An answer with a million more questions

I feel like this title has been used before, but we were literally given an answer with a million more questions. Today we met with Dr. Mendelsohn from genetics, Dr. Kebriaei from neurosurgery, and Dr. Frost from epilepsy. Busy busy day!
Dr. Mendelsohn presented us with Jayen's genetic screening results. Jayen has a mutation on his FOXG1 gene. This mutation is very rare and currently affecting approximately 100 people WORLDWIDE! Jayen's mutation is even more rare! The mutation typically occurs in the front portion of the gene, but Jayen's occurs near the end. Which was explained that could be a good thing. Jayen is far more advanced in his development then other FOXG1 kids. FOXG1-related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Most kids with this diagnosis can't sit independently, don't walk, and have feeding tubes. Jayen is doing well for his diagnosis. I'm not sure what this all means for Jayen, and at this time I'm simply wrapping my head around everything the doctors have told us. No time to think or really ask any questions because it is on to the next appointment.
Dr. Kebriaei apparently didn't have a whole lot to say. He was in and out of the room in a matter of seconds. We were able to say hello to Dr. Dunn too. We gave both of them our Jayen tattoos! They said to talk to Dr. Frost this afternoon and they will work out a plan with him. Ok, Done!

 

On our way to lunch we snuck up to the epilepsy floor to say hello to our nurse friends. We just happened to be there the same time as one of our favorite nurses. Ms. Tina was working! We were so excited to give her a tattoo since she was one of the first people to put one on Jayen when we were here. She made sure to make being in the hospital fun! Thanks Tina!!

 

Dr. Frost was puzzled by Jayen as well. He asked if we were up for another EEG and repeating the MRI. Of course, we felt like that was a great idea but weren't sure how the timing of everything was going to work out. Daddy leaves in 6 weeks. The first week in August is when Dr. Frost is on, so we will be back up in a couple weeks. We just have to wait for Mary to call us back with the details now. In the meantime, we are increasing the gabapentin. Hopefully this will give Jayen a little relief from these long seizures!