Geneticist

In a previous post, I mentioned that although all of the blood tests to see if there is a metabolic deficiency completed during Zoe's brief hospital stay in July have came back normal, her doctor wanted a Geneticist to see her in person just to make sure he doesn't notice anything out of sorts. Zoe's doctor would rather us find out if there is something we need to work with now, rather than in five years. He is still a little hung up on the fact that Zoe has a big head with tiny facial features and a tiny body.

On Tuesday I took Zoe to see the Geneticist. I first spoke with a Genetic Counselor about mine and Mike's family medical history. That took a while because she literally drew a family tree and wanted me to go as far back as I could. And we both have big families! The Geneticist then gave Zoe a full physical exam (the same kind she gets during her Primary Care checkups) and then took a bunch of measurements. He measured her height, weight, head circumference, arm span, hands, length of her fingers, eye width, ear placement, and feet.

The Geneticist said that Zoe looks very normal except that she is the size of a 2 month old and her arms are short in comparison to her height. So he suggested we do a Skeletal Dysplasia Survey. This is a series of x-rays of the head, chest, pubic bone, legs, arms, hands, feet, and spine that will allow the doctor to see if there is any abnormality showing up in her bones. Pretty much, it's to see if there is any sign of Dwarfism. So, I went ahead and had the x-ray done. Zoe hated it. She was SO tired (we had already been at the hospital for a couple hours).

The doctor said he isn't expecting to get abnormal results from the x-ray but he just wanted to do it so that we could know. If Zoe is a dwarf there isn't anything we can do about it except just be prepared and know how to manage it. Some reassuring things are that though Zoe is very small for her age she continues to grow at a constant rate. Also, her head is big but it's a different looking 'big' than the typical dwarf.

We'll get the results from the x-ray next week. Then the Geneticist wants to see Zoe again in about 5 weeks and then one more time after that before we move.

How do Mike and I feel about all this? We don't feel there is anything wrong with Zoe. We never did. Mike had a large head when he was a baby (and still does!) and both of us were small babies (in the 6 and low 7lb. ranges). It seems like everything that the doctors have any concern about can be accounted for by one of our family members (Mike's dad has one crease on his palm instead of two, etc.). Mike and I have never had a concern about Zoe's size, big head, or any of the other things. But when a doctor mentions that he's concerned then we kind of have to be concerned too. So we're going along with all the testing because we'd much rather they all come back negative then there be something wrong that we could have found out about and managed now.

No matter what happens we think Zoe is perfect just the way she is and we wouldn't change anything at all about her.

A few good things that came from the visit to the doctor:
1) Everybody thought Zoe was SO cute. Maybe they were just being nice. But they just couldn't get enough of her and everybody wanted to play and talk to her. Of course Zoe loved it and was hamming it up for everybody. She smiled, giggled, and baby talked to everybody.
2) The doctor was very impressed with how well Zoe can sit up. She sat up on my lap (I was not holding her with my hands) the entire time I talked with the Genetic Counselor). Then Zoe sat up all by herself on the exam table while the doctor did her physical--even while he was checking the reflexes on her knees.
3) The doctor made a comment that Zoe acts older than her age. (So if she looks younger but acts older those two things wash and she's perfect, right?)