Genetics Today...

We went back to Texas Children’s today this time visiting Genetics with Reece. I expected it to be a quick visit, but I was wrong. I must have talked to a billion (okay like 10) different doctors/nurses/medical personnel. So here is a quick run down of what I know, don’t know, and everything between.

-Genetics doctor- wanted my history and mine and Ryan’s family history
-Genetics specialist- examined Reece…in addition to the hypospadius, webbed toes, mini hole in the heart, small size she said he also has a slightly turned up nose, droopy/slanted eyes, wide forehead/nasal bridge, small chin. In her mid sentence of “all possible sighs of…” I interrupted and said “ Smith Lemli Optitz Syndrome and she smiled and said yes but 9 out of 10 times with genetics a verbal prediction is often the wrong diagnosis. She absolutely loved him and was impressed by his muscular strength for his size. She said that it’s a great sign that he is so active and alert. She made the calls as to what kind of testing needs to be done and they are as follows…1. chromosome testing (blood work which was done today) 2. Blood test (which was done today and if positive a DNA test will be done) 3. Ultrasound of the kidneys (requires additional appointment- wants to do this because of the hypospadius kidney failure/problems is associated with it and the Opitz syndrome) 3. Spinal ultrasound (requires addition appointment- wants to do this to check the spot on his spinal cord to make sure that the nerve endings are all closed. Waiting to hear back if he is big enough for this, if not he will have to be sedated and a MRI will be done) 4. Check brain (this will be done when the spinal ultrasound/MRI is done) 5. Oral Plastic Surgeon- hopefully this will speed up the referral process that I am already waiting on.
-Genetic counselor- gave us lab paperwork, discussed lab procedures and sent us to the 3rd floor for testing
-Lab work- they drew blood which required 3 nurses and 5 different picks because they couldn’t get the vein. Poor baby was screaming bloody murder for about 30 minutes. It was terrible. Needless to say since he has been back to sleep and is doing just fine. They took 4 of the little things of bloods. He hated it and even made ugly pouty faces to the lab workers.

So what does all of this mean? Nothing, right now because we do not have any answers, just possibilities. One of three possibilities will happen…
1. blood work comes back normal meaning that there aren’t any missing, extra or abnormal chromosomes- best case scenario!
2. blood work comes back abnormal meaning there are missing, extra, or abnormal chromosomes that doctors are knowledgeable about- second best case scenario because that means that they are familiar with the condition, aware of possibilities and treatments.
3. blood work comes back abnormal with missing, extra or abnormal chromosomes, but are conditions that doctors know little or nothing about- worst case scenario because then it is just a matter of hit and miss. If it comes back with this being the problem then they will test both Ryan and I to see if by chance one of us is a carrier of whatever it is and see if it is possible to be a carrier but not be effected (which could be the case with Jason…Ryan or I could be a carrier for a syndrome but J didn’t get the DNA makeup and Reece did) These are all REALLY BIG IF’s!

So now we wait on test results, make appointments for ultrasounds, and go to other appointments. Overall Reece is doing really great in terms of his spitting up. He is much happier than he use to be and is slowly coming around with his motor skills. Hopefully my prayer is we just need to give him more time and he will catch up! It will take 3 to 4 weeks to get test results back. If it is all normal we do a follow up in 6 months if it is abnormal they will schedule us as soon as they can get us in and we will begin treatment if there is any and regular follow ups for disability. Yes, I know that “d” word sounds scary and may I just remind you doctors always prepare you for what might come worst case scenario…Only the “big man upstairs” as Dr. Rowe once put it can control outcomes.

I have too say that so far I am a pretty big fan of Texas Children’s. The doctors for the most part have been very proactive. I mean really I think we have just about hit every major branch in that hospital and praise God with all of our visits we still haven’t come across anything that isn’t correctable or has life altering affects! I am telling you God does work miracles and in the end of all of this Reece will be living proof. I think I am going to end this posting on that note and that my highlight of the day was I got a medical 2010 planner for doctor visits today free! Heck yes :P
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