Tuesday, August 28, 2012

The Big Players part 5 - Neurology

Sorry for the delay in the final post of bringing everyone up to date. I was trying to wait until I heard back from some doctors so I could write with certainty, but that is not to be for a while yet. So for now much of this is still up in the air.

Neurology is a new service for Tomas, but it shouldn't be. I had tried for almost a year to get an appointment with the clinic here in NY. Periodically making calls to the clinic and complaints to whoever would listen, but his neurological issues just weren't severe enough to warrant any urgency on their part.

Or so we all thought, including me, which is why I never went bonkers on anyone trying to get an appointment. Up until early July we all thought he had some fairly minor neurological issues; mild ventricular atrophy (a small degree of shrinking in the left and right ventricals), pons hypoplasia (underdevelopment of the pons), a benign arachnoid cyst and of course the largest of his "minor" issues, the intracranial hypertension.
The intracranial hypertension was found last August during an eye exam when doctors were checking for fungus balls throughout his body during a severe illness. Tomas had so much fluid build up in his skull that it was pushing on his optic nerves and causing swelling in his eyes. Left untreated that can cause blindness. But thankfully it was discovered, an emergency lumbar puncture was done on a Sunday - the second time in his little life that day surgery has been opened just for Tomas and staff was called in just for Tomas - which measured his spinal fluid pressure (it was very high) and also relieved his swelling by draining some fluid. Many tests were run but no cause was found (of course) so he was given the diagnosis of idopathic intracranial hypertension, started a medication to regulate his cerebrospinal fluid production, and referred out to a neuro-opthalmologist to treat and monitor his eyes. Once the eye pressure was regulated, the neuro-opthal wanted to hand the reigns of the management for the intracranial hypertension over to neurology, so I began in earnest to push for an appt. Which brings me back to last month and Tomas' first visit.

During the appointment the doctor was very thorough, went through all of Tomas' issues with me and went over his illnesses and hospitalizations as well. She said that it was crazy that metabolics had cancelled the testing for a ketone utilization defect because it sure sounded like a beta-oxidation defect to her. I know, lots of words, but this diagnosis would explain his hypoglycemia and possibly his liver issues and has been on the table since March of 2011 with zero progress made. Neither dismissed or confirmed. So as we were wrapping up she agreed to do some further testing into the mitochondrial disease arena and just wanted to review his MRI from last August.
While she was looking at the screen she got very agitated and upset and showed me why. Tomas had a very small cerebellum, with little to no visualization of the vermis on the film. I had no idea what that meant and told her. I didn't even know there was such a thing in the world as a vermis (it connects the cerebellum to the spinal column). Turns out this is a big deal and she was very upset that it wasn't flagged on the MRI, according to her it is very obvious, there is a bunch of black space around the cerebellum that shouldn't be there. She scrolled down to see who read the film and it wasn't a pediatric neuroradiologist, and her best guess is they were looking for something else on the film and just didn't read it thoroughly. She's right - the MRI was done during his fungicemia/septicemia hospitalization and the doctors were looking for stroke like activity.
The cerebellum is in the hindbrain and controls a lot of muscle coordination. Because the pons is also in the hindbrain (and his pons is small as well) she is concerned that there is a significant issue in his hindbrain development called pontocerebellar hypoplasia.
Right now there are two posibilities for why the cerebellum is so small; either it never developed correctly in the first place, or it has shrunk. The only way to know is to repeat the MRI and get a copy of his 2009 MRI from the Dallas hospital. Comparing all three will give her an idea of whether the cerebellum is staying the same or getting smaller. Underdevelopment would be the kinder of the two, as a shrinking of the hindbrain would point to a degenerative disease. In either case though, this is most likely the explaination for why he is not talking or walking yet.
The doctor said that without a fully developed cerebellum communication between various parts of the brain and nervous system can be severely affected and can cause something called ataxia, or uncoordinated neurological responses. Muscle ataxia will affect movement and speech ataxia will affect language. She said that given his status right now, gross motor skills may or may not develop further, much of that will depend on whether this is a degenerative disease or a malformation. She also said at this point speech may not be attainable, that the level of coordination needed for language far surpasses that of motor coordination and we should set up realistic goals for Tomas with his therapists.
When I got home and did some research a friend sent me information on a research program at the University of Washington in Seatlle on hindbrain malformations. I sent the group an email and they agreed to review Tomas' films. And that is what I am still waiting on, everyone's opinion on whether this is a malformation or progressively degenerative disease. The NY neurologist is on vacation until the end of this month, and the Seattle group could take months to get back to me.
So we wait knowing only for now that his hindbrain is significantly smaller than the rest of his brain. Knowing that there is a possibility he is fading from us, and knowing that even the best case scenario means his struggle to walk and talk may not be something he can overcome no matter how much help we give him.


  1. Dorothy, I am so sorry that you got ambivalent at best, upsetting at worst, news. I am glad, however, that answers may await you and little Tomas. God love him, he is such a trooper. Thinking of you guys always. The waiting is torturous, I know.

  2. So sorry. That's a lot to take in. And no fair for for Tomas that life has to be so complicated. Prayers and hugs!