Can I request that the report be sent to my providers, teachers, therapists, etc.?
  9. Who will be available to interact with my local providers to make sure treatment recommendations are clarified, discussed, and implemented?

Other questions you might ask:

  1. What written or online materials will be available?
  2. Can you provide me with a list of state and local resources?
  3. Can you provide me with handouts or articles on Fragile X that I can take back to school personnel, doctors, and other providers?
  4. Will there be a possibility to participate in research?
  5. What kind of insurance does the clinic accept?
    If you do not have insurance, ask if there are alternative payment plans and/or opportunities to participate in research trials.
  6. Do you have recommendations for lodging facilities to meet my needs regarding price, proximity to the clinic, dining opportunities, etc., and do any of them offer discounts for those making hospital visits?
  7. What restaurants, grocery stores and other attractions are in the area?
    You may want to make a mini-vacation of the visit.
  8. Are there any travel grants available to help with expenses related to my visit?
    Also see our Fly With Me Fund information.
  9. Is there an NFXF Community Support Network (parent support) group or other local family you could talk to about the area and about your visit to the clinic?

Make sure to inquire about hotel and transportation/wheelchair issues if needed as well. Also, ask for special accommodations if you feel they would help. For example, if staying in the waiting room is difficult for your child, perhaps the staff can call you on your cell phone when they are ready to see you.

Questions During Your Visit: Your clinic visit is but one step in your family’s long-term education about Fragile X. Please know—and continue to remind yourself—that no question is silly or strange or unwelcome. If you are wondering about something, it is virtually certain that the very same question has occurred to many other people—and Fragile X professionals have probably heard it. Clinic staff are well-informed, trained, and compassionate, ready to answer (or find out the answer to) any question you may have. So please do ask! Typical questions include:

  1. Why does my child/family member do __________?
  2. What can or should I do in these situations?
  3. What can I expect from this type of therapy or medication?
  4. Is it wrong to _________?

What to Bring

The wait to be seen at a clinic varies, but in some instances can be as long as 3-6 months, so you’ll want to be prepared. Each clinic has an intake form for which you will most likely need the following:

  1. Information about your immediate and extended family, including diagnoses of any individuals—living or deceased—with developmental delays, behavioral disorders, neurological disorders (including late onset conditions), fertility issues, and any genetic testing that has been done.
  2. Photos of any family members who may have FXS.
  3. Information from baby books, scrapbooks, and journals that would note ages of developmental milestones, illnesses, medication (including any reactions), therapeutic interventions, etc.
  4. If your visit is for FXS, bring genetic test results, medical or psychiatric records, psychological, speech and occupational therapy evaluations, and any other records from the school and teachers.
  5. If your visit is for FXTAS, bring MRI reports, neurological and/or psychiatric records, and any journal of symptoms and their progression.
  6. If your visit is for FXPOI, bring records of medications, medical, menstrual/pregnancy history, and any questions related to medical management or reproductive issues/options.

For you and your child/children:

  1. Favorite toys, puzzles, blankets, foods and other comfort items for your child(ren).
  2. Books, music, laptop computers, tablet devices, and other enjoyable items for yourself. (Headphones in waiting rooms can come in very handy.)

Preparing for Your Visit

When you plan your clinic visit, be sure to think about the big picture. That most certainly includes preparing your child emotionally. This will be a huge change in routine, including the travel (drive or flight), the actual clinic visit, a possible overnight stay, maybe a second day of clinic visits, the trip home, and then the readjustment back into family life. For most families, this represents a major undertaking.

See if you can build in some downtime during what can be a highly scheduled visit. If at all possible, find some time to visit a park, zoo, or museum, attend a sporting event, go swimming, or anything else your family likes to do.

What to Expect

For this section, special thanks goes to 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. 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.

Visiting a clinic does not replace the need for a local doctor. It is still very important that you have a family physician who can handle the everyday ailments of your child(ren), but it is crucial that this doctor is willing to work with you on your specific issues regarding Fragile X. Once you establish a relationship at a Fragile X clinic, the clinic doctor becomes a valuable resource for your local doctor. You all become a team with all of a team’s advantages.

While every Fragile X clinic is set up a little differently, they all offer similar services. They are staffed by people who understand Fragile X.

Examples of evaluations offered at clinics through an initial intake include:

  1. Medical
  2. Speech
  3. Occupational
  4. Physical and behavioral therapy
  5. Genetic counseling

Additional specialist services may include referrals to:

  1. Psychiatrists
  2. Psychologists
  3. Neurologists
  4. Cardiologists
  5. Ophthalmologists
  6. Dentists
  7. Social workers
  8. Audiologists

After your visit, most clinics will provide you with a written summary of all evaluations that took place, along with recommendations you can take back to your local doctor and/or school district.

Final Words

Here’s what I typically hear from families after their clinic visit:

  • It is so comforting to talk with someone who understands my child.
  • It is so nice not to have to explain everything—again.
  • I don’t have to make excuses or try to explain my child’s behavior.
  • We are like family to [the doctors].
  • With report in hand, my school takes me more seriously.
  • I came home feeling re-energized.

If you have questions about planning your visit, please send us an email, we’d be happy to provide further help.