When Ella (soon to be 6) was about 14 months old, she had 4 seizures within a week. Her ped told us to discontinue her pertussis series as it could have been a reaction. Also, neurologists at Vanderbilt put her on phenobarbitol for a year. She had no seizures while on the med, and none for 2 yrs after coming off it. Last year she had 4 seizures, one in March, one in April, one in July, and one in August. She had a 24 hr video EEG and an MRI in May, and a 48 hr ambulatory EEG and another MRI in November. The MRI in May revealed that she had the myelin level of youir average 2 yr old, the lack mostly evident in her temporal lobes. The followup in November showed no change. Ella is an average/above average almost 6 yr old, I homeschool her and she is ahead of her same age peers by a year in schooling. She has no motor issues, nothing that is a symptom of this lack of myelination.
Myelin is the fatty substance that surrounds your neural nerves, and helps impulses pass from nerve to nerve smoothly. As a baby and a young child, where you do not yet have myelin, you have water. It is an inferior conductor. It was supposed that perhaps Ella was just slow at producing myelin, and that was the road that her neurologist encouraged us to take. Just wait and see, no dietary or supplement changes. But you are done with myelin production by about age 8, and Ella will be 6 next month. She has the myelin level for your average 2 1/2 yr old.
I called The Myelin Project and spoke with people at that foundation (They were responsible for the movie Lorenzo's Oil, about a boy who was losing myelin). They put me in touch with Dr. Moser at Johns Hopkins, as well as a doctor in Chapel Hill, not far from where we live. I sent them her file, but got the runaround from WakeMed about releasing her MRI results, so they never got sent. I got pregnant, and got distracted.
Johns Hopkins' Kennedy Krieger Institute invited us to come up for a consultation, but without the MRI films getting sent, no one ever followed up. Its a big place, I can imagine they dont keep track of everyone.
Well, Ella had another MRI on Monday, and it showed no change.
So Johns Hopkins and Dr. Escolar will be getting her MRIs within the week, and I will be in search of some answers.
The information online is mostly in medical-speak, there is some out there, but it is difficult for the average person to understand. We don't know the answers to many questions, like:
1. How is myelination measured?
2. What is the normal measurement for her current age? What would be abnormal/low? We are just trying to find out if she is still in the low normal range or if she has fallen off the normal range.
3. Is the "lack of change on her MRI" probably a lack of change relative to where she should be, or would it be an absolute lack of change?
4. Why is Ella a slow myelinator? What reasons are there for such a thing?
5. Would anyone be able to tell that she is a slow myelinator rather than that she has ceased myelin production?
6. If she is a slow myelinator, are the seizures an issue that is (or can be) indicative of this lack?
7. How long in terms of years can she have normal neurological function with an amount of myelin appropriate for a 2 1/2 yr old?
8. Is our neurologist correct in his wait and see approach, or should we be seeking any answers about dietary changes or vitamin supplements?
So hopefully I will hear back from Dr Escolar and from my contact at Johns Hopkins today, and we can get going on this.
Not really what I needed to hear or deal with at 6 weeks post partum, but you just roll with the punches around here, you know?
Prayer and vibes and thoughts appreciated. If you are the praying sort, here is a specific request:
Please be praying for us as we digest what this means, to not be depressed or lose hope, and to trust in God to surround us with his peace and wisdom about what to do next. And for the radiologists, neuros, and specialists to receive the information and review it with discernment and to help guide us in our understanding of hypomyelination.