Appointment With Genetecist

I'm going to start at the end of this story because that's what the picture is all about. We were getting ready to leave the genetecist's office today by picking up the toys that some of the children had played with. Jason climbed right in to help! (Now that he is walking, he is going anywhere he can manage, climbing, exploring etc.) I just had to snap this picture of him sitting in the duplo tub. I wanted to get the process, but he was too fast.

Okay, now the beginning: We balked about going to the genetecist because Jason has seemed so normal. The problem with that is reality. His cleft, VSD (though resolved) and small stature are real. We finally convinced ourselves that three abnormalities should send us to the genetecist, just in case. Her preliminary opinion, based on the external physical exam, family history, and Jason's development is that he does not have a genetic problem. Another possible cause of the cleft (which was new info to me) and the small stature is thyroid dysfunction (which I have wondered about a lot) He doesn't fit that profile perfectly either though. Usually kids with thyroid related growth deficiency are short and chubby. Jason is small vertically and horizontally. She said that did make her think we might have a nutritional problem. At that point, I find myself defensive. Jason has been a big eater and is now even using sign language to ask for food. I always feed him until he stops and conscientiously put together a balanced diet for him. He's not picky. He is still eating two full bottles a day of rice milk/goat's milk because together they have a higher fat content than soy formula. He drinks well out of a cup and can ask for that too. (And does.) The pediatrician has also said that he doesn't think he is malnourished because he's so proportionate and healthy.

The conclusion of the appointment was the ordering of chromosome and thyroid studies. If those are normal then her suggestion would be to see a GI doctor about malabsorption, which profile, she said, he doesn't exactly fit either. (In other words, he doesn't suffer from chronic diarrhea.) After the process of approving the studies with the insurance company, getting the labs, and waiting for results we should know something in August.

I might add a note about Jason's size. So many people are surprised when I tell them that Jason is small. If you've known me most of my parenting years, you will know that I'm pretty relaxed about stuff like that. If Jason was just on the small end of the curve I wouldn't be allowing concern. However, he is far below the curve. I think people balk at the idea that he is small because he looks so proportianate. He doesn't look scrawny. Today Jason's height was normal for a six month old, and his weight for a 4 1/2 month old. He is 12 months and 1 week old. The good news is that his head size and development are normal. In fact, his development has even been somewhat advanced. He surprised the doctor today with all his gross motor skills=) We have no other children who have been even close to this small. The smallest before Jason had other issues that, once resolved, also resolved stature.

John and I are thinking that if the thyroid and chromosome studies are normal we will be pushing to sit on things for a year or so and see what happens. But, we will need to be prayerful about that. Of course, we want the very best for Jason. At this point, it seems to us that he needs an abundance of time to be normal and avoid unnecessary and traumatic medical attention. You can pray for us too. We do want to make wise short and long term choices for Jason.