found research group for changes in chromosome 18

Suzanne - posted on 05/26/2011

Hi, my 3 year old son has tetrasomy 18p and I'm part of the Chromosome 18 group on Facebook and part of the Registry. Good to meet you both!

Jennifer - posted on 05/25/2011

all 3 of my older children have been in EI my 2 1/2 yr odl is getting ready to age out we are in the process of getting him enrolled in a special needs school he got one of a few spots ina highly sought after program used mainly for autistic kids and those with communication delays i am very excited he got one of the available slots its not easy to get into we do know that unfortunately my husban has the same changes as them so in thier case it is inherited every child we have ahs a 50/50 chance of having it since he has it we just have the ability to draw the same straw eery time it seems lol i do have to say i feel my kids are extra special and love thenm no matter what life may throw at us thanks for the email address i do have a ton of questions and not sure how to go about getting some referrals to other specialist since our drs want to drag their feet about some of them thanks i am very glad i finally really get to chat with some other people that can at least sort of relate even though it may not be teh same exact diagnosis i am sure there will be some similartites since it is at least the same chromosome i appreciate any help anyone can give me at this point

Laura - posted on 05/25/2011

I'm glad you wrote. I can't tell you enough that it is an amazing group. You are not alone, as rare as chromosome 18 disorders are, there are a lot more people out there who have it than you'd expect. I don't know what kind of insurance you have for your children, but regardless, but every state has an early intervention program that every child is entitled to receive services from regardless of income. Here it is through Easter Seals. Look into it, they come to your house, give your child evaluations for speech, physical therapy and occupational therapy and then depending on results come to your home to help your child until they are 3 years old. Katelyn gets it all and they are a wonderful help. That's just a place to start. I don't know about the life insurance, but I do know that just because someone has a genetic condition doesn''t mean it's inherited. Most cases are considered "de novo" or completely random. meaning neither parent has the same gene deletions. Another great group to join is the Chromosome 18 group on Facebook. We write back and forth every day. I've got to run, Katelyn's crying, write me anytime direct if you want at laurap100805@aim.com Good luck. Again, glad you found us!

Jennifer - posted on 05/25/2011

oh by the way i don't think i mentioned i have a husband with this and 3 sons and also my daughter the kids are ages son 8 yrs daughter age 6 yrs sons ages 2 1/2 and son 9 mos

Jennifer - posted on 05/25/2011

i have only had this diagnosis for a couple years i only just got a computer up and running a while ago here at my home so i can now do more research i just found this group and i am going to join probably tomorrow i was just looking over a bunch of info on it i really want to join the research group with UT but i was warned by my sister who has a special needs child to be careful as sometimes they can deny you life insurance if its genetic related i so far have not found any thing about that with the info they sent me so i think i will go ahead with it what my 4 kids and my husband have is extreemly rare my oldest son was the first known to be diagnosed with it not sure what the actual name for it is but the interpritation part of the report says dicentric 18 resulting from inverted duplication of short arm including part of the centromere the dr told me it was partial trisomy partial monosomy of 18 with inverted duplication and deletion factor i think the deletion by what i understand is on the q arm and they are missing at least 15 genes and have around 28 duplicated only one they know anything about is the gene TGIF 1 which has been deleted the actual cytogenetic results for my oldest son is 46,xy,dic dup(18)(p10->p11.32::p11.32->qtr) he is also the only one who has had microray testing done the genetics dr says its pointless to test the others cause they will most likely be all teh same and since its so rare there won't be any research on it and probably won't be cause they have bigger fish to fry and aren't going to be worried about 5 people when they are still trying to figure out things like autism and cancer up till now i have felt alone on my mission to get answeres and our drs havn't really bothered to do any research either so its been slow getting there but i feel like finally i am getting somewhere my sons microray results are arr 18p11.32p11.31(131,491-4,121,166)x1,18p11.31p11.21(4,138,577-14,107,537)x3 FISH was ish der(18)(p11.32)dup(18)(p11.31)(RP11-70501-,RP11-297J10+,D18Z1++) nuc ish 18p11.31(RP11-297J1OX3) not sure how muh sense it makes but those are our results i have a million questions not even sure where to start mainly i am frustrated with drs in general i have been hunting and pokin trying to figure out what is going on with my kids for so many years now then get a diagnosis then told not to bother trying to do research cause i won't find any and i'll just have to wait and see what happens as they get older then trying to figure out how to help them i am too determined i want sansweres i will die to get them if need be don't want to discover somewhere down the road that i could have prevented something after its too late anyway i am glad you guys are here its lonely not knowing who knows how to help thanks a ton i will go there now and join i guess i just needed confirmation they were a good place to register with thanks :)

Laura - posted on 05/24/2011

By the way, I just looked at the link you provided and the UT Health and Science Center in San Antonio is affiliated with the Registry I mentioned. They are the ones who are doing the actual research. Do yourself a huge favor and join the registry, you'll be so happy you did. We are a really tight knit group of parents. They also have big conferences each year in a different city that a lot of parents attend. This year's is in Indianapolis, I believe in a few weeks and next year's is in San Antonio. I live in Austin, TX so I will definitely be attending that one. I would love to talk with you sometime. Feel free to email me anytime, Hugs......Laura

Laura - posted on 05/24/2011

Our daughter Katelyn was born with 18P Syndrome. You didn't mention what condition your son has. Is this a new diagnosis for you or have you know about it for a long time. I have done an enormous amount of research on chromosome 18 and would be happy to talk with you or answer any questions I might be able to. Have you found the Chromosome 18 Registry and Research Society online. It is a wonderful organization whose sole purpose is to study and do research on chromosome 18 abnormalities. They also have a parent listserv that you can join so you can write and communicate with other parents all over the world whose kids have 18P, 18Q, Tetrasomy 18 or Ring 18. They are a wealth of information and support. They also have an active research study that you can become a part of if you want to help. The website is www.chromosome18.org. They also have a facebook group. I can't tell you enough what an amazing group of parents these people are. Some of them whose kids are older are really able to help those of s with younger children navigate and be prepared for what may be in store for our kids. I hope this helps. If you would like to email me directly, my email address is laurap100805@aim.com.

Suzanne - posted on 05/24/2011

Hi Jennifer. Are you a member of the Chromosome 18 Registry and Research Society. www.chromosome18.org
I have a son with a rare chromosome 18 disorder. There is also a chromosome 18 group on facebook...let me know if you have any questions.