Chromosome 16...

[daniellelucille]

Hmm... Jocelyn has been a very high needs baby... she wouldn't eat/gain weight for a while and we were hospitalized (well, she was, but I felt like it, as I never left her side). She is eating now, still gaining poorly... but gaining...

Genetics did some blood work while we were there, and they found out a part of her chromosome 16 is missing. 13 genes. They said it was totally un-cranio related, but I am curious as to what you guys think? They said she is at risk for autism and developmental delay (which she is slightly delayed now at 5 months)... but she is not diagnosed with anything at this time.

They are going to test hubby and I to see if either of us has this part missing as well, and if so, it will be a huge weight uplifted...

I really don't know what I am asking. I guess any/all input, or questions that would be good to ask the geneticist would be much appreciated! I'm wilting as I am getting a million things thrown at me at once... Ugh. Thank you.

[cheryl2]

Hi. I don't know anything about missing genes on chromosome 16. I can't give you any specifics. But I do know that the thing to remember about genetics is that your DNA doesn't "doom" you to anything down the road. Our environment plays such a big role in what our genes eventually produce. If she isn't already, my advice is to get her into your state's early intervention program. All states have one for babies birth-3 at little or no cost. They will send someone to evaluate her, and then send therapists based on where she is behind. Just make sure she's getting plenty of social interaction and opportunities to learn. Good luck :-)

[Tawnia]

Hmm sorry have never heard of that! I am so sorry you are dealing with even more stress.

[Amy K]

I haven't heard of this, but I found this for you: http://www.malattiemetaboliche.it/articoli/chromosome_16_disorders.htm

Also I think there are somthing like 150 or more syndromes associated with cranio.

Hang in there. Sometimes genetic testing only gives us more stress.

[daniellelucille]

I mentioned it to the CFS at our pre-op appt yesterday, and he just shrugged like no big deal and said, "It could just be nothing. Don't worry about it." He seemed so sincere to it being no big deal too. HUGE relief! We are still going to get tested to see if either of us are missing the same genes cause they are doing that for free as a follow up to the original test, but after that we are ceasing further testing. There's no point. There would be no fix, and we will love her no matter what. Only this way we will love her with a little more money in our pockets. Now LATER in life if it seems very significant we may test... who knows. We'll cross that bridge later!

[hope4C&K]

I just wanted to say hi. My son has a chromosome 9 deletion and mild metopic cranio with trigonocephaly. If you haven't already, check out the chromosome disorder outreach for information and support. They have been a big help for me. http://www.chromodisorder.org. There is also Unique http://rarechromo.org. Hang in there I know how stressful all of this is.
Kristen