Saturday, July 25, 2009

Alvin's biopsy



The golytley enema and subsequent rectal biopsies went as well as could be. Alvin had an issue with not wanting the NG tube in, but once we got past that, he was tolerant of the admission. He had a rough time with the cleanout, but you couldnt have asked for a better child. He came through the anesthesia and biopsy with flying colors. Now, we just wait for the biopsy results.

Alvin's biopsy



The golytley enema and subsequent rectal biopsies went as well as could be. Alvin had an issue with not wanting the NG tube in, but once we got past that, he was tolerant of the admission. He had a rough time with the cleanout, but you couldnt have asked for a better child. He came through the anesthesia and biopsy with flying colors. Now, we just wait for the biopsy results.

Wednesday, July 22, 2009

Karen's Baby Shower/Trip to Ohio

Yes, another picture blog. We just got in this afternoon, and we have to be down at Yale tomorrow at 9 am so that Alvin can be admitted. Enjoy the pictures.


The diaper cake I made for Karen.



Karen's cake.
Karen


Karen again. (I know it's dark)


All of Karen's baby loot.


Alvin


Karen and Eric


Alvin and Eric walking


Rubber Boy!


Thursday, July 16, 2009

And I am off!

I wont be around for probably a week. I am headed to Ohio and the only internet connection I will have is crappy dial-up. If you have me on Facebook, look for updates there, since I can access it through my phone.


Ciao!

Tuesday, July 7, 2009

Yale

Ok, so we went to Yale both yesterday and today to have some testing done, and a surgical consult done. Yesterday went well. Beyond well. Both Eric and I were elated at how congenial the Genetics team was.

The geneticist took a detailed history of Alvin, including his in-utero period.He decided to run several tests, including basic metabolic, amino acids, organic acids, creatine, and a genomic microarray. That microarray itself tests for around 120 genetic disorders. He also is testing for a condition called Fragil X Syndrome. So, all in all, the genetics team is totally on the ball.

The geneticist has a couple of ideas on what could be wrong, but, he would rather test for everything he can. Just to be safe. He did confirm that Alvin most likely has neurofibrmatosis, but until he hits puberty, we wont know for sure. The NF has nothing to do with his poor growth, constipation, and develop delay. So, while we have one answer, the main problems are still undiagnosed. But,we should have test results in the next couple of weeks.

Now, on to today. It was a wasted trip. The surgeon didnt tell us anything we didnt already know. They want to do a rectal biopsy. Duh, we knew that 2 weeks ago. Eric asked if Hirschbrung's was the only thing they were testing for. The surgeon's response "well, we dont think he has that, but we are going to test to be sure. If its not that, then he is just backed up and needs cleaned out". Um...that is your official opinion????? WTF? So, its either something you dont think he has, or he is backed up. Really? Those are the ONLY two things it could be??? Bull. I have had it with the GI team at Yale. Completely had it.

Right now, we are hoping the genetics team comes through with a diagnosis, that way we dont have to deal with the GI team anymore. I will be calling Hasbro tomorrow to talk to the GI there about everything that has been done so far and see what he has to say.

Edited to add: Alvin will be having the biopsy sometime in the next few weeks.

Yale

Ok, so we went to Yale both yesterday and today to have some testing done, and a surgical consult done. Yesterday went well. Beyond well. Both Eric and I were elated at how congenial the Genetics team was.

The geneticist took a detailed history of Alvin, including his in-utero period.He decided to run several tests, including basic metabolic, amino acids, organic acids, creatine, and a genomic microarray. That microarray itself tests for around 120 genetic disorders. He also is testing for a condition called Fragil X Syndrome. So, all in all, the genetics team is totally on the ball.

The geneticist has a couple of ideas on what could be wrong, but, he would rather test for everything he can. Just to be safe. He did confirm that Alvin most likely has neurofibrmatosis, but until he hits puberty, we wont know for sure. The NF has nothing to do with his poor growth, constipation, and develop delay. So, while we have one answer, the main problems are still undiagnosed. But,we should have test results in the next couple of weeks.

Now, on to today. It was a wasted trip. The surgeon didnt tell us anything we didnt already know. They want to do a rectal biopsy. Duh, we knew that 2 weeks ago. Eric asked if Hirschbrung's was the only thing they were testing for. The surgeon's response "well, we dont think he has that, but we are going to test to be sure. If its not that, then he is just backed up and needs cleaned out". Um...that is your official opinion????? WTF? So, its either something you dont think he has, or he is backed up. Really? Those are the ONLY two things it could be??? Bull. I have had it with the GI team at Yale. Completely had it.

Right now, we are hoping the genetics team comes through with a diagnosis, that way we dont have to deal with the GI team anymore. I will be calling Hasbro tomorrow to talk to the GI there about everything that has been done so far and see what he has to say.

Edited to add: Alvin will be having the biopsy sometime in the next few weeks.

Sunday, July 5, 2009

As promised (pic heavy)

Ok, so, I am finally going to catch this thing up. I have two weekends worth of pics to share. Warning now, this is a very pic heavy entry.
Saturday, June 27 Ken's birthday party at Kara's house
Sunday, June 28, 2009 Beardsley Zoo
Hammonasset Beach
Friday, July 3 Hammonasset Beach
Saturday, July 4, Subfest