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!!

Friday, February 24, 2012

Happy 4 months

Judah is four months old today and we are three days shy of 'officially' being one month post-op. Judah's appointment yesterday went fine, Dr. Grant said everything looks great.
He said it will take about 3 months before it is completely healed...we should be able to tell when all of his lip feels the same, right now it feels kind stiff where it was sewn together. We got the go ahead to start massaging his scar to try and help it relax a little more, but it could take up to year and a half before it completely lays down where it should (You can see in the picture above how the scar tissue has started to pull his lip up). Right now the scar tissue feels very tough and hard... hopefully massage will help break some of that up.
Overall, I feel like the recovery from his lip surgery went much better than I expected. Even though we had some difficulties in the beginning, it has not been bad at all. I figured Judah would be screaming non-stop or just miserable...he really surprised me by continuing to be good natured, as always, and it is just amazing how quickly he healed. Micah and I spent so much time worrying before the surgery about what Judah would look like after, and I can say now that it has turned out much better than I ever imagined.
We also set the date for his palate surgery yesterday...We go for his pre-op appointment on August 23rd and his surgery will be the next day on the 24th. He will stay a minimum of two nights, he will go home once he is able to eat enough to satisfy the doctors. Dr. Grant said the recovery from palate surgery is a little more prickly than the lip, and understandably so.
Dr. Grant has a book that he showed us when we saw him for the first time of before and after photos of surgeries he has done. I printed out pictures of Judah for him to put in the book and gave them to Dr. Grant at our appointment. He was so tickled and said they were 'delightful'. I am so impressed by the job he did and I thought he should be able to show that to parents of children about to go through surgery...hopefully it will comfort them knowing how capable a surgeon he is!
I am excited that we don't have to deal with much 'extra' stuff for the next six months and just get to go back to normal for a while. We are celebrating Judah's birthday by getting his 4 month shots today...what a birthday! ;]

Monday, February 6, 2012

Looking within

I had a friend ask me earlier if Judah would need more surgeries, that it didn't look like he would since his lip and nose have been repaired. I'm sure there are several others that don't understand what all is going on with his clefts and I would like to try and explain here.

First, Judah had a cleft lip which was repaired on January 27th. This surgery repaired his lip and he also basically had a nose job to rebuild the nostril that was flattened by the cleft. He may need a lip or nose revision down the line, when he is much older, based on need; then again, he may never need any more 'plastic' surgery to the outside of his face.

Judah still has a complete bilateral cleft of the hard and soft palate...basically, he has a very large gap in the roof of his mouth that runs from front to back. (Judah's cleft is much wider than this diagram depicts, but it is the clearest example I could find.)
When we go for his post-op appointment on the 23rd of February they will go ahead and set the date for his palate repair. It will most likely be in August or sometime around then...our surgeon generally does the palate repair when the child is 10 months old. To repair a cleft palate,the doctor will make an incision on both sides of the separation, moving tissue from each side of the cleft to the center of the roof of the mouth. This rebuilds the palate, joining muscle together and providing enough length in the palate so he can eat and learn to speak properly.
Sometimes the palate doesn't end up long enough so they require a lengthening surgery to improve speech. Also, the palate may not fuse completely after surgery and leave behind a hole called a fistula which would also need to be repaired later. There are a lot of ifs in that equation, but the only surgery he will definitely have is the palate repair.

He also has a complete cleft in the alveolar ridge. This is the part that holds your teeth. You can see his is all the way over in the right side of his mouth. Now that his lip is repaired the muscles will slowly cause it to migrate left to where it should be. Eventually, it should come all the way over to where it touches the other side, or at least comes close, and he will have a bone graft to fuse the two parts together when he is about 8 years old.

Since he has such a wide cleft he will probably have really wonky teeth. Once his baby teeth start to fall out we will be in touch with orthodontics to make sure there is sufficient bone for adult teeth to attach to. He may have teeth where they aren't supposed to be, like the roof of his mouth, that will have to be surgically removed later. He will also need speech therapy throughout childhood.

In summation, even though Judah now looks 'normal' on the outside, we still have a really long road ahead. There are a lot of variables that can occur for him to require more, but right now we only anticipate two more surgeries. If I have learned anything from his lip repair it's that nothing goes as planned, so I try to do my homework and learn about all the possibilities so I am not surprised. I am glad we have a few months now that we don't have to worry about much, but I am pretty nervous that we'll soon have a date to be dreading for such a long time. Hopefully his next surgery goes more smoothly than the last and there aren't any complications. If you guys have any questions, PLEASE let me know!! A lot of this is kind of hard to understand but I definitely don't mind explaining it.