Developmental Delays

Does anyone here have a child with Rett Syndrome?
Alice had her appt at hypotonia clinic yesterday and the dr mentioned Rett Syndrome. Alice had gone thru every single testing there is under the sun and all had come out negative. With her symptoms and progresses she's made or hasn't made, he thinks the only other option right now is to do another gene test to find out if she has Rett Syndrome. He pleaded me not to google at home but I did and I was so shocked to see such striking similarities in symptoms described for the syndrome. I could have put Alice's name in front of the paragraph and it would have been the very description of Alice.

Alice was meeting most of milestones initially, appeared to be developing properly then all of a sudden slowed down around 9 months
-poor head growth (Alice was born with a normal head circum. Then at around 9 months, the growth stopped and is now under 5th percentile.)
-hypotonic, can't crawl yet
-involuntary hand movements
-has difficult time chewing
-constipation
-grinds her teeth (she grinds her teeth daily!!!)
-general lack of interests
-delay in expressive, receptive language

She will get her blood work on Monday. I'm so scared not only for Alice but also for the baby that I'm carrying especially because it's also a girl. R.S. happens exclusively in girls although recurrence is very unlikely.

At first, I found some strange peace in that now we might finally be getting an answer or a dx, rather, but a part of me is grieving more than ever. I sort of see what her future will be like and it saddens me so greatly. At least I had hopes for some miraculous cure or catch-up not knowing the dx but now if we get a dx, I wouldn't have that anymore. I'm not doing so well with this news. The results from the blood work will take about two wks, they said. I don't know how I will get myself occupied until the results come out.

Depending on the results, I might need to repeat the amniocentesis. I had one done about two wks ago and the results for Down Syndrome and Trisomy 13 and 18 came out negative. They probably don't have the cells anymore to check the Rett Syndrome. I'm 19 wks preg. My head is spinning like crazy. Please pray for my baby and Alice.

Soojung

Hi Soojung-
I am so sorry this is stressful on you.
When Devon went to the new neuro at NYU @3mos. ago. He ran off a list of tests per protocol for kids w/global delays - which includes Retts and Fragile - X. We didn't run the FX test b/c dh and I previously had carrier testing which included FX and was we are not carriers.

Its been 3 mos. and no words. I've been too chicken to call for results. I called the office last week for other matters regarding her upcoming mri and they did not mentioned anything. I emailed the neuro about the poss. of repeating her EEG after her mri (he doesn't want to at this point) and he didn't mentioned anything.

He didn't examine Devon thoroughly, just asked milestones/family history/pregnancy/labor+delivery questions.

Long story short. He may have suggested Retts to be ruled out b/c he is running down a list of possibilities.

I will pray for your sweet girl.
Mary

Soojung - I'm sorry. I know you're very frightened. Megan has been tested thoroughly for Rett's, and she was negative. She too fit all the descriptions when she was younger. What I've found is that a lot of our kids can fit a lot of the genetic syndromes when they are younger. That's why geneticists like to continue to see kids as they get older because the syndromes become more apparent - either that they have it, or definitely don't. My guess is that your Dr is being thorough, but chances are very good that your child does not have it. I'm praying that the test is negative. That's great that they think they will come back in 2 weeks.

And yes, there are a couple of people that are or have been here with a Rett dx.

And Mary? Call your dr and get those results! All of ours came back in 6 wks to 2 months. I'm sure they are negative or they would have called, but cross off one thing on your list to worry about girl.

good luck.

I know it's such a nervewracking time right now.  We also had the test done to rule another thing out.  Chances are your Dr. is just trying to rule it out and not doing it because he thinks your dd has it.  Someone else on the board just got a Rett diagnosis...She recently posted on the couch.  Alot of the things you listed about your dd could be due to hypotonia.  There was a time I was sure my dd had Rett.  Mostly because she was (still is) non verbal and didn't use her hands well.  As she's grown we'ver learned that alot of her hand issues are sensory and tactile defensiveness.  As she's grown she's become alot more coordinated.  18 months-30 months was a really worrisome time.  I read about alot of syndromes and freaked myself out.  My dd is now 4 1/2 and still doesn't have a diagnosis. 

Enjoy your beautiful girl while you wait for the results.  It took about 6 weeks or so for us to get our results.  Mary...your Dr. should have the results by now.   That's a really long time to wait! 

I'll be thinking of you,

Hi Soojung --

I'm going to side with the rest of the folks here and say that your dr. is first and foremost trying to rule things out. We had the same thing happen to us. Our geneticist said he was going to check Noah for Angelmans. So, I googled. And I freaked. Because Noah has, well, most of what is on an Angelman's symptoms list. Our therapists assured me that he was too engaged to be Angelmans, but I still was convinced. The two tests for Angelman's came back negative and while there are a few kids who get a clinical diagnosis, this is a pretty small part of the population. So, I've got to let it go. I read on a blog once written by a woman with a little girl with liver disease who asked the question: why is it that all positive tests seem absolute while we don't believe negative test results? I guess because of these lists of symptoms...which are just that, a list of symptoms. Just as if you had what you thought was a cold, looked it up on google and saw that you could have lupus or hepetitis or what have you. Just because Alice has all the symptoms of Retts doesn't mean she has it. So...my hypocritical advise?? You can't do anything about it now while the tests are being run...so it is best not to worry about it. I know know know that that is easier said than done. And I have done my share of worrying, but always at the end, regardless of whether it is a positive or negative result, the worrying didn't do any good. You know?

I wish you all the best,
Sally