Back to the drawing board, sort of

Today was the much-awaited appointment with Dr. Cohen at Akron Children's. I had been looking forward while simultaneously dreading this appointment. See, I had been told by several people that Dr. Cohen has a horrid bedside manner. However, if he does, I didn't see it. The appointment started like most appointments with a new doctor do: going over Alvin's medical history. The more we talked about, the more the doctor's eye lit up. Apparently, most of what's going on with Alvin has NOTHING to do with NF.

So what does it have to do with? Well, that's the million dollar question right there. It could be several things. It could be something called neurofibromatosis-noonan phenotype. That's when a person has characteristics of both NF and Noonan's. However, doc said there were too many things going on to just be NFNS, but he wasn't ruling it out just yet. Part of Alvin's issues could be from a tethered spine. Might be mitochondrial. Might be an not-discovered-as-of-yet gene mutation/deletion. Could be neurofibromatosis type I microdeletion syndrome. Could be a lot of things.

Which means, a lot of tests in the future. Today blood was drawn for the standard CBC, chem panel, lead, and something else. Urine was collected for an amino acid panel. A lumbar MRI was ordered to check for tumors on the spine and for tethered spine. Once those are over and we get the results, we'll go from there. He doesn't want to test for mito right now, as it's a highly invasive painful test.

The one thing the doc said he really really wants to have happen in the next year is to have Alvin's entire genome profiled. That's a $5k test NOT covered by insurance. Eep! Doc is going to apply for some grants, etc, but some, if not all, of that costs will have to come from us. He really and truly thinks that there's something hinky going on with Alvin and that's our best bet to figuring it out. So, that's going to be interesting.  I'm kind of hoping that we figure it out prior, but I'm more than willing to try to get the funds to get the genome sequencing done. 'Cause really, once that's done, we'll know exactly what's going on in each and every part of his DNA.

So to recap, MRI in a few weeks. Blood/Urine tests done today. Results on both will be in by mid-September. If those are negative, we go from there.

Also, he's sending Alvin to be examined by a neuro-psychologist. No clue when that's going to happen. Still waiting on them to call me back to schedule an appointment.

Speech Evaluation

Today was Alvin's speech evaluation for private speech services. It was long and brutal. Well, to me anyway. He seemed like he was having fun the whole time. About halfway through the eval, the SLP (speech language pathologist) brought the OT (occupational therapist) in to observe the eval. After doing some minor evals of her own, and some talking between the two of them, they feel confident that Alvin has Global Dyspraxia aka Developmental Dyspraxia. In other words, it's not just his speech that is being misinturpreted, but everything. They said that the dyspraxia would cause the low tone, drooling, motor control issues, and some of the sensory issues, if not all of them. So, yeah. Next stop is to see the neurodevelopmental pediatrician. How much of this is NF, and how much isn't, we don't know. Wonderful. Ugh. I'll get a full write up of the evaluations in the mail sometime in the next few days, so look for those once I get them. Anyway, some pics from today. They are pretty boring though, so you can skip them if you want.

 Spontaneous speech evaluation. The SLP was sitting behind that two way mirror and listening to him babble to himself while playing.

The articulation evaluation. She'd say something and he was supposed to repeat it back. Supposed to being the operative phrase.

Audiology appointment

Since school let out yesterday and Alvin wouldn't be receiving speech through it during the summer, his pediatrician referred him to a speech clinic. Part of the process to be seen by the SLP (speech language pathologist) is to have an in-depth hearing test done. Well, we did that on Wednesday.

Here he is doing the one test with the audiologist. When he heard the 'bird', he was to put a peg on the board. She was showing him how to do it at this point.

We are proud to say that HE HAS NORMAL HEARING! Woo hoo. One thing that works like it's suppose to. He has his follow up appointment with the SLP on Wednesday to talk about where to go from here. He'll most likely have very intensive speech therapy to work on the apraxia more than the school could do. Look for the post on that next week!

Alvin's ETR Results

http://alvin-rice.blogspot.com/2011/11/alvins-etr-results.html

Boston Children's Visit

So, we went yesterday, and it went ok. Alvin is now 35 inches tall and a whopping 27 pounds! woo hoo! Yay for growing. If you want the rest of the ramblin on the visit, please check out Alvin's blog at The Banded Boy

Trepedation

I cant believe that it's December 14th already. Tommorrow we head to Boston Children's Hospital to visit the NF clinic in the Genetics Department. Ya'll I am apprehensive and excited all at the same time. I dont know what to expect from this doctors visit. I'm scared that after all this lead up, I'll be let down. That we'll walk out of there without answers. All the doctors we've seen thus far have either been A) off their rocker or B) didnt know a thing about neurofibromatosis. Granted, we still dont know 100% for sure that is what Alvin has, but all signs point in the direction. Hopefully, we'll have more definitive answers tommorrow. At least I hope anyway. I'm sick of the roller coaster of not having definitive answers. I'm sick of the "We think...". These people are specialists in NF, surely they will know what the hell is going on. I'll be posting tomorrow all about the visit, once we get home, on Alvin's blog. I'll link up here so that you can click over from here. Those of you who are friends on FB should get real time updates. Please keep us in your thoughts tomorrow.

9 month checkup

Well, today was Alvin's 9 month check up. Wonderful.

He is 26 1/2 inches long (<5th %ile) and weighs 16 pounds, 9 ounces.(<5th %ile). His head circumference is 17 1/2 inches.(25th %ile).

So, what does this mean? Well, he is a little guy, with a big head. But, it also means that he is severely underweight. So, we have 3 weeks to put weight on him, or he gets a feeding tube and diagnostic tests to see what is wrong with him.

Also, he was referred out to 2 different developmental specialists because of his delay in development. Bleah.

I dont even want to think about all this right now.

Alvin's latest checkup

Ok, so we are freshly back from the NACC and I am armed with plethora of information. This was his 6 month checkup. (yes, I know he is only 2 days shy of being 7 months, but at least he made it in while he was still 6 months). So, what did I learn?

Alvin is now a whopping 15 pounds, 7 ounces. He has finally doubled his birth weight. Still almost a month behind on that, but at least we hit it. Percentile-wise? Yeah, he doesnt even touch the growth chart. No surprise there.

He is also an impressive 25 1/2 inches in length. So all in all he has grown 6 1/2 inches since birth. Woo hoo. Again, percentile-wise, we dont hit the growth charts.

His head is 17 inches in circumfrence. What that means, or what percentile? I dont know. They dont generally talk to us much about what his head is doing. They send all that info to the craniofacial specialist and they talk to us. Or, at least, are supposed to talk to us.

Anyway, I talked to Lynn today. (The wonderful nurse at the NACC who is working on getting Alvin's band). Apparently, no one has done anything cause his referral and records were 'misplaced' during the great doctor shuffle. So after explaining the plagiocephaly and brachycephaly that Alvin has to the NEW doctor. I was finally able to have a solid discussion with the doctor, the nurse and the head dude at the NACC. Lynn is going to be 'on the ball' in getting his band through. She is hoping that we can have it in time for Christmas. Oh what a wonderful gift that would be.

EDITED TO ADD: Apparently I totally flaked earlier, but the demon grew fangs. That is right. Alvin's front two bottom teeth came in today. Yay, now when he bites, its gonna hurt.

Now, it is time for me to go. I have more cleaning to do until Emali comes home, then its time to go remove my husband from the evil clutches of his demanding other wife, Virginia. And trust me, she doesnt share well.