Follow up

So, Dr McGrath called Friday with Alvin's amino acid panel results. They have a diagnosis, but they arent willing to tell me what it is just yet. Dr McGrath wants to consult with a nephrologist first. Yeah, so. Ok. He is supposed to call later this week to explain things. Let's hope he does. Or I'll get Dr Gross on his butt again.

I just wish we could get the diagnosis so we can switch the kids and I to Tricare Prime Remote and I could get Alvin a pediatrician here. Next week though. Regardless of whether Yale has gotten off their asses.

Some answers

Yes, you read that right. We finally have -some- answers. Genetic testing results finally (after 6 months) came back. Alvin does indeed have neurofibromatosis Type I. The gene sequencing they did was positive for it. So, we know 100% for sure on that one. The rest of the tests came back negative. Well, all the gene sequencing tests did. His amnio acid test came back abnormal. Apparently he is failing to excrete certain amnio acids, most of which deal with his ability to dissolve fats. Which explains his inability to gain weight and his bowel issues. We took him in on Wednesday to have a quantitive amnio acid panel done. We should know sometime around Christmas exactly which amnio acid is doing what. We can go on from there with figuring out a treatment/diet. Woo for answers!

I'm a bad blogger

Ok, so I totally forgot to put the results of his checkup on HERE. I put them on the main blog. *bad blogger, bad*

On September, 1, I took Alvin, to the NACC for his 18 month checkup. He weighed in at 21 pounds, 4 ounces, and was 30 inches long. He gained a pound in the last 2 months! Woo! He is still below the 5%ile in both height and weight, but is still in the 50%ile for head circumfrence. (I say he looks like a bobblehead. Eric doesnt like that so much.) He got 3 shots that day, and has 3 more to get next week. (He just got his 12 month shots. We have him on a delayed vaccine schedule.)

The doctor he is seeing now at the NACC, wants us to come back the end of this month to see if he has been able to get any results from the genetic microarrays. So, yeah. I get to call for that appointment this week sometime. If those results are negative, we are just going to back off for 6 months. Let Alvin get a little older, and see what happens.

Biopsy results

Well, I finally got the phone call we have been waiting for. The doctor here at the NBHC was able to get ahold of Yale and get the results on Alvin's biopsy. I am happy to say that the test came back....



Negative! He doesnt have Hirschbrung's Disease. Now, just need the genetic results back so that we can go from there.

Alvin has a checkup on September 1, so I am hoping that we have the genetic results back by then. That way we can go from there.

Waiting

Yes, waiting. The genetic testing was done two months ago; the biopsy was done a month ago. We still dont have results. I have called Yale repeatedly. Leaving messages with both humans and machines. I have never been called back. Yesterday, I involved the NBHC (Naval Branch Health Clinic). Hopefully, the Lt I talked to will be able to get further than I did. He said that he should know something within 24-72 hours. So, we wait yet again.

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.

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.