Appointment with Neurosurgeon

Today was a long and emotional day for us. 

We saw Henley's surgeon today and were able to sit and talk with him for about 45 minutes. We talked about Henley's MRI results from last Thursday. We were able to confirm what we were pretty sure we knew last Thursday after reading the radiologist reports and reviewing the images ourselves. Here are the basics in a nutshell:

1. Henley's Chiari has gotten larger in size, which is causing more crowding at the base of her skull than it was originally...However, we are not seeing some of the same symptoms we were back then. Her Chiari started out being a 3mm (when she was 9 months old) and now it is a 12mm. Basically, what that means is that her cerebellum is falling below the base of her skull 12 mm into her spinal column. (I will attach a picture for that to make sense)
2. Henley has scoliosis now.
3. She also has an extra vertebrae in her lumbar spine. I've talked to several doctors over the past week and apparently that is weird, but not anything anyone is going to do anything about. It actually makes her lumbar look awkwardly curved.

Our Doctor still does not believe that Henley's seizures are being caused by the Chiari and gave us his medical reasoning for that. He said that if we should be most concerned about any ONE thing, the seizures would be what he would be most worried about. Good to know, because I was for sure it would be the weird extra vertebrae and the brain falling out of her head.

We talked about another surgery to make more room for the spinal fluid to flow freely and he said that we absolutely could do that, but he was not certain that it was not going to make things worse rather than better. If we continue to give the brain more space to move, rather than staying put, it could continue to sag and travel down into places it shouldn't. My response was "So are we just supposed to wait and see if she gets a build up of spinal fluid in her spine before we do something?" To which he answered "Yes, because of the risk involved in surgery may not be enough to outweigh the benefit at this time"

We also discussed her rare genetic disorder. I have not talked a ton about that on here because we know so very little about it. Her genetic condition does not even have a name yet. It's called 16p11.2. As of January, there were only 307 documented cases of this in the world. I am certain more will pop up over time, and so as time goes on we will know more about it. However, because it's so rare, there are not many doctors in general who have even heard of it, much less know how it affects the child/person who has it. For this reason, Dr. Roberts suggested we try to get a second opinion from a neurosurgeon who knows and has potentially done surgery on a child with both 16p11.2 AND Chiari. (That ought to be easy to locate...goodness!) He also mentioned that if her problems were at the cellular level that surgery might not be effective anyways.

At the conclusion of our meeting we decided to go back to 6 month MRI's instead of yearly and that we would talk again after we received the results from the Whole Exome Study. In the meantime I will be scouring the internet looking for a surgeon who we can go to for more answers.

On my way home I contacted Boston Children's hospital and they told me that our case sounded very complex and that they would have to get back with us....so I will hopefully hear back from them next week sometime.

Please keep us in your prayers as we are so desperate for them. We need strength and peace. We need direction and answers. Please beg with us that the Lord will send exactly who we need to be working with.