so overwhelmed...

[Ilovehim89]

I am just so overwhelmed right now. How my sons new pediatrician noticed his facial features right away (I didnt say anything about his face) and wants him to have a fragile x and Down syndrome test done because he had a lot of distinct characteristics in his face of Mosaic DS (which is a little different then regular DS). I just wanted a referral to a neurologist to get his OFFICIAL Autism diagnosis...I got that referall but oh so much more...Now I am going to sit for 1-2 weeks worrying! I know he is still my little boy regardless and I love him no matter what! It is just so scary!! I don't really know what to think right now. The thought of DS never crossed my mind, neither did Fragile X since I had never heard of it. I want to believe everything will turn out fine and the test results will show negative but it is still a scary, overwhelming thing.


With Mosaic DS they don't always show the obvious facial features (they will have some (not always all) of the facial features but not always OBVIOUS ones and sometimes Mosaic DS isn't diagnosed until ages 1-4.
Here is one pic of my handsome man and I know no matter what happens, he will always be my special little handsome man

https://i641.photobucket.com/albums/uu134/carolynnnn_2009/DSCN1613.jpg

 

[mummy3]

I hope you're not waiting too long hun and that he doesnt have either of these conditions. My son was tested for fragile x, as was my husband (ashkenazi jew) so I know how worrying it can be. You have a gorgeous little guy there hun

 

[Ilovehim89]

I hope you're not waiting too long hun and that he doesnt have either of these conditions. My son was tested for fragile x, as was my husband (ashkenazi jew) so I know how worrying it can be. You have a gorgeous little guy there hun

Thank you hun! I appreciate your kind response

 

[twinmom]

I agree that you have a gorgeous little guy, and hopefully you don't have to wait too long for your results.
Just didn't want to read and run.

 

[Lottie86]

Awww he's so cute! I hope you aren't waiting too long for the results

 

[Ilovehim89]

Thanks, ladies. it is going to be a long 1-2 weeks

 

[sun]

Lots of hugs Your son is certainly a gorgeous little man

 

[Pink-Mummy]

What a horrible wait for you. Your son is absolutely delicious by the way. :wink:

Hope the two weeks pass as easily and quickly as the possibly can for you all. xx

 

[Midnight_Fairy]

I remember waiting, its just awful. I think your son is beautiful!

Just stay strong hun xxxx

 

[velvetina]

I am sorry you have got such a long wait for something that you were not even expecting. I have found in my time that sometimes the wait and the fear of the expectation is sometimes worse than than the results, because you feel so helpless and out of control not knowing.

One of my friend's son spent a long time having genetic testing for suspected mosaic downs, it was felt he had several characteristics, one I remember being the creases on the palms of his hand. My old neighbour (who I still see) has a daughter with Fragile X, it is in her family.

It is difficult enough dealing with a diagnosis of autism and everything that brings, without the possibility of another disorder to deal with as well. I hope the time passes quickly and those overwhelming feelings settle to help you deal with the results when they come.

I do have to say your little man is very very cute. x

x

 

[Ilovehim89]

Thank you so much, ladies. I just wish it didnt take over a week to get the results.

 

[_Vicky_]

No experience at all but we had to have my son tested for Duchennes Muscular Distrophy and the wait for the results almost killed me.

I just wanted to say your son is beautiful and to send you big hugs xxxxxx

 

[Ilovehim89]

Thank you! I just want answers on what is going on...At least with the blood work we will be one step closer to a diagnosis. The people who eval. him said it was Autism but then his new pediatrician said he had some distinct facial features of Mosaic Down syndrome

 

[MikaylasMummy]

He is beautiful!I am sorry you are going through this I hope his tests have a positive outcome.x