Updates on Mommy and Unexpected Call From Dr. Boo

This morning I saw the neurosurgeon for a site check on my muscle biopsy. It is healing great and the scar is perfectly straight! He got the results of the light microscope results. They were normal. But Dr. Li expected them to be normal. The next round of testing on the biopsy is called electron microscope. This is a definition of the microscopes:
Electron Microscopes were developed due to the limitations of Light Microscopes which are limited by the physics of light to 500x or 1000x magnification and a resolution of 0.2 micrometers. In the early 1930's this theoretical limit had been reached and there was a scientific desire to see the fine details of the interior structures of organic cells (nucleus, mitochondria...etc.). This required 10,000x plus magnification which was just not possible using Light Microscopes.
So basically the next round under the microscope will scrutinze the muscle more. The basic genetic mitochondrial defects will be looked at. If those results are within normal limits then they will take it to the next level of testing and look at the Cytochrome C Oxidase Deficiency. They will look at this on my muscle because this was low on Robby's biopsy. So it is a possibility that this could be on mine. I will not know more for a few more weeks. This is frustrating but it has already been a month since the biopsy and at least the scar is healing well. I just wish I knew why the sides of my calves have this darn burning feeling in them. I see the Neurologist tomorrow for that issue.

Now onto Dr. Boo's call. Tonight after work, while I was waiting for an appointment, Dr. Boo, Robby's new neurologist called me! I was waiting for her to call I just didn't expect it to be tonight. She had spoken to both Dr. Naidu and Dr. Kelly at KKI today. My biggest request was for her to find out what exactly the specialist thoughts were on Robby and report back to me in layman's terms her findings.

Her report to me was the last thing I thought I would hear. "Cory, It is not believed anymore that Robby has a neurodegenerative disease or Mitochondrial disease." "It is also not believed to be metabolic."

WOW!!! While I am not shocked I also do not believe it 100% to be true that it is not metabolic or not mito.
But I also do know we are in excellant hands with Dr. Boo, Dr. Naidu and Dr. Kelly!

Dr. Boo asked me why I was so stuck on the mito/metabolic issues. While I really hope that it is not Mito, I am just not convinced. I told her "We have met so many people like us along this journey and most of them have been diagnosed with Mito or other metabolic diseases." These other children we have met have such similar traits to Robby. I just don't know if I can really let go of the metabolic part of this. She told me we will continue to monitor Robby closely and talk again in a few months regarding these feelings. I really feel like we need a second opinion. She did say that my biopsy may help us with Robby. I really hope I get some results too. She did feel like my issues were definently neurodegenerative/mito like. I wish she could tell my docs that. I swear they just don't get how painful my muscles are most days. Plus a semi-healthy mom should not live on zofran/muscle relaxers/pain killers and should definently not get cataracts at 24! So Dr. Boo gets it.

What she did confirm was that Robby had a Leukodystrophy. But we already knew that. She also stated that she learned today that Dr. Naidu is trying to figure out if Robby had a Genetic predisposition that helped cause the White matter damage. The Leukodystrophy was caused by the encephalitis that Robby had in the perinatal stage (within the first 28 days of life) This is the definition of it:
'Perinatal encephalopathy' indicates an insult during the perinatal period (pregnancy, labour, or immediately after delivery) resulting in compromised blood and/or oxygen supply to the baby's brain. This could have serious effects on a child's neurological development, but it may also result in minor effects which could pass unnoticed. Some children escape all side effects and grow normally.
Dr. Naidu discussed with Dr. Boo that she thinks that Robby had some sort of infection in the first few days of life that caused the encephalitis which in turn caused the damage to the brain. He became sick on day 8 of life and they did have him on  antibiotics in the NICU because his WBC count was high. So I guess it could be a possibility. She said he could have caught something in the nursery at the hospital where he was born and we just didn't know it.
But she also said that until Dr. Naidu reaches her final conclusions in her research, which could be years from now, this can only be a hypothisis. 

I asked her what her thoughts were on a prognosis. She feels that Robby will live a long and happy life. Yes he will be slow and not like the other kids but he will be here with us a lot longer than we ever expected!

I wish I could describe how excited Madison was to hear this news. She ran around the house looking for Nonna to tell her Robby wasn't going to Heavan and he was going to stay with us forever. I quickly tried to explain that he is going to be around for a long time but that someday we would all go to Heavan. We just don't know when. I don't want to confuse her god forbid Robby would pass sooner than thought.

Dr. Boo's main concern at this point is the Seizures. We need to worry about them most right now. Seizures... We are now on 70 mg of Lamictel a day and .20ml of Risperdol for the behavior. The increases have helped in the sleep patterns. He is slowly starting to sleep longer at night.

Well that is it for now. I will update my info on the blog and caringbridge site to reflect that he does not have Mito, but I am not going to guarantee that it won't ever be written again.

Goodnight, I am going to snuggle with my babies now!