Part 2

Part 2

Following all of our mis diagnosis we were given Cerebral Palsy as a diagnosis for services by our Atlanta Neurologist. It felt a little like lying, but they could not rule Cerebral Palsy out either (although I think he was like this inutero) and he needed a diagnosis to help with his services. He then was a little hesitant to when we said we were going to a developmental pediatrician. Either way he had a EMG – they stick little pin type needles (think acupuncture) all over him to determine whether his central nervous system was working. It was and he said whatever this is would not be something that would worsen over time and whatever physical issues he had he could use equipment. Anything more we would have to wait and see.

As therapy got underway, Ty was becoming physically better every day. He always was smiling, looking and looked like he was trying to tell us something. He would drool like crazy. I never was a bib mom, but now due to how much he drooled I made sure he always wore a bib.

Tyler still had some feeding issues that caused us to worry. He would not eat anything other than a bottle without choking or sounding like a rattle. We were discouraged to do anything other than cereal or rice to avoid aspirating. We had a lot of swallow studies and saw a gastrologist (he ordered more tests). He also was taking all down to go to the bathroom.

When we went in October to the developmental pediatrician she was so convinced he had a genetic issue. She ordered tests and then immediately referred us to the genetics at Emory. Certain genetic features – pectus excavatum, his fingers, his eyes, ears, slightly upturned nose and a starburst patterns in his eyes (stellate irrides).

Off we went to Genetics in December and they ordered more tests. Williams, Angelmans, Retts, a diff Prader Willi and specific genes to do a FISH. The outcome would be negative, negative and more tests ordered.

So finally in November during Thanksgiving– Tyler sits with tripod sitting –at first it was a second. But then minutes and we would put him there and work on him taking his hands away. Slowly but surely he would do it. December he would really start sitting with his little hands in front and he started tracking us with his head. He would lose his balance, but this got better. It was January when the hands would no longer be needed and he actually could sit for a few seconds. Soon we moved on to sitting and reaching and tummy crawl.

When February came we were given advice to do a muscle biopsy. We actually got a second opinion because how invasive would this be and given he was making progress was this necessary. Our insurance was denying and if we were to fight it we wanted to make sure it was a wise decision. I knew that Ty was making sooo much physical progress and had been poked for months. Shawn and I got our second opinion and the doctor agreed – was the biopsy going to change how we treated Tyler now. The answer was no. So, we let it go and decided to drop the mitochondrial testing for now. He was almost creeping and then crawling would come. Why put a setback for a invasive surgery?