Chromosome 11 Deletion

[Z-Pup]

Hello all

I have been scarce for the last month or so we have been soo busy, and still have a bday party to get through next weekend.

But anywhoo I just wanted to get you all up to date on my lil man.

The day before Zach had his palate surgery we had a meeting with Genetics. Well while he was under the next day they took blood so they could examine his DNA. He aslo asked us if we knew Zach had a heart murmur. Which we didn't, but the murmur is soo very small that if you weren't checking for just that thing you would of never knew it.

Well a few weeks ago we went in for the check up on his palate surgery, his ear tubes, and to meet with the Genetics doctor so she could tell us what came of the DNA probe.

There is a deletion in his Chromosome 11 in quadrant 13. Zach is the first (of those who have had their DNA looked at) to have this specific deletion.

There are 3 other ppl that have a deletion in Chromo 11 but not in the same exact spot that Zach does. Of these 3, one has/d a cleft lip/palate, another has a heart murmur, and I don't remember what the other one has/d.

Now with ANY chromo abnormalities (whether it be chromo 11 or 2 or 23, ect.) there is the increased worries of possible cancers, kidney problems, excessive iron in the blood, eye problems, and I'm sure a whole bunch of other stuff.

But as of right now....we have had his blood tested for the iron. This blood draw was done the same day as the check up, and he was AWAKE! LOL I sent DH! - His iron levels are fine.

We have had a U/S of his kidneys, last week, haven't heard back from the doc yet.

And we are scheduled for a Echo on his heart, and an eye appointment.

We had an appointment with Early Child Intervention (ECI) the 31st of August...he is well above average in his fine motor skills, and either right on track or above average in his language development. That was so nice to hear.

We are to meet with our cleft team speach path. in November and she will asses him then and then we will see what kind of speach therapy to start.

I can't wait until October, me and DH are going on Vacation!!! MIL is keeping Zach. We so need a break, it's been a LONG LONG year but I do see the light at the end of the tunnel. And to those of you just starting out on this journey, just take it one day at a time, that is all you can do, but do know it does get better. And please just enjoy your baby, b/c they won't stay that way long. Pretty soon you will have a lil dare devil on your hands. I swear he is not afraid of ANYTHING (well except loud noises but tubes will do that for you )

Here is his bday invitation, just cuz I think it's cute

[samjune79]

Wow, I am really going to push to have both Kyle and I tested. The hospital did do a DNA test but not sure if they were looking for that. I think they were looking for downs because the palm of his hand had a line that was perfectly straight or something like that. Anyways, I was born with UCLP and a heart murmur was found when I was 4 years old and I also have eye problems. No kidney problems but I do have stones in the left one found during my pregnancy. So far Kyle has not had any problems with his heart or eyes, but he also hasn't been tested. Are you thinking of getting tested too? Did they give you any info on if this would occur again in his children?

[Samm]

we had Avery tested, he has a duplication of Chromozone 14 actual Trisomy 14q 11.2 not much info to find, his ears are set a little lower than his eyes, his eyes are smaller. but he can see well. Chromozone 14 is well known for clefts. and bcus his cleft was more than what the untrasounds told us they started genetic testing the night he was born.

So yeah, i'm learning more and more about genetics these days.

Happy Birthday Zach, hes definately a cutie!