Reply
user banned 4 kids; Mueang Phuket, Thailand 30487 posts
Jun 8th '12
Quoting I Love Dem Baybees!:" I read on your page about how she has deletions of chromosome pair 7. DH and I got a diagnosis for our ... [snip!] ... like ya'll are getting off to a great start with lowering them to what was it, 10-15 rather than 100's! Good luck again, lady."


They are thinking the deletion and seizures are related, but i was also told, it could be unrelated.

did you or your husband get genetic testing done to see if either of you have the deletion???? i was told that by the "size of her deletion" it looks like either me or her father are a carrier of it. as for the fragile X, i was told she is in "gray area" she has like 46 extra repeats and the cut off is 45 or something like that, so her children or grand children or GREAT grandchildren could possibly have the fagile X because as you have babies the the repeats grow with each child.. something like that.



W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" they really changed. its in her records, she can look back at her old EEGs she had as a baby.. and ... [snip!] ... we will see.. chris and i are getting a genetic test done to see if either of us ahve the gene deletion either. "

They told us that if either of us have it there's a 50/50 chance each of our children could have it. They said it's most likely that it just occured when the egg implanted and the chromosomes were being copied, a tiny piece didn't get copied. They said it is usually what happens, but there is a chance one of us could have it and just not have the same delays or even notice it at all. We haven't been tested yet, our 14 month old is doing well and has hit all milestones except for walking so far. We might still get tested, I am expecting and due in October but at least we know what to look for in case our next child might have the same deletion.

user banned 4 kids; Mueang Phuket, Thailand 30487 posts
Jun 8th '12
Quoting .Colleen.:" Thats great, I hope you continue to get more answers. Sounds like she will need to be monitored periodically if they can change like that."


i guess its pretty unsual she said for thme to just change like that..


I HATE THIS>. i just want a deffinite answer. She is going back in 3 weeks and they will callme next week when they schedule her MRI.

but because they did swithc from one part of the brain to the WHOLE brain, it can rule out tumors and brain abnormalities and stuff.

W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" They are thinking the deletion and seizures are related, but i was also told, it could be unrelated. ... [snip!] ... possibly have the fagile X because as you have babies the the repeats grow with each child.. something like that. "

I just replied saying we haven't been tested. I am not familiar with the repeats and how that works, or what it means lol. Sorry you don't have to go into it if it's complicated, I was able to understand everything they told me about our daughter's microdeletion and have remembered it all since lol just because it's important stuff and I want her therapists to understand...they had never heard of it. With all of that said, lol, I might understand whatever you try to explain. We've been lucky and haven't noticed any behavoir that would seem like a seizure to us. My mom had them as a child when she would get upset or stressed but they went away as a child....they thought it was neurological but who knows if they knew near as much about genes and all then.

W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" i guess its pretty unsual she said for thme to just change like that.. I HATE THIS>. i just ... [snip!] ... they did swithc from one part of the brain to the WHOLE brain, it can rule out tumors and brain abnormalities and stuff."

That's good, praying it's nothing more than what you know now.

user banned 4 kids; Mueang Phuket, Thailand 30487 posts
Jun 8th '12
Quoting I Love Dem Baybees!:" They told us that if either of us have it there's a 50/50 chance each of our children could have it. ... [snip!] ... I am expecting and due in October but at least we know what to look for in case our next child might have the same deletion."


neither of my other kids seem to have anything worng, i know ELias is still a baby but at this point emmalynn was already seizing and stuff and delayed.

we are pretty much done having kids, unless we have 1 more years from now. but if we are carriers, i may not chance it. I feel like i got lucky with my other kiddos.



W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" neither of my other kids seem to have anything worng, i know ELias is still a baby but at this point ... [snip!] ... we have 1 more years from now. but if we are carriers, i may not chance it. I feel like i got lucky with my other kiddos. "

It could be that you got lucky, but if one of ya'll have it would be a 50/50 chance if it is only one of the chromosomes in pair 7 that has deletions. If it's both then they would have deletions as well seeing as they receive one or the other from that pair from you and their father. I'm sure you know all of this already, and since we only have one child besides my oldest it could be that we got lucky too. I'm hoping this child is fine as well, it's hard on a child to be delayed, not communicate or get around physically like others even when they don't know any better. I know it has to be so hard on your little girl with all she has going on on top of being delayed, it is a terrible thing :( . I'm so thankful for the therapy she receives and the medicaid to cover it all...we would be way worse off without it.

W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" neither of my other kids seem to have anything worng, i know ELias is still a baby but at this point ... [snip!] ... we have 1 more years from now. but if we are carriers, i may not chance it. I feel like i got lucky with my other kiddos. "

Yeah Annabella showed signs early too, she sat up at a good age I believe but she cried and cried with tummy time and wouldn't get in position to crawl, she wouldn't put her feet down to stand and once we put her legs down for her to stand she would lock her knees back to support her and then collapse. She didn't coo or make sounds, she laughed though. Her speech is delayed most I believe, but she wears little braces around her feet up to her ankles to help her walk on her feet right, they would lean inward if that makes sense. Therapy helped/helps her a lot.



She crawled at 18 months I believe, and walked at 23 months. Thank god she started walking within a month after her sister was born lol my back was breaking I swear.

user banned 4 kids; Mueang Phuket, Thailand 30487 posts
Jun 8th '12
Quoting I Love Dem Baybees!:" Yeah Annabella showed signs early too, she sat up at a good age I believe but she cried and cried with ... [snip!] ... walked at 23 months. Thank god she started walking within a month after her sister was born lol my back was breaking I swear. "


gosh, its nice knowing other people go through waht i do, even though i dont wish it upon my worst enemy. Emmalynn has been in therapy since she was 1 year old. it has helped alot, her speech is really detlayed now and thats about it, but its been years to get her to where she is today.

my 2 year old and 4.5 year old have the same vocabulary..

Momlette of 3 Due December 25 (girl); 3 kids; Ohio 25661 posts
Jun 8th '12

You have my prayers hon and I really hope you start getting answers that help make a change! <3

W.W. Due June 2; 3 kids; Arkansas 8009 posts
Jun 8th '12
Quoting ☮ Phuket:" gosh, its nice knowing other people go through waht i do, even though i dont wish it upon my worst ... [snip!] ... about it, but its been years to get her to where she is today. my 2 year old and 4.5 year old have the same vocabulary.."

I know what you mean though, Annabella has been going since she turned 1 also, and it has helped a lot especially to get her walking and learning. Her speech varies, the therapist said it can range to a 22 month level but honestly the only words I have ever heard her say, and the first few are regular use, are ; momma, dada, baba (drink), nae nae (my mom), and papaw ( my dad). The rest are words she has said once, maybe twice ; hi, yeah, no, baby (she has said it a few times). Her 14 month old sister says momma rarely, dada all of the time and tries to say "this" or "that" lol. Bella can't use a cup on her own yet, she can with a straw most times but will take it out and sling it everywhere, she still has trouble climbing stairs sometimes, but mostly walking down steps. She can't kick a ball or catch/throw one...all of that kind of stuff. I feel like she is going to be a baby forever :( I know it will get better but it's hard and I wish she wasn't missing out on so much.

mama3trish 3 kids; Ontario 9524 posts
Jun 9th '12

Congrats on making some headway-I cannott imagine how stressful life has been for you and her. Good luck and all my good vibes are yours.