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.

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.

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.