Chromosome testing results - more questions than answers

[Lollybrat]

DS had a Chromosome Microarray done last month and we got the results this past week.

We were hoping the test would shed some light on either his ASD or his albinism, hopefully both. (One of the known ablinism genes is on chromosome 15 and neighbors a set of genes that have been implicated in autism, so there is a theoretical possible connection between the two conditions.)

The test found no resutls that are known to be connected to disorders. However, it did turn up a microdeletion on the long arm of chromosome 19. The clinical significance of this microdeletion is unknown. There are 4 or 5 known cases in the literature of kids with a deletion in the same area. However, these cases all had much larger deletions and the children are more severely impaired than my son. But the geneticist told us that only the "interesting cases" get into the literature, so they really don't know if there are other kids like DS out there.

DH and I both had blood drawn to see if either of us have the microdeletion or is DS is a new case. The hospital is doing our tests free of charge and we should have the results in a couple of weeks.

What else should we do? Is there any way we find out if other families have kids with the same microdeletion?

I'm completely shocked. I really expected that the test would not find a chromosomal problem. I thought that maybe it would find an issue that is known is be involved in autism, like those on chromosome 15 or 16. I never considered that they might find something of unknown significance.

[2boyzmama]

www.chromodisorder.org
www.rarechromo.org

Some parents find each other through chat rooms like this. Start a blog, even if you don't make it personal at all, but put key words on it like albinism, autism, and chromosome 19 microdeletion. Other parents are going to do just what you're doing, hitting up google, hoping and praying to find they're not alone.

[AndVeeGeeMakes3]

Hi,

I'm sorry for what you're dealing with! We had a sort of similar thing happen recently. One site that's pretty interesting, out of the UK -- our geneticist actually used it as a reference when he was researching our, heretofore unknown, issue (extra genetic material on the long arm of the 14th chromosome) -- is Unique. Our geneticist said that it's one of the best public databases for chromosomal anomalies. Also, he said that Baylor, where her tests were sent, often contacts people much later as scientists request information on particular genes.

I agree with 2Boyz, too, that it's helpful to just get the info out there and searchable because, as our geneticist explained, even five years ago they couldn't have found VeeGee's anamoly, so hers being unique may simply mean that they haven't found anyone else just yet. Of course, it doesn't mean that there's anymore information -- we're (you, us) kind of building that information base for those that come after. I figure that, even though knowing doesn't make the day to day reality any different, it does give us, sort of, somewhere to land for the "why." Does that make sense?

Peace.

[Lollybrat]

Thank you for the replies.

Those websites are very interesting. I'm going to register DS's microdeletion, but I want to wait until DH and I get the results of our tests which should be in about another week.

I like the idea of a blog. I don't know much about blogging, so I'll have to look into how it works and if we will be able to maintain a level of privacy that DH and I can be comfortable with.

We've also sent copies of DS's results to every doctor we are are friends with or related to in hopes that they might have some insight. A coworker suggested writing to the authors of the study that described the other kids with deletions in the same area, even though they present very differently than DS. So I'm going to do that as well.

Thanks again.