Fragile X Syndrome test results

[Maisie]

The results are in.

Tom (aged 17) does NOT have Fragile X and is NOT an carrier!

Ashleigh (aged 14) does NOT have Fragile X and is NOT a carrier!

James (aged 2) is a carrier but only just! His score is really low and they said his problems don''t stem from anything to do with Fragile X.

I am really relieved. Obviously we need to have further investigation as to why he doesn''t speak - but ruling out Frag X is a really good thing!!

 

[treysar]

Hi Maisie – I haven’t been following your story, but I saw your post today. First of all, good news about the testing.

I just wanted to say that my nephew has a problem speaking and what they found was that he has Dyspraxia. Once they determined this they were able to give him therapy and it proved to be very helpful.
I just thought I would share in case this would help you.
J

 

[Delster]

Maisie this is great news, I''m delighted for you.

 

[Lorelei]

Fantastic news Maisie!!!

 

[Eva17]

Maisie, I am very happy for you.

I don''t know how things work in the UK, but in the USA you can get early intervention services that come to your home. The earlier the better. Depending on what the special needs are, the intervention can be amazing.

Good luck to you and your beautiful family!

 

[chrono]

I am very relieved. I''ve been following your thread and had been worrying along with you. At least this one is ruled out.

 

[crown1]

 

[Skippy123]

Thank goodness Maisie. I am so happy; that is wonderful news

 

[Kaleigh]

Oh Maisie that is great news!!!!

 

[Ellen]

YAY!!!! I am so glad Maise, and I can imagine how relieved you are!

 

[ellaila]

Congrats, Maisie!! You must be giddy with relief!

Here''s hoping the vertigo goes away now soon too!

 

[Dee*Jay]

That's wonderful Maisie!!!

Would it be in bad taste to post a joke here? (If so, please skip the rest of my post... )

There was a wonderful family, mom, dad, and a lovely little boy. The only thing was the boy was six years old and had never spoken a single word. One morning his mom gave him a bowl of oatmeal for breakfast and he took one spoonful and broke into a stream of explatives (!!!), the gist of which was that is oatmeal was just WAY TOO HOT. His parents were astounded to say the least. Once they regained their composure they said to him, "Dear, how come you haven't said a single word before this?" His reply was, "Up until now everything's been perfect."

So, Maisie, my take on this is that James' world is so perfect he just doesn't feel the need to speak. But hoa boy--when that day comes... !!!

(And seriously, Maisie, I am absolutely NOT making light of your situation in ANY WAY. I just think of this joke so frequently when I see your posts about James and I can't help but think how lucky he is to have a mom like you and that his life is just so perfect he hasn't felt the need to speak up yet.)

 

[Sha]

Hi Maisie,
I''ve been following your story as well and am happy to hear the wonderful news! That must be such a relief for you and your family!

 

[jas]

Congrats!

 

[Ellen]

Dee, cute joke!

Maise, I want to think I told you this before, but can''t remember, and Dee''s joke reminded me again.

I was the baby of 3 (and many years between me and sis) and I pretty much didn''t speak til I was 3, same thing with my baby of 3 also, he rarely said a word til just after turning 3. Why? I don''t think either of us HAD to.

 

[mrssalvo]

maisie, that is just wonderful news for you and your family. I know how relived you must be.

cute joke deejay.

 

[jcrow]

oh masie!! i was so tempted NOT to open this thread fearing bad news!

i''m SOOO happy i did!!! that''s fantastic news

i know it''s not the end of testing for the little one, but at least some questions have been answered.
hang in there!

 

[ephemery1]

Maisie what wonderful news!!!

You must feel such a huge weight lifted from your shoulders...

As for James not speaking, there is SOME correlation (largely anecdotal) between high intelligence and late speaking... might be something to consider. I can't remember all of James' other symptoms so really can't judge... but have done most of my graduate research in the area of giftedness, so if you think it's a possibility, I'd be happy to explain more!

ETA -- Just to be clear, giftedness is most often associated with early speech and reading.... but there are a fair amount of cases out there where a child spontaneously started speaking in full sentences at the age of 2 or 3, after barely speaking at all before.

 

[tulip928]

Yay Maisie!

Maybe James is just too busy listening to everybody else!

My middle child at age two was not speaking and my mother-in-law was certain she needed her tongue clipped. Her speaking was mimicking speech patterns, but not words. You''d never know it today. Once she started speaking with words, she never stopped. She''s now 27, and never at a loss of words and you''re lucky to get a word in edge-wise with her.

 

[KimberlyH]

Maisie,

What wonderful news! I''m so happy for you. Please do let us know what they discover about James.

~K

 

[VegasAngel]

Excellent News!

 

[Tacori E-ring]

Very good news!!!

 

[diamondfan]

Maisie, I am sooo relieved for you. Now you can concentrate on what is up knowing it is not that. There can be many causes, all of which can be dealt with, for a child not speaking. And a friend of my sister''s literally did not speak til she was 5, and they had done through tons of tests, and nothing was found, and she basically said she had had nothing to say til then. Now, of course, that is not a typical situation, but still....

You must be so relieved that it is not Fragile X!

 

[mercoledi]

Hooray Maisie! You must be so relieved. I hope the rest of the testing is far less stressful and that little James becomes very chatty very soon.

 

[divergrrl]

Maisie: I had a feeling all would be well regarding the fragile X and James! And how wonderful that your other children have been tested & you can relax & breathe a little easier now! I am SOOOO HAPPY for you, and especially so for James..

***big hug****

 

[eks6426]

Good news. I''m so happy for you.

My sister didn''t speak at all until she was almost 3. My parents were frantic. Lots of testing. But they found nothing. Then one day my mom was looking for her shoes. She was running around the house. All of a sudden my sister spoke up and said, "My shoe are behind the door." Her very first words. Later my sister said that because I (who was about 2 years older) did so much talking that SHE didn''t need to. Sadly, my sister died from complications of measles a couple years later so I can''t tell you how she turned out as an adult.

 

[strmrdr]

awesome news!!!

 

[allycat0303]

Maisie,

I think this is the best news you could expect. I''m thrilled for you!

 

[isaku5]

So so happy for you and your kids!!!!

I have been following your thread since the beginning and am heaving a big sigh of relief as, being a mom and a grandma, I felt so connected to your worries. YAY!!!

 

[NYCsparkle]

oh thank goodness....i can''t imagine the relief you must feel.....whatever it is you are strong enough to get through and deal with...hugs