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Special Needs
Fragile X Syndrome?
Has anyone here dealt with a Fragile X Syndrome dx?
My boys are 13.5mos actual, 11mos adjusted and have GJ feeding tubes because of severe reflux / GERD. They are way way way way way behind developmentally, mostly with their gross motor skills. Today the NICU follow up doctors said they want to consult with a neurologist and have an MRI for both and blood work to rule out chromosomal issues.
Naturally I am an idiot and googled Fragile x Chromosome and now I'm really worried.
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Re: Fragile X Syndrome?
Yes, on the sheet they sent us home with listing areas of work, improvements, next steps, etc. they wrote Continue and Increase PT & OT, Neurology Consult for Developmental Delays, and Blood work to rule out Fragile X syndrome and Karyotype.
Naturally since I didn't know what that was I googled. Shame on me for googling, but I had to know. Now all I know is they want to rule out inherited mental impairment. They said that now the boys are on track with their weight thanks to the GJ feeding tubes there's no reason why they aren't development much faster than they have been.
just look at those cuties - love their names!
Is there a reason why you suspect Fragile X? Was it mentioned by any of the doctors? Family history?
GERD is powerful and until it's well under control, or outgrown can be kind of tough on a LO. The great thing is that there's so much more understood about it now than even a few years ago. GL!
They did not give me anything specific as a symptom to search for the fragile x gene. Only that they are so delayed.
We may not get a Neuro consult until August or January depending on how booked the Neuro is so maybe they will just suddenly "get it".
I don't know. I'm just at the end of my rope now. I'm so exhausted and just want a name for something so we can move on with whatever it is.
We're south of Baltimore, near Annapolis. We have been working with Univ. of MD and also have Johns Hopkins and Childrens National in DC within 40 min from where we live. If the UofMD Neuro can't see us sooner than August I'm going to try the other two hospitals, plus Georgetown which is about an hour and a half away.
I used to have a friend who works for Johns Hopkins. I wish I had her number. If you are near Annapolis, that, obviously is too far to drive for Philly. When I lived in Bel Air it took me about 2 hours to get to Philly.
Typical wait time for nerologists is about 6-7 months. Typical wait time for a developmental pedi can be up to a year. Can the NICU doctor call the neurologist to ask to get in sooner? Our pedi did with the neurologist and the developmental pedi and we got in much sooner.
We saw our first developmental pedi today who recommended the neuro and MRI and blood work. But she's moving to another hospital so we'll see who they recommend to replace her while we wait for the Neuro. Finding good doctors who will care about my boys has been very difficult.
JHU turned us away when we told them we were struggling with reflux,said they didn't have reflux. Now we have GJ tubes. It's always an uphill battle.
After 1 MC 2007, 2 CP, Cade Anthony is here:
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Until they do the test, I would do my best to not jump to the worst. I remember when they tested Jax in the NICU I was trying so hard to not google or panic until we knew what we were dealing with.
We went to Hopkins for Jax open heart surgery and have been there and worked with thier Urology and ENT department. My cousin was operated on there by Dr. Carson, so I would highly recommend looking into Hopkins, we have always been so happy with them.
I clicked on your blog and saw that your little guys are in the same Angel Baby "competition" as my little guy.
They are adorable btw! I bet we live pretty close. I live in Odenton, where abouts are you in Anne Arundel County?
It really is a small world isn't it? I am actually in Bowie, but we do most things in AA co because it's so close. What number is your Little Angel??
Thanks for this info! I am trying to build myself up to read it but I'm also trying to stay calm. Ironically our boys are spontaneous twins and we have no other twins in the family on either side so we're already genetic freaks of nature. They're also the 1 in 100,000 who are allergic to the RSV shot and contrast IV dyes. So I guess anything is possible.
As a special ed teacher, I've worked with dozens of kids with Fragile X. Honestly, just by looking at the (adorable) siggy of your boys, I doubt they have it. Children with Fragile X have distinct facial features and characteristics, especially in boys. Sure these become more obvious as the children get older, but it is also noticable to professionals that are familiar with the condition.
There are new discoveries about the DNA make-up of Fragile X nearly everyday. Because there is such little information about it, doctors are testing anyone that remotely shows symptoms to learn more about the condition.
Additionally, all the families I worked with had more than one person with Fragile X (ex: siblings, cousins, etc). Delays of all sorts are common in twins and the best thing you can do for them is get them in EI. Even a diagnosis of Fragile X is no indicator of their futures. I know a lovely woman with Fragile X who is married and has children. Best of luck to you and your cuties!