Saturday, March 10, 2012


Yes, I know I've been horrid about updating this blog. Many times I just update on the main blog. Sorry about that. So, what's been going on?

Alvin got his iPad thanks to a bunch of wonderful friends. Thanks guys! He's now had his iPad for 2 months, and is having a great time with it. Learning the AAC has been an experiece. We had bought Proloquo2Go, but he hated it. Thanks to a WONDERFUL friend, we were gifted SonoFlex and he's been using it. He's making slow progress, but it's progress nonetheless. He's also been using several different apps for other skills. Fine motor skills, hand/eye coordination, etc. We're up to almost 200 different apps, though not all are for Alvin. We've won some apps for the girls as well.

Speaking of which, I've started a blog for app reviews. It's located at The Banded Boy: Reviews. I dont what to clog up this blog with those reviews. But, if you're interested in looking for apps, check out that blog.

Alvin also went to the Pedi for his 4 year checkup. He's grown! He's 38.5inches tall, and he weighed 34 lbs. We also got referrals to neuro, opthamology, nephrology, genetics, speech, OT, PT, and ortho. The opthamology appointment went well. Alvin has reduced vision in his right eye, but it's not enough to be corrected just yet. The rest of the appointments we havent done yet, so I have nothing to report there.

Monday, November 28, 2011

Alvin's ETR results

UPDATE: He's also been diagnosed with childhood apraxia of speech. Basically, his brain cannot create the correct paths to turn thoughts in to words.

On November 14, we took Alvin to have an evaluation for the local special needs preschool. Today, we got the results of that evaluation.

In the Vineland Adaptive Behavior Scales, a standard score is a 97, though anything from 91-100 is considered 'average/normal'. Alvins scores are:

Communication:      74    Adaptive level: Moderately low
Daily Living Skills: 71    Adaptive level: Moderately low
Socialization:           63    Adaptive level: Low
Motor:                      65    Adaptive level: Low

Overall Composite: 65    Adaptive level: Low

So, as you can see, based on this alone, Alvin is severely behind what is considered 'normal' for his age group. Then, they evaluated his Pre-School Language skills.

Auditory Comprehension: he's equivalent to a 2 year, 8 month old child. So, he's exactly a year behind there. For Expressive Communication, he's the equivalent to a 1 year, 4 month old child. So, he's 2.5 years behind there. These two give him an overall equivalent to that of a 1 year, 11 month old child. So, Alvin is severely behind. He'll be starting his special needs pre-school tommorrow. So our hopes are high that with that, he will start to catch up to his peers, but we do realize that he'll likely never be 'average'.

Monday, February 28, 2011

His genetic results

As you can see in this picture of his genetic test results, Alvin has a c.2682delT mutation. This is what confirms the diagnosis of NF1.

Wednesday, February 9, 2011

Genetic Test Results

So..I just got off the phone with the geneticist at Boston Childrens. It's affirmative. Alvin DOES have Neurofibromatosis Type I. *big sigh of relief*

Ya'll it's been 2 1/2 years of ups and downs. We think this and we think that. Now we KNOW! There can be no supposition. (No more anonymous assholes being jackasses cause they're bored.) We still have to wait until Alvin hits puberty to find out how bad this NF is going to get, but now we know what to look out for. Now getting him the scans/test etc every year wont be a fight. Why? Because he has a medical condition that requires them.

So what happens now? Well, not much different than what has been really. Once the pedi here on base gets the paperwork from Boston, we'll enroll Alvin in the EFM program. I have no clue what catergory he's going to be labeled and no clue how the EFM program works, but I'll soon find out! I'll post the doctor's notes/more information once we get it in the mail. I just couldnt wait to let everyone know!

Thursday, December 16, 2010

Boston Children's NF clinic visit

So yesterday we went to the NF clinic inside the genetics department at Boston Children's Hospital. Not quite as informative as we thought it was going to be, but really, there wasnt much more they could tell us. They 'highly believe' that Alvin has NF1, but he doesnt meet diagnostic criteria (yet). No surprise there, most of the diagnostic criteria for NF dont show up until adolesence or older. So, because Tricare and Navy are on our butts for a FIRM diagnosis, the NF clinic is going to send out for the genetic test for NF. However, a negative on that test doesnt mean he doesnt have NF. In that case, we'd re-evaluate once he'd have a second diagnostic criteria. The doctor is pretty sure that the test is going to come back positive though. Regardless of the outcome, we are to treat Alvin as if he DOES have NF1. Basically, as far as they are concerned, he does. Like the neuro in Akron, the doctor here has said that Alvin meets all the non-diagnostic criteria of NF. He has a big head, small body. He is learning disabled. He has spots on his brain. He has more than 6 6mm cafe-au-lait spots. Unfortunately, only ONE of those is a diagnostic criteria. He is showing signs of having a second sign: speckling in the folds of the skin. In Akron months ago, he had none. Now he has a few. The doctor said that most NF kids develop the 'speckling' sometime between 3 and 6 years of age, so him starting to have some isnt surprising. If he develops MORE of the speckling, then they could diagnose him based on that and the amount of spots he has.

Basically, we wait. Wait on the gene testing to come back in 2 months. I'm sick of waiting. I really am, but this will hopefully give us a solid answer. Normally they dont go to gene testing this early in NF. They prefer to wait to see if a second sign shows up. Being in the Navy though, we need an answer. The Navy wants Alvin in the EFM program if he has NF.

Anyway, some good news. Alvin is officially 35 inches talls and weighs in at an astounding 27 lbs! Woo hoo!

Thursday, October 14, 2010


Yes, you read that right. Our referral to the NF clinic at Boston Children's Hospital was APPROVED! No appeals process. Nothing. We did have to go to a review, but once they got all the information from the doctor here and the doctor back in Ohio, they approved the referral. This is a big deal because Boston Children's is out of network.

We go on December 15 to the clinic. I cant wait. Finally someone who KNOWS what neurofibromatosis is and I dont have to explain to them. So, look for updates AFTER then!