Wednesday, February 29, 2012

Results from the Array

Back in January when we saw the geneticists they ordered a CGH array, which is a blood test used to map out chromosomes to look for abnormalities. I was really caught off guard because we had already seen some doctors up in Atlanta and they did not mention anything about further testing. I asked the doctors in Birmingham if they saw any 'red flags' or anything abnormal that made them want to do this test...they said no, that it was more or less standard procedure because when you have clefting it can be part of a larger syndrome.
(I just realized I never posted about this!!) A couple of weeks later I got a letter summing up our visit and the genetics note said: "Judah, a 2 month old caucasian boy, has cleft lip and palate with minor dysmorphic features (bracycephaly, hypertelorism, narrow palpebral fissures, flat nasal root and low set ears) and failed hearing screening test. An array CGH was sent to screen for chromosomal abnormalities and we will contact his mother after the test result is back." Naturally, I freaked the hell out, because those things would be the 'red flags' I was asking about, and instead of mentioning these things to me in person, I get a letter that scares me so bad that I can't even look at Judah without sobbing because of the prospect of him having to go through more than he already has going on. In order, the terms listed mean flat head, eyes too far apart, the space between the upper and lower eyelid is too narrow, bridge of the nose is flat, and you can pretty much figure out the last one ;]. They have standards of measurement that they use and apparently Judah's is abnormal. So of course, as I'm googling these terms, they are bringing up things like Down's syndrome and other really scary things, and I'm freaking out even more. I talked to a few cleft moms, and in summation they said all of those things just mean a wide, flat face and they probably used overzealous terminology to justify the test for insurance purposes...SO, I tried to not think about it anymore.
Today I received a call with the results....he does not have any chromosomal deletions, or missing pieces, but he has an extra piece on both his X and Y chromosome. They do not know the significance of this (if there is any), and this is not related to nor did it cause his cleft. She said it may be that I, or Micah, or both of us have an extra piece and passed it down to him...we could have a blood test done to see, but honestly, we are both fine and if either of us have the extra pieces then they are obviously inconsequential. She said that as long as Judah is meeting his milestones and developing normally physically and mentally then there is probably nothing to worry about...and I think that if something were wrong then we would have been tipped off already...I was joking earlier that he is going to be superman and my best friend said maybe he'll be part of the X-Men ;]...anyway, all in all, it is GREAT news, because he does not have any other syndrome. I'll take it!!

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