We're baaacckkk - what we know about chiari and HPP

Hi Everyone! It's been a long time -- in fact the last post was in August 2013 which as you can see above that Cannon was tested for optic nerve pressure as part of his clinical trial for his enzyme replacement therapy.

During that day - that test you see above - they detected elevated optic nerve pressure, which can indicate pressure on the brain. Cannon has craniosynostosis, a skull abnormality that results from premature fusion of the soft spots in a baby's brain before the brain is fully developed. We have been watching for pressure since Cannon was a baby and we thought we were out of the woods, but during his last checkup we saw the elevated pressure and had an MRI.

The MRI showed no issues with the craniosynostosis, but instead uncovered a different skull abnormality called a chiari malformation. Basically the craniosynostosis can cause the back of the skull to push down lower than normal, causing the back of the base of the skull to push down and inward, putting pressure on the top of the spinal column. Not only was there pressure, but evidence of a large sryinx, which is a pocket of spinal fluid that indicates that fluid is not flowing normally down the spine. The pediatric neurologist that made the diagnosis was shocked that Cannon did not have any headaches, tingling in his limbs or other neurological issues. I will see if I can dig up the images of his chiari and sryinx. It was one of the few images that I've seen (with an untrained eye) on an x-ray where it was clear what the issue was.


The recommendation: a chiari decompression surgery, which is basically a craniotomy, or a removal of the bone that is causing the issue. A second opinion at Children's Hospital of Philadelphia (CHOP) yielded the same conclusion/recommendation.

Interestingly, chiari malformations are uncommon but both surgeons we saw averaged approximately three decompression surgeries per month!  

So tomorrow we head to the neurosurgery of CHOP in the Woods Building for our surgery with an arrival time of 9am. The only variable in the surgery is how invasive the procedure will have to be in order to relieve the pressure. Best case scenario: they remove the bone and the pressure is relieved and the fluid flows freely. Otherwise, if the ultrasound shows the fluid is not flowing, they need to go deeper, cutting through the dura (casing surrounding the spinal column and brain) to further relieve pressure. We are hoping for the best case, obviously!

We will keep you posted on his progress. As for tonight we had his favorite dinner, shrimp scampi and two brownies (minus a la mode).

He actually asked me if I could do an intro to send a message to everyone -- so here is a link to it. More to come tomorrow.

http://instagram.com/p/ltIxmLhSMq/