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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 Franco Sarto Womens Christine Wide Calf Riding Boot Black iCqlgIxS2
.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:

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

Top Ten Things To Do After Your Child Is Diagnosed with FXS

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

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Fall is here and the apples are ripe in Platte County’s! Come celebrate Applefest as we pair seven different types of apples with each of our 7 Weston Wine Company wines. Cost: Just $14/person (cost includes apple wedges, wine and a glass to take home). No reservations needed, just stop by during business hours to tantalize your taste buds! (Sunday 12-5pm)

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Frank's acoustic Americana sounds will keep you entertained! With over twenty years of songwriting experience; Frank uses his songs, his voice and his guitar to share stories of love, family, and personal life experiences. Event URL: riverwoodwinery.com/events

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Riverwood Winery

We are pleased to have Frank Rardon perform once again at the winery! Frank's acoustic Americana sounds will keep you entertained!

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Come enjoy an afternoon with LAP at Race Judicata 2018!Two ways to join the fun:

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The Illinois Supreme Courthas amended the Illinois rule regarding the professional responsibility minimum continuing legal education requirement, Rule 794(d). The Rule will still require Illinois lawyers to complete 6 hours of professional responsibility CLE every reporting period, but, effective July 1, 2017, of those 5 hours, one hour must be devoted to diversity and inclusion, and one hour must be devoted to mental health and substance abuse.

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