Boston

Let me start by thanking everyone for their prayers and well wishes, it seems to be working! I am going to try to keep up with updates while we are here, as I know there are so many people along on this journey with us.

We had our first appointments yesterday at Boston Children's Hospital and I am so impressed with their team. The doctors really listened, were never rushed and had some ideas already about a course of action for Jack. Our first appointment was with Genetics who evaluated him and discussed in detail all of his abnormalities with his urine and blood work along with physical symptoms. Their concern is the same as our doctors at home... he has so many different systemic issues that can't be explained as to why they are occurring. Genetically he doesn't fit into any of the "more popular" syndromes and so far our genetic testing has not revealed any abnormalities. After much discussion he is being referred to their metabolic team. This team deals with the more rare disorders and since he has some metabolic abnormalities it seems like the perfect fit. This team will come in and evaluate him and complete their testing while he is being monitored for his epilepsy.

Our next appointment was with neurology. Her concern is the evolution of his seizure type and the fact that even with medications he is still seizing and having abnormal electrical discharges in his brain. She has reviewed all of his past EEG's and MRI's and feels that his epilepsy may have started as a focal type but has now evolved into a generalized type. This means that the seizure has no particular focal point of origin and that his whole brain is seizing not just one particular area. What does this mean? This means we will repeat testing and long term monitoring starting the 19th to get another view of his seizures and how and where they are occurring in his brain. If they are in fact generalized we will first try some medication changes and then discuss two other options. One is surgery and one is a VNS which is an implanted device that helps control seizures.

This is the short version of our 8 hours yesterday. I am hoping Jack gives us some good data next week and that both teams can find a solution! Again, thank you to everyone who is praying for us and sending us good vibes. Special thanks to the MOPS from FUMC for feeding Michael and the girls and to all of our wonderful friends that are helping out with Holly. More special thanks to all of our great friends who contributed to keeping Jack and I warm and entertained during our trip!