WOW, there is so much to report, I'm warning you now, this is going to get long. The Pediatric Epilepsy Conference given by the Epilepsy Foundation was this weekend in Lakewood, California. This is the one I've been telling you about where I got to present Jenelle's case to about 150 parents and doctors. We met with Dr. Charlotte Dravet, who was the keynote speaker for this conference, on Friday and she was able to examine Jenelle. Dr. Dravet is famous for not only her own Epilepsy Syndrome (Dravet Syndrome, or Severe Myoclonic Epilepsy of Infancy) but she worked with Dr. Gastaut, and wrote the thesis on Lennox Gastaut Syndrome.
We saw Dr. Dravet for over an hour and she examined Jenelle and viewed her first video EEG from September 2003 as well as her PET scan from UCLA. After her examination, she informed us that "Jenelle does not have Epilepsy".... "WHAT?" It is her opinion that Jenelle had Infantile Spasms, but not "true" Infantile Spasms (on the EEG she saw, she did not see Hypsarythmia - the "tell tell" sign), and that Jenelle's seizures are not coming from her brain, but are most likely caused by an unknown "disease" and/or metabolic disorder! I nearly cried when she said this, and Brett said he felt like he wanted to hit her! ;) We left UCLA on Friday in utter shock and disbelief, but we felt some relief in knowing Jenelle did not have "true" Lennox Gastaut. The faculty doctors aparently spoke about Jenelle that evening and still wanted me to present her case because it was so "unusual!"
When we arrived at the conference, it seemed as if we were the talk of the town amongst the faculty and staff. Everyone had already heard the shocking news that Jenelle had seizures, but that it was not Epilepsy. Jenelle's Neurologist, Dr. Shields, was apart of the conference as well, but and he was not scheduled to be there on Saturday, so we had to wait a day to break the news to him! The conference was amazing. Not only did we get to present Jenelle and get invaluable feedback on where to go next, I was able to meet many parents I've made contact with over the internet from various support groups. Some parents traveled as far as Vancouver, Maryland and Atlanta. We brought Jenelle with us and many recognized her immediately from her photos and our website. It was truly like meeting old friends, and friends that knew and truly understood the kind of confusion and frustration we were experiencing. We are so thankful for the opportunity to meet with Dr. Dravet - where we go from here is yet to be decided when we meet with Dr. Shields soon.
Today, I went to the conference with Jenelle for the sole purpose of seeing Dr. Shields. When I told him about Dr. Dravet's opinion, he was surprised, but he also said he didn't agree. He definitely wanted us to get back into to see him so we could discuss everything in detail. I told him I still had doubts because Dr. Dravet only saw one EEG, and did not have the opportunity to see Jenelle's last EEG from April 2004, where we caught a grand mal. The only reason she was unable to see it on Friday is because we did not have a VHS Machine available. Dr. Shields agreed that he would have been interested in her opinion after viewing that EEG and said we needed to meet soon. As I walked out of that conference room from talking with Dr. Shields, I noticed a "vendor" table that was playing a video tape. I quickly ran to find Dr. Dravet and she followed me to the table so she could view Jenelle's video tape. After watching the tape, she said, "You daughter is very strange, and yet very interesting!" (Just the thing you want to hear from one of the world's top neurologists!) Jenelle's brain waves do not match what she is doing on video. She changed her opinion slightly, and said she feels Jenelle does have LGS seizures, but maintained that they were not neurological in nature, but rather caused by something metabolic.
So... What does this mean? Well, it does not change the treatment. We continue with our main goal of stopping her seizures. It does not necessarily mean we cannot try the diet - I asked Dr. Shields about this and he specifically said he still wanted to try her on it, but would be quick to stop if things didn't work out. We were given the name of a metabolic specialist from Cedars Sinai that we may look into seeing. We also have our upcoming appointment with the Kidney Doctor from CHOC on Tuesday, so that may shed some light as well. The big problem with the metabolic issue is that most of the doctors agree that Jenelle has already been tested for the metabolic conditions that are "treatable", which indicates that whatever metabolic disease she may have may not be known or is yet to be discovered. The problem with testing for something that is unknown is that there is no cure, so you won't find many doctors willing to continue testing.
So, we will continue with our upcoming appointments, and the path we were on. In case you are wondering what the title of this update means... You may not be familiar with the new show on FOX called "House"... It is about a doctor who specializes in "differential diagnosis" and/or "thinking out of the box". While driving home from UCLA on Friday evening, we laughed and said, "We need to find a Dr. HOUSE!"
We see the Kidney doctor on Tuesday - I'll keep you posted! Thank you for the continued prayers.