Freaking out!

[Ilovehim89]

freaking out! He just saw his new pediatrician and she wants to also test him for Fragile x (down syndrome) and his thyroid levels. I am so confused. She says he has some facial features of down syndrome but they are also sending referral over for the neurologist for his seizures and his official Autism diagnosis!

 

[LoveleeB]

Hopefully the pediatrician is just be hypervigilant. Did she say what types of facial features she was looking for? Have you noticed anything that would make you think of down syndrome?

 

[sun]

My LO also got the blood test for Fragile X - it's one of the routine tests they do here if there is any suspicion due to developmental delay or autism or possible chromosome issue. Fragile X isn't downs syndrome though. It occurs mostly in boys and is linked to higher incidence of autism so that may be why they are testing for it. For us it was part of the standard testing because of his delay and also he has some "suspicious" physical features of chromosome abnormality that may or may not mean anything (space between 1st/2nd toe and something about a high palette/lip thing - can't really remember). He tested negative for all the more common chromosome issues though - anything else would require further testing and would be much more rare. xx

 

[Ilovehim89]

Yeah she mentioned she wants a down syndrome test ALONG with Fragile x...but she didnt say it was routine she told me she saw some signs of Fragile X at his appointment today. His long face, how he has seizures, Autism, etc. I know the down syndrome isnt the same as fragile X, they just want both tests done because he has some of the characteristics.

 

[Midnight_Fairy]

Fragile X is not downs syndrome hun. It is a routine test for MOST, just because symptoms (especially at a young age) are similar to autism. My son had the fragile X test and I even convinced myself he had it (though Google etc lol) well he didn't!

Just take each day at a time, dont rely on google (can make you insane!) Just ask the consultant why exactly they are doing these tests x

 

[Ilovehim89]

Fragile X is not downs syndrome hun. It is a routine test for MOST, just because symptoms (especially at a young age) are similar to autism. My son had the fragile X test and I even convinced myself he had it (though Google etc lol) well he didn't!

Just take each day at a time, dont rely on google (can make you insane!) Just ask the consultant why exactly they are doing these tests x

I know it isnt the same as Down syndrome, she is wanting him to get both tests and it is not a routine test here. She told me that he had the FACIAL features of Fragile X and also some that kinda look like DS, as well as the other signs of fragile x. I am just freaking out because he is my little man and am scared for him and people with Fragile x, about 1/3 of the HAVE some form of autism as well.

 

[Midnight_Fairy]

I remember analysing my son and convincing myself he had fragile x, the results took about 5 weeks and I was so convinced I didnt answer the phone to her as I thought he had it, but I think the case here is just remember he is still your boy with or without a label xx

 

[Ilovehim89]

I know he is still my little boy with or without Fragile X. I honestly never even heard of Fragile X til the dr said he had a lot of the traits.

 

[Midnight_Fairy]

No I didnt till they tested him. Dont worry about it all xxx one day at a time. x