Thursday, January 29, 2009

Insurance Case Manager = Genius

Whoever told us to get a case manager to deal with our insurance companies was sheer genius. I have talked to numerous people from our insurance in the past six months and no one ever seemed very helpful. Well today I called and asked for a case manager - since we use so much insurance - and sure enough they assigned us a nurse and she was beyond helpful. I was really worried about the growth hormone and she made it sound very promising! I am excited and very thankful because it has been so frustrating calling back and forth trying to get things approved!!!

Wednesday, January 21, 2009

13 lbs!!!

So we had our 6 month appointment on Monday and I was so surprised to find out he weighed 13 lbs. It could just be the difference in scales, but when the nutritionist weighed him a week and a half before, he weighed only 11 lbs. 6 oz. We have been making the breast milk he gets more calorie dense by adding powdered formula. Apparently it is really working!!!

We have a diagnosis!!!

So much to our surprise, nearly 2 months after our visit with the geneticist, she calls to inform me that Isaac does have Prader Willi Syndrome. The methylation tests have shown that. It amazed us. We are still in shock. We truly thought we would go on without a diagnosis.

UP NEXT: A visit to a clinic in Columbus, OH to establish a treatment plan. Yay for growth hormone!!!

Saturday, January 10, 2009

Isaac's 1st Christmas

We are starting physical therapy soon!!!

Since he was 2 months old we have had an occupational therapist and a feeding specialist working with Isaac, but starting soon we will have a physical therapist and we are soooo excited!!!!

Plus last night we saw a nutritionist who is going to help us fatten up the boy to get him off of this g-tube!!! We have had some leaking issues with the g-tube and we are really hoping that her recommendations help.

Yay for early intervention, if all we had were doctors right now, we would be very very discouraged!!!

(continued from before)

December 16, 2008 - We had an appointment with a pediatric opthmalogist, Dr. Tarakji, who in a 10 second assessment found Isaac has CVI, Cortical Vision Impairment. That wasn't a pretty day. But hey, we figured that is the least of our worries.

December 29, 2008 - We had an MRI. The little man had to be put under, and they gave him this tiny little hospital gown with puppies on it that was just pitiful, but like all of the other procedures before, he came through like a trooper and was back to normal before long. Even better, two days later I got a phone call that the results were NORMAL!!! woohoo!!!

So now so far he has every test back that has been recommended, all normal. We are blessed in that respect. :) Now as to what is going on with his muscles, no one really seems to have a clue.

No more tests for awhile . . . hopefully

Since I'm new to this blogging I'm going to back track a little:

July 17, 2008 - Isaac was born at 39 w 5 days weighing a whopping 4 lbs 15 oz. We've had a muscle biopsy which showed nothing. Isaac was in the NICU for 3 and 1/2 weeks. He had a poor suck and could not feed on his own. We had numerous blood tests and genetic tests, all with no diagnosis or reasoning behind my son's lack of muscle tone. After the placement of a g-tube, we were allowed to take the little man home!!! Lots happened in between, but here is the gist. :)

November 22, 2008 - Isaac's pediatrician recommended we see a genetic counselor. So off we were to our appointment with Dr. Hummel from Morgantown, WV. She told us we should have the rest of the tests for Prader-Willi syndrome, and if that doesn't come back with anything, an MRI. We were kind of disappointed after that appointment because she gave us absolutely no new information (that we hadn't talked about with other doctors) and she gave us very little guidance on having more children.

But of course at least she didn't tell us anything really bad, so we have to be thankful for that.