18Q Deletion

First, what a wonderful thing you are doing for your sister. From experience I know there are a lot of things to deal with at this time in her life, having to research a rare disorder is not one of the things you want to have to do...so good for you for supporting her and helping her find some answers.

Second, I use to run a non-profit that researched information for new parents with special needs children. Two of my most favorite sites/organizations who provide both information and support are CDO and Unique. CDO (Chromosome Disorder Outreach) is at http://www.chromodisorder.org/CDO/Resources/Library.aspx this address will take you directly to their library section where you can go to the 18q deletion section and find numerous articles and information. There is also a chromosome learning section on the site which will help you/her understand the basics of genetics and chromosome abnormalities.
Unique is based out of England but they have local/regional contacts all over the US (I happen to be the NW Regional contact). Their website is www.rarechromo.org and they are a great resource for support and information. I have always found that they are good for letting me know I am not alone...which is so important.

Please keep in mind, no matter what you read on ANY chromosome disorder...every child is different and so are the symptoms and development that go with them. Try to stay positive (which can be hard to do when reading all the negatives about chromosome disorders). These kids are resiliant and strong no matter what their ailment. My son is a 1p36 Duplication baby...he was never expected to survive...he is 7 now and thriving...fairly typical even...and almost nothing like the other 1p36 Dup children on record.

Feel free to drop me a note if you want...as I mentioned, I had a nonprofit that actually did just this, found information, support, and resources for parents just like your sister...I am happy to help if I can. Many Many warm thoughts to you and your families!

I have no personal experience w/ 18q-, but I figure, hey...what's the point of taking classes in research and statistics and case management and socialwork if I can't use them in my daily life?

So...first off...hit up the social workers @ Children's hospital. They should be able to point you in the direction of some support groups and good information...or at the very least give you the number to call for the dept that has taken on that aspect of patient care. And YES, that info and those groups are for families as well as parents of patients. Have at.

Second...I'm sure you're scouring the internet right now. Here are the 3 best websites I've found.

http://www.geocities.com/zoeyl_au/Joshua.html

http://www.ulf.org/types/18q.html
United leukodystrophy foundation

http://www.chromosome18.org/Conditions/18q/tabid/127/Defa...

Here is some very technical information on all published primary research on 18q deletion syndrome. It's kind of dense, but might be of help:
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601808

If she is thinking about another child it could be helpful for her to see a genetic counselor. There may be something in her or her partners chromosomes that would make it likely for her to have another affected child. Or it could be a completely random occurrence. Either way, it might be helpful to know so if there are future children she could understand her options.

I agree you will be a great source of support, comfort and strength for her.

let me first say, bless you for being such a caring, sweet, sister. she is lucky to have you. i dont have any knowledge of this disorder, but i did type it in yahoo search and found what seems to have a great bit of information broken down into question/answer. the site is........
http://www.ulf.org/types/18q.html
your sister of course is always welcome to come join us here when she has some time, if not for information, more for support. let her know she has many mommies here that are thinking and praying for her and sending bunches of cyber-hugs to her and your family.
D.

This is all I could find. http://children.webmd.com/chromosome-18q--syndrome

This does not mean the baby is any less precious - I know you never implied so but I am just saying. I know these things are hard to find out and that working through them is filled with pain and joys. My son has no physical abnormalities but he is autistic and it has made for a sometimes hellish four years. But he is so precious and I adore him. I know he may never be able to live on his own or even complete school. He may miss out on things I want him to experience...but he does and has the most wonderful moments. Every accomplishment is hundred times more rewarding. When he said his first sentence last year (his first words were just six months prior to that shortly after his third birthday) I knew that I could do this.

Your sister will really need you right now more than anything. Don't tell her it will be ok because that feels patronizing, but don't overwhelm her with information either. Just hold her, let her be angry, and help her accept. This is a huge process. Just support her. She needs a support group. And that baby needs all the love it can get. Most of all do not let her say this is her fault. When my son was diagnosed I racked my brain for what I did wrong. No one knows why - and they probably won't. I wish you the best and send my prayers.

With all due regard, yes, my 5 y/o son, Eduard has been diagnosed with 18q deletion. Let me say that your care and concern for your sister and her baby makes you a champion. Please continue to support her, 18q research is being conducted in San Antonio Texas at the University of Texas Health Science Center, under the direction of Dr. Cody. The sister foundation is the "18q Registry." They hold benefits throughout the year, and their website offers a wealth of information. 18q syndrome from what we have found out, varies in severity according to the amount of the chromosome that is missing, the shape of the chromosome and if there are other deletions or trisomes (third or fourht sections) of other chromosomes. Children may have common anomalies, like midline defects, hearing or visual impairment to accompany the developmental delay. Please look me up on facebook

I actually have never heard of a 18q deletion. My oldest son was born via c-section almost nine years ago with 22q deletion. I am not sure if they are similar. You or your sister can feel free to contact me at: ____@____.com