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.