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.

Appointments, appointments, appointments

Ok, so we have the genetics appointment scheduled for July 6th. On July 7th, we have to go to have an abdominal x-ray done, then meet with the surgeon to discuss the biopsy. From what we understand, the biopsy will either be performed on Thursday or Friday of that same week. So, that week will be busy, busy, busy. Please, keep Alvin in your prayers. He really needs them.

Getting somewhere

Well, we have a genetics appointment. July 6, we will be going down to Yale Genetics. We were very lucky to get that appointment. The geneticist only sees new patients once a month, and they were full until the end of September. Luckily, someone one cancelled and they are able to get us in in just two short weeks. So, here is to hoping that the command will allow Eric to have that day off.

Also, GI is going to perform a rectal biopsy on Alvin. Great, he is going to have to go an be put under and intubated again. Fun. Here is to hoping that can be scheduled while Eric is in port. It would suck to have to go through that without Eric being home.

But, we are on the road to finding out, once and for all, what is wrong with Alvin. It's only been a year, but whatever.

A small step in the right direction

Ok, so today was a follow-up at Yale. They did the standard questions and then asked what all we have been doing since the last appointment. So, I told them. We had been to Hasbro for a second opinion. Boy, that got the fire lit in Yale's pants. So, they asked all sorts of questions on what Hasbro thought, etc. Well, well. Looks like Yale might actually decided to be serious about this now and stop blaming me!

Anyway, they have taken a complete medical history of Alvin. It was then that the GI noticed the cafe-au-lait spots Alvin has. He asked how many Alvin had, which he has 16. So, that got the GI's eyes huge. Combine that with Alvin's abnormally large head and chronic constipation and well, we are off on a theory. What that theory is, they wont exactly say. But, they have scheduled Alvin for a barium enema with contrast next week, and have given us referrals to an endochronologist, a neurologist, and a geneticist. So, at last, we are on the track to figure this crap out. (No pun intended)

So, please pray for an actual answer sometime soon!

Blood test results

Well, the blood test results are in. Everything was normal. Some of the liver enzymes were high, but, they feel that that is just how his enzymes are. As they arent high enough to indicate disease.

So, now we continue on with the no-dairy/high fiber diet until the end of June. Then, we will go back to Hasbro to go from there. As for the diet, so far. No results. He is pooping about every 3 days, which I guess is an improvement over every 4. But, what comes out is wider than previously. So, its not a miracle cure.

Let the waiting begin.

Hasbro Children's Hospital

Warning: This post discusses bodily fluids/etc.








Well, we took Alvin to Hasbro Children's Hospital in Providence, RI today. He had an appointment to meet with GI there for a second opinion. (Since Yale has maintained that I am not feeding him and he would gain weight if I just fed him).

There we met his new GI, Dr. Alexander. Dr Alexander is a wonderful man. He sat down and listened to Alvin's entire history before saying anything. He asked alot of questions and gave us the decision on what was more important to us right now: the failure to gain weight or the constipation. Dr Alexander was glad to see that we chose to treat the constipation. He fully believes that the failure to gain weight it due to the length and severity of Alvin's constipation.

So, starting tomorrow, we start on a totally new therapy. We are going to completely flush Alvin's system via enemas. (3 given over 3 days). Then we are going to start him on a dairy-free diet. This is to rule out lactose intolerance as a cause of the constipation. Dr Alexander is also running like 35 different blood tests, including Celiac, and other diseases. The test results for those will be back in around 10-14 days. So, we are to follow the new non-dairy/high fiber diet until we get the blood test results back.

After that, where we go is dependant on the test results. If they find nothing, then we will stay on the new diet for 8 weeks to see if his constipation lessons and he gains weight. They will also do more testing if these blood tests come back normal. Dr Alexander told us today that they WILL find out what is wrong with Alvin. They are very concerned about his chronic constipation. So yay. Finally. Someone who can admit they dont know what is wrong, but are willing to find out.

April Photostudy

The picture on the left is when he started the cranial banding in November, and the picture on the right is his picture taken just a few days ago. Notice how much his head has rounded out.

Its been a while

I know. I am sorry. Things have been hectic around here. My main blog has some details on things going on with Alvin. So, look for updates over there for the past couple of months. However, I promise I will actually update THIS one from now on.

Here are his new helmet designs.