Friday, December 16, 2011

Please help give Alvin a voice!

Ok, I know that people hate e-begging. I do too. I've thought about this for the last week. So, trust me when I say, this is the hardest post I've ever had to write.

Long time followers of our blog (or Alvin's) know that Alvin has medical issues. However, you may be someone who's just happened to fall upon this blog. So, let me give you some backstory. (Those of you familiar can just skip down to the big red letters saying HERE if you want.)

Alvin was born on February 5, 2008 at 36 weeks gestation. He was an induced early birth due to my having pemphigoid gestationis. He was a healthy 7lb, 2 oz little boy aside from slight jaundice. At 9 days old, he moved with his family to Groton, CT where his Daddy was stationed in the US Navy. At 2 weeks old, it was mentioned to the pediatrician that Alvin had severe constipation. (Little did we know that -this- would be the first symptom that something was genetically wrong with him.)

Months passed. Gastric reflux, chronic constipation, poor growth all seemed to be the norm for our little man. Then, in May 2008, the pediatrician noticed that Alvin's head was unusally flat. So, that led to a craniofacial appointment in July 2008 at Yale Children's hospital in New Haven, CT. Unfortunately, TriCare denied the cranial band and offers of help through the health clinic fell through as well.  It wasn't until Oct. 2008 that we finally had good news on that front.  November 2008 is when he was officially banded.

December 2008 is when words like cystic fibrosis, hyperthyroidism, pyloric stenosis, and Hirshbrung's Disease started entering our vocabulary. You see, Alvin hadn't been growing properly and was severely developementally delayed. Dec. 4th was our first overnight trip for bowel prolapse. (It wouldn't be our last.) December 30, 2008, Alvin was provisionally diagnosed with Cystic Fibrosis. (This turned out to be incorrect, but we didn't know for a long time).

2009 started out rather normal. A flury of doctor's visits. A move to a new house. We had the formal sweat test for CF done. Those results came back negative. However, that meant we were back to square one. We had no clue what was causing all of Alvin's issues. February saw a second cranial band, as the first didn't do enough. March 2009.... Well, that's when Alvin had an endoscopy to figure out if he had Hirshbrung's Disease. (This was the new theory at the time).  The results of the endoscopy showed that he has some localized irritation and that Prevacid would fix it. That was the GI's official opinion. It's because of this attitude that Alvin's Pediatrician agreed to set up a 'second opinion' visit to Hasbro Children's in Rhode Island. This visit took place in May 2009. The results from that visit were that he didn't have celiac disease or anything like that, so they weren't sure why he was having such extreme constipation and why he wasn't growing. The subsequent follow up at Yale is the first time Alvin's cafe-au-lait spots were brought into question. (We'd later find out the doctor was thinking NF) June was a blur, however Alvin did finally take his first steps then!

July 7, 2009: Our appointment with the Yale genetcist. (If I could, I'd throttle the man). We left with more questions than answers. Especially since he said that Alvin most likely had NF, but that NF didn't cause his issues. (What a moron.) The GI team said that day that they thought Alvin just needed a good cleaning out and to be fed. (This was the start of a long journey in the CPS system that ultimately turned out baseless.) However, the GI wanted to do a rectal biopsy to physically see if Alvin had Hirshbrung's Disease. This was done in late July. The results were negative. We were still waiting on genetic tests to come back. We didn't get the results for a few months. However, all the tests came back negative for whatever they were testing for. (Fragile X, as well as several metabolic disorders were tested for). 

It wasn't 'til January 2010, that the geneticist called with the amino acid panels he ran to tell us that Alvin needed to see a nephrologist. He wouldn't tell us much other than he had an 'idea' of what was wrong with Alvin, but he wanted Alvin to see the nephrologist before he'd tell us what that idea was. (Again, another reason I'm so glad we moved from CT). March 2010 was when we transferred Alvin's care to Akron Children's. The neurologist there was the one who provisionally diagnosed Alvin with NF. She ordered an EEG for his staring spells, an MRI to check from gliomas, and an optometery appointment to look for lisch nodules. (I stopped posting blogs for a while due to a very rude person posting extremely rude things.) So, after the optometry appointment, we were happy to find that Alvin did not have lisch nodules. The nephrology appointment just confirmed something we already knew. Alvin has trouble digesting sugar, so excess sugar is secreted through his urine. It's a condition called renal glycosuria. (His father also has this condition.) In August 2010, we moved BACK to CT. So, nothing really happened medically until December 2010, when we went to the NF Clinic in Boston Children's. The geneticist there felt that Alvin met all the non-diagnostic criteria for NF, so she sent out for the DNA test to confirm.

Results for the NF test back in February 2011. Alvin DOES have neurofibromatosis type I. This explained the constipation, the absence seizures, the small stature, the failure to gain weight, etc. It also was a warning that Alvin could have learning disabilities and speech delays. Little did we know that Alvin would have severe speech delays. On November 28, 2011, Alvin was diagnosed with Childhood Apraxia of Speech(CAS). He has an expressive language age of a 16 month old child. He is 3 years, 10 months old.

So what is CAS? Childhood Apraxia of Speech is a motor speech disorder. For reasons not yet fully understood, children with apraxia of speech have great difficulty planning and producing the precise, highly refined and specific series of movements of the tongue, lips, jaw and palate that are necessary for intelligible speech. Apraxia of speech is sometimes called verbal apraxia, developmental apraxia of speech, or verbal dyspraxia. No matter what name is used, the most important concept is the root word "praxis." Praxis means planned movement. To some degree or another, a child with the diagnosis of apraxia of speech has difficulty programming and planning speech movements. Apraxia of speech is a specific speech disorder.

In Alvin's case, the apraxia is likely secondary to the NF, ie, the NF and the tumors is caused are the cause of the apraxia. However, this also means that Alvin has severe issues with communication. He cannot say his name. He cannot tell you how old he is. He has 'approximations' of words. Ie "Daddy" is said as 'ah-ee' by Alvin. Daddy also means about 30 different things. Everything from his actual Dad to his Dad's shirt. Alvin also gets very frustrated when he cannot communicate what he wants. Tantrums are a regular occurence.


So, why did I post all of this? It's simple. Alvin's speech pathologist has recommended that Alvin get an augmentive and assistive communication device, also called an AAC. The medical device is called a Dynovox. This is a dedicated AAC device. However, it also costs $7k. Why am I listing the price? Well.... Eric's insurance won't cover it. Period. Apraxia is a non-covered condition. So anything relating to it is denied. So, when that was discovered, the SP mentioned an iPad with several AAC applications. This would cost roughly $1k total once you factor in the iPad, the case, and the apps. However, Eric and I are unable to afford this in a timely manner. (We are on the waitlist for a grant, however the waiting time is currently 16+ months). This is where hopefully you will come in.

Please, help Alvin find his voice. The AAC will allow him to communicate his thoughts through an electronic portal. With the AAC programs via the iPad, Alvin will be able to tell people his wants, his thoughts, etc. So, please, help us? Donations can be made via credit card, debit card and PayPal by following this link : Give Alvin a Voice! (There is also a permlink in the right hand of the blog.) We hate asking, but we don't know what else to do.