I have a three year old daughter that as 18q deletion. She has global delays and isn't talking yet. Anyone else dealing with this?
Andreeclaire - posted on 02/02/2012
I have joined Unique (rarechromo.org), after finding out that my daughter has a 12q microdeletion. They can help put you in touch with other families in their database with the same deletion, or just other families in your area with another chromosome disorder. My daughter is 3 too, not talking, and not even signing. We've started using PECS with her, at a very basic level, and she's doing very well with that.
Jennifer - posted on 01/10/2012
my 4 kids all have a rare chromosome 18 disorder they have partial trisomy 18 with inverted duplication and deletion factors they have 15 deleted genes and 28 duplicated my 4 are so far teh only ones known to exist with this oh and their dad makes 5 my oldest is severly hearing impaired and uses hearing aids in both ears he is 9 he also has femoral antiversion meaning his hips are rotating in he is very small for his age in teh 3rd percentile has facial tics has midface deformities wich will require braces to fix his teeth among other things will eventually require a mri of his brain to make sure his brain is fully seperated into 2 halves and has a heart murmer drs have no idea what is related to the chromosome disorder and what is not my daughter is very tall she is 7 has sensory issues as do all 4 of the kids possibly is autistic waiting on testing has bowel issues my 9 yr old has constipation daughter is diahreah she also has the midface deformities we are still trying to evaluate all her problems the 3 yr old is autistic and has adhd very limited vocabulary but has been cleared for now from hearing issues has a rare vascular birthmark that needs to have an mri done when he is older has many many problems also has facial deformities all 4 have very narrow ear canals which is common with kids with chromosome 18 abnormalities he also has diahreah and possible celiac disease the baby is 17 mos seems to the most normal has midface abnormalities narrow ear anals but other wise so far is only about 1-2 months behind developementally the rest of the kids are way behind we do use sign language a lot in our house annother thing we find very helpful is a communication book esp with the 3 yr old since he knows what he wants but can't communicate it with us very well its a plastic 3 ring binder that we have laminated pages with velcro on it to wich we attach a laminated picture of everyday things they may want to tell you they want or need that they can't say and when they want it they pick it out of the book and give it to you you then in return reitterate what it is they want so for example they give you teh pic of a glass of milk you then say oh you want a drink of milk and give it to them later you can try to get them to request itworks very well with him to ease his frustration have you had their hearing evaluated it is very common to have hearing delays with abnormalities of chromosme 18 there is a place in texas forgot the name but they are doing research on all abnormalities of chromosome 18 and may also be able to give you ideas where else to find some research on it got any questions feel freee to ask i have done a lot af research on similar abnormalities to what my children have i would have too go look up the sites i have found and let you know i know wone is unique
Sarah - posted on 01/08/2012
My Daughter will be 3 in March, she has Down syndrome and CHD, she also has global delay. She doesn't verbalize much but she does sign about 120 signs. She is becoming more verbal as of late but still we depend on sign language to determine her needs. In her own time I am sure she will begin speaking just fine. We do speech therapy as well as OT and PT and Special Instruction.
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