Do you know anything about fragile x - Mothering Forums

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Old 08-29-2010, 06:29 PM - Thread Starter
 
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Does anyone know anything about fragile x. My son who is 3 years old is being tested for this. I dont know much about it but here are his develpmetal problems

Delayed milestones-he meet all his gross and fine motor mile stones late

He is very speech delayed- currently at a 14 month age

He has ataxia

He has SPD

He is delayed in his cognitive, social skills, behavioral skills and self help skills.

He has low muscle tone

He is very flexible

He has recurrent ear and sinus infections (he is on his 4th set of ear tubes and has had sinus irrigation surgery) He is still getting the infections

He has a high arch pallet

He has tremmors in his hands and arms that he takes medication for

he was just recently diagnoses with anxiety also

He wears smo ankle braces

We have had a autism eval done and while he does have some symptoms of pdd-nos they just dont think this is what is going on with him. While he has extreme roblems with social interaction with kids he loves adults and he loves to be cuddled and get hugs and kisses. They told me they dont usally see kids that social with th adults who are doing the testing so they wont give him this label.

I was also told that he most likely has some brain damage and his peditrition said that it most likely that he will have learning disablitys when he gets to school age.

He is starting in the special needs school though the school system this year and will be going 4 days a week for 2.5 hours a day. He will get 90 min of speech a week and 30 min. of ot a week. they will also work on his cognitive, social , self help and behavioal issues when he is there.
If anyone can give me any info I would be very thankful

thanks in advance

Also if he does have this I know it is pass down by me but my older son who is 6 was not late in any milestones he had ear infections as a baby but had none after the age of 3. He is having a little trouble learning how to read but that is really our only concern with him. Is it possible for one son to have fragile x and not the other?

Amanda Mom to Tayler 2-21-04 and Brayden 8-7-07 my boy with lots of medical issues but always happy
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Old 08-29-2010, 11:40 PM
 
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I am sorry you and your family are going through all this. My DD and DS were both tested for Fragile X. My DD was because she is diagnosed as Autism, my DS becuase he has speech and gross motor delays, low muscle tone and a big head. They were both negative. DS may end up with a cerebral palsey diagnosis.
I think it is possible for one son and not another to have Fragile X from the research I did.
I hope you get the results soon. It sounds like your DS is getting lots of services and that is great !!! Keep up the good work!

Oh, yeah, DD went to special ed preschool like your DS will be attending and it ws the best thing in the world for her! Good luck

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Old 08-30-2010, 04:14 AM
 
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Yes, it is possible for one son to have fragile X and not another. My DP's younger brother has fragile X and he does not.

I know very little about it, as I don't know his brother very well. (His family doesn't live near here, and also his brother is... hard to relate to and get to know) I really only studied it enough to find out whether it was a risk for our kids to have it (if a man is a carrier he will pass carriership to his daughters who could pass the full (symptomatic) mutation or carriership to their children, and nothing of it to his sons. If he isn't a carrier no problem. So it isn't something we need to deal with too much other than finding out if he's a carrier so our daughter's know their options when they decide to have children.)

Caroline, partner to J, post partum doula, kitchen manager, aspiring midwife, soon to be nursing student, mama to my furbaby, someday a mama to not so furry munchkins, G-d willing
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Old 08-31-2010, 11:42 PM
 
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My 21 month old son was just diagnosed with Fragile X early this summer. First off: Big hugs to you! This is a hard, hard time; all the waiting and wondering. Take it easy on yourself.

Your question about one son having it and not the other? The answer is, yes it is possible to have one affected son and one unaffected son from the same parents providing you are not affected on both of you X chromosomes. You only pass along one to each son and you may have given your first child your unaffected X and your second child your pre-mutation X.

To know for sure, if and when you get a positive diagnosis on your DS, you may want to have yourself tested. Ask for a referral to a genetic counselor to help you through that.

If Fragile X is your DS's diagnosis, speech and OT with sensory integration are the 2 most important services for him to receive; so you sound like you are already in the right place with the school he will be attending.

Please keep us posted
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Old 09-01-2010, 05:57 PM - Thread Starter
 
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Thank you so much for all the replys, My son was just tested last sat. so we still have a while to wait. I am already working with a genetic counsler with my son so if he does have this would I be able to work with the same geneist if I want to have myself test?? Also was wondering if you could tell me I was told alot of kids with this are tall with biger heads so I was wondering what qualifys as big. Mys son turned 3 on aug. 7 he is 39.25 inches tall and he weighs 33lbs his head is 51inches or 20 centemiters. I know he is in the 95% for height but I cant seem to find a percentile for his head so I am not sure if he has a bigger head or not

Thanks for the reply

Amanda Mom to Tayler 2-21-04 and Brayden 8-7-07 my boy with lots of medical issues but always happy
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Old 09-02-2010, 12:42 AM
 
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The physical characteristics are more of a long-face & large-eared look. Go to www.fragilex.org and look over the Fragile X Foundation's site. It has really good, really grounded information.

If your son gets a positive diagnosis, you can have his pediatrician or geneticist write you a prescription to be tested
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