We went to see Dr Stratton, the Geneticist again at the recommendation of our Pediatrician. He thought it might be wise since we now have the additional “symptom” of the submucous cleft palate. (There were genetic/chromosomal issues that we had eliminated based on the absence of the cleft palate.)
I really like Dr Stratton. I love the way he explains stuff to me in such great detail. He has an amazing way of mixing medical terms with simple terms to make everything seem so simple to understand. Plus, he draws good pictures. Today he reviewed all the previous diagnosis, Ryan’s history, and the prior tests that we have done. We discussed in great detail the results of January’s MRI. He was pleased to see the Radiologist who read Ryan's MRI was one that he feels a high level of confidence in his skill.
The MRI, in case you don't remember, came back inconclusive. However, the radiologist had noted that there were areas of over sulcination and polymicrogyria. Dr Stratton drew pictures and explained polymicrogyria (PMG). The PMG could certainly explain the vision issues, the developmental delays and the seizure disorder. However, it doesn’t really account for everything we are seeing with Ryan.
Dr Stratton is confident that there are lots of things we can rule out, especially since we had the Chromosomal Microarray test done and it came back negative. Additionally, he was glad to see that we had already received a negative test result for DiGeorge syndrome, which Ryan has some strong indicators of also.
Today Ryan weighed 15.2 pounds. He has lost 14 ounces since his last dr's appointment less than a month ago. Many of you have commented on how healthy and chubby he looks, but apparently looks really can be deceiving. I think there are 2 reasons why he doesn't seem little. One, he still behave like a young infant so it creates an illusion of him being bigger. (Does that make sense?) And, second, he seems to store all of his fat on his arms and legs, but very little on his core.
Of course, what really matters is his personal growth curve. Deborah has always been on the little side, but Ryan is falling farther away from the growth chart's bottom percentage, and his "curve" was becoming more of a straight line, but apparently is now starting to go downward.
Dr Stratton discussed the pros and cons of doing a g-tube into his little tummy. We'll be discussing that more on Thursday with his GI Specialist. I still have really mixed feelings about it. It didn't help when Dr Stratton, obviously not thinking, said, "Of course, it carries all the risks of any surgery. I've seen babies die on the Operating table during a minor surgery because an artery was in an unexpected place." Nice, right? It's a good thing I am already aware of this risk. Otherwise, Dr Stratton might have had a blubbering mom on his hands.
Anyway ... Ryan's head continues to be up in the 95+%, and is especially concerning considering the size of the rest of his little body. The big head and the hypotonia can possibly point to other diseases that we're just going to skip naming. Dr Stratton gave them to me with a strong warning not to go home and research them. Of course, I did come home and research them. I'll spare you the option.
After a very thorough examination and a long conversation, he ordered more blood work and an urinalysis: 3 Tests. It took 2 urine bags to get a good collection, and 1 hour to find his tiny little veins under the fatty pads of his arms and legs. They finally managed to get one collection from his right foot. They then tried a tiny vein by the thumb side of his wrist, which they never could hit even though they could supposedly see it. And, then they went back to another vein in the right foot. Unfortunately, they couldn't use his right arm, which seems to be the best place on him, because he had a bruise there from Monday morning's blood draw.
So the test results ... One should be back by tomorrow morning. If that one comes back positive, then Ryan will need to have a muscle biopsy, which means we may need to reschedule his upcoming surgery so that we can do it at the same time. The 2nd test result should be back in 1-2 weeks and the the 3rd test result will not be back for 4-6 weeks because it is a DNA test, which apparently is sent off to a very busy lab.
Please pray all these tests come back negative.
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