We got the results from Emma's recent MRIs at CHLA today. I say that they are "long-awaited" because we've wanted her to have a brain MRI for a long time. We felt that it might shed a little light on some of Emma's problems, but we were always told that we had to wait until she was somewhere between the ages of 2 and 3.
On September 29th they imaged her chest and spine (because of the cyst in her chest) and her brain (because of her neurological symptoms and microcephaly). Since Emma had an appointment to see the pediatric surgeon at CHLA, the one who had ordered the chest MRI, we decided that we would go down to radiology and pick up a CD of the MR images and the reports while we were there.
Emma's new neurologist, Dr. Imbus, wants to see the brain images of course. He surprised us at her first appointment with him when he told us that she DOESN'T have spastic diplegia! So I asked why she couldn't walk yet, and he said that part of the problem was that she's hypertonic in her legs and she can't straighten them out very well. But I guess that begs the question....WHY is she hypertonic in her legs? And WHY is she hypotonic in her trunk?
Anyway....back to the MRI results. I was absolutely floored when I read the results of the brain MRI. The "Findings" section says:
"The cerebellum is malformed with the central white matter continuous across the midline. The ventricles are normal in size and configuration. The brain parenchyma is of normal signal intensity on all sequences without focal abnormality. Myelination is appropriate for the patient's age."
The "Impression" (is that a formal diagnosis or just a WAG??) section says: "Rhombencephalosynapsis, a malformation in cerebellar development."
I Googled "rhombencephalosynapsis" and found out that it's SO incredibly rare, they think that fewer than 1 person in a million has it. Only ~50 cases have been reported in the literature. And the same literature reports that most of those who have it die in childhood, although I found a few references to adults, mostly in their 20s and 30s but one woman who was 48 years old.
I'm really, really freaked out right now. Holly, I know that you know EXACTLY how I'm feeling. :(
I tell myself that we haven't heard this "officially" from Emma's neurologist yet. And if rhombencephalosynapsis is so rare, how many times can the doctors at CHLA have seen it? What if they're wrong? Also, if it's so rare, then the odds are that Emma DOESN'T have it....right?
And we have the Great Physician on our side....I must remember that too.