Chromosome 11 Deletion
Posted: Sun Sep 16, 2007 7:09 am
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
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