MRI recheck

Alvin is a flipping rock star! We arrived at Akron Children's bright and early this morning.

We decided to attempt a non-sedated MRI, instead of the scheduled sedated one, today. Alvin did amazing! A few wiggles, but nothing too bad.

Prior to his MRI, he got to visit with Sophie, a therapy dog at ACH. Alvin loved every minute of it. Such a great program!

Then, after the MRI, it was over to the NeuroDevelopmental Science Center and the neurosurgeon’s office for the MRI results.

And...... minimal to no growth!!! Yay!! Recheck (MRI) again in March. Still don’t know what this is, but we’re going to watch it.

He did have some growth of some FASI (UBO) in his cerebellum but those are consistent with NF and aren’t overly concerning.

Fifth Grade Band Concert

Alvin had his first ever band concert tonight. He was so nervous in the weeks leading up to it, but he did great! While he chose percussion, they only learn notes and play the bells until later in the year.

Now we focus on Monday’s MRI and neurosurgical appointments. 

Happy Halloween!

Alvin chose to be Dark Voyager from Fortnite this year for Halloween. Complete with Rift Edge axe.

Pirate Day! Spirit Week at School

Today was Pirate Day at school, part of Spirit Week leading up to the Homecoming Game tomorrow.

Oops.

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.

Please help give Alvin a voice!

http://jenn-eric.blogspot.com/2011/12/please-help-give-alvin-voice.html Please read this. It's real, and heartfelt.

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'.

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.

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!

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!

Referral APPROVAL

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!

Yes, I know it's been a while.

Due to a very rude person, I stopped posting on here. She will one day get what is coming to her and I hope I'm there to laugh in her face.


Anyway, I just dont have it in me to catch up on everything that's been going on since the last post. I just want to hit on the major development. Alvin had an MRI of his brain and orbits. The results came back with a few gliomas (tumors) and hundreds of UBOs (unidentified bright objects) all over his brain. According to the neurologist, "His brain lit up like a Christmas tree." Because there was cerebelluar involvement, she is concerned. Normally they dont see these UBOs in the cerebellum. His entire speech development center is also involved. Both with the UBOs and with small gliomas. She has pretty much said we'll be lucky to get a few more words out of him, but he most likely is never going to talk. He may surprise us, but it's not looking hopeful.

They are going ahead with the 'idea' of it being neurofibromatosis, but he has to have a few more things in order to be clinically diagnosed with it at this early age. Ya'll, that's NOT a good thing. According to my NF mentor, being diagnosed under the age of puberty normally means they have a more severe case of NF.

Just as a background, the most common effects of NF1 are:
Visual impairment/blindness
Optic gliomas
Lisch nodules on the retina
*Seizures
Headaches
*Brain tumors
Blood vessel defects
Learning disabilities
Mental retardation
*Macrocephaly (oversize head)
*Speech imparments
High blood pressure
*Cafe au lait spots
Fibromas
Scoliosis
Early or delayed puberty
*Digestive tract issues: pain, vomiting, chronic constipation or diahrea
*Delay in learning to walk or talk
*Short stature
Severe itching
Cancer
Pseduoarthrosis (false joints)
Bone deformities of the legs

Those effects marked with an * denote issues Alvin currently has. So you see, we're dealing with something that could potentially have a severe impact on Alvin's life. No, he hasnt been clinically diagnosed with it. He's not old enough and we havent been to the optometrist to see about the lisch nodules. If Alvin does have lisch nodules, then he'll meet the clinical definition for a child under puberty. Problem being, the nodules dont normally show up until after the age of 4. So, the neuro is saying to treat him like he does have NF1, because of all the markers so far, and if need be, wait til he's older to get the clinical diagnosis.

Ya'll I'm scared. I'm upset. We go back on Monday to the neuro to talk more about these gliomas and UBO's and to talk more about how to help with Alvin's other issues.


PS, to the bitch: Cant fake MRI results bitch. Get a clue before you spout your mouth off.

AKCH Visit #2 the EEG

Let me just say that sleep depriving a 2 year SUCKS! After keeping him up til 11pm last night, I had to wake him up at 6am. Then, I had to deprive him of a nap. He wasnt allowed to sleep until he got into the EEG and they said it was ok. HoleyMoley! That sucked. Thanks so much to my Grandma who came with us and kept him awake on the 1.5 hour trip to the hospital. We'll know the results of the EEG on Monday.

Akron Children's Hospital Visit 1

So, today we had two seperate appointments at Akron Children's Hospital. We saw Cardiology and NeuroDevelopment. The appointment with the cardiologist went extremely well. Dr Jacbonstein was wonderful with Alvin. He had an EKG, and an echocardiogram done while we were in-office. We are happy to say that EVERYTHING IS FINE with Alvin's heart! After the cardiology appointment we went to lunch, then to Alvin's neurology appointment.

First off, let me just say that Dr Victorio is AWESOME! She listened to everything we had to say. She was very informative and patient with everything we asked or had concerns about. After measuring all of Alvin's various cafe-au-lait spots. She talked with us about NF1, and about the high possibility that Alvin has autism. (This isnt a shocking theory. Autism has been mentioned before.)

She wants to perform more tests before she is comfortable with confirming a diagnosis of NF1. So, we have an MRI scheduled for next week. In the MRI, they will be looking for gliomas and/or for genetic deformaties of the brain. Alvin will be sedated for the MRI, which is scheduled to take ~2 hours.

For his 'staring spells' she has ordered an EEG. That has been scheduled for next week as well. Going to be a rocking good time attempting to keep him awake during the hour+ drive to the hospital. Dr Victoria also has referred us to an audiologist, a speech pathologist and an optometrist. The optometrist is supposed to be looking for lisch nodules in Alvin's eyes. Again, another marker for NF1.

Also next week, we have an appointment with the nephrologist(kidney doctor). We are seeing him due to Alvin's low amino acid count in his urine. So, I will be quite busy over this next week. However, we should have an honest, definative diagnosis shortly!

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.

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.