Fragile X Syndrome Support Group
Fragile X Syndrome is the most common inherited cause of mental retardation, and is associated with autism. The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome. Mutation at that site is found in 1 out of about every 4000 males and 1 out of about every 6000 females.
Hi,
I am currently 15 weeks pregnant and found out at 13 weeks that I am carrier of the fragile x premutation with 159 repeats. I had no prior knowledge of this or knew of anyone in my family that did. I immediately got a CVS done and it was found that the baby, a girl, received the full mutation. We are so upset and really confused. I've been scouring the internet and the information on the effects on girls is so vague. We met with a genetic counselor that gave us some info but it is really not enough to go off of. I am really hoping for some more clarity on how this syndrome effects girls. I am so terrified I am going to make the wrong decision.
Thanks in advance for any input.
I am currently 15 weeks pregnant and found out at 13 weeks that I am carrier of the fragile x premutation with 159 repeats. I had no prior knowledge of this or knew of anyone in my family that did. I immediately got a CVS done and it was found that the baby, a girl, received the full mutation. We are so upset and really confused. I've been scouring the internet and the information on the effects on girls is so vague. We met with a genetic counselor that gave us some info but it is really not enough to go off of. I am really hoping for some more clarity on how this syndrome effects girls. I am so terrified I am going to make the wrong decision.
Thanks in advance for any input.
deleted_user
hi i have fragile x i have the full mutation and i am a carrier my son has fragile x and autism. i got tested in 06 my son in 03 he also has autism. it is on my moms side of my family. my family is supportive.i have anxiety and depression as well as i struggle with that everyday. go on the national fragile x website they have alot of information on fragile x and a support group to join online good luck Linda
petallamb
When my son was born, I soon realized something was amiss. It took years before I knew the diagnosis. Though my son is a full mutation, he is a very capable fellow and even scored in the 99 percentile for comprehension, which is far higher than his peers. I have a lot of great parenting suggestions should you run into problems. I also have 2 years of University Psychology and years of experience working at preschool with special needs children. I am a full mutation Fragile X and apart from some quirks and dyslexia in Grade one, no one would guess. My mother was a pre-mutation and you would never have known. If you raise your daughter with reasonable high expectations, she will surprise you and accomplish far more. Keep stimuli low in her infancy (not passing her around for everyone to hold in a noisy environment. Stay calm, love her and breastfeed as this is so beneficial to intelligence. I am 55 now and have adopted 2 special needs children since birth. I would be thrilled to pass on to you some of the wisdom these years have given me. FYI I was top of my classes in University. It helped me that my Dad had a high IQ and my mum was well educated though lacking common sense. Your daughter could be like me. If not for a nightmare childhood-not related to Fragile X whatsoever, I would never have even felt the difference of being a full mutation Fragile X. Your daughter is a blessing to you as my son has been to me. He is now 31 and lives with me by choice. He was able to operate a CAT dozer at a landfill my husband ran, better than many professionals I have seen, and he was 12 at the time! You and your baby girl are in my prayers. hugs and don't worry. The toddler years are slower and milestones may lag but you will be amazed at her, if you raise her as though she can do almost anything. My son cannot read well as he has trouble with ordinal numbers, 1st, 2nd , 3rd etc., but could memorize books and could do puzzles better than most kids. My heart and prayers are with you.
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