We met with Dr. Phillips today as a regular appointment for Jenelle, but also as a follow up to her recent hospital stay. The short story is, he is out of ideas and wants us to go back to see Dr. Shields at UCLA to see what he thinks about Jenelle.
Some of Jenelle's recent metabolic tests (taken in January) came back abnormal, but nothing really pointed to any real diagnosis. In fact, we've repeated the same metabolic tests 3 times, and each time they were abnormal, but the abnormal areas were different with each test. He has no clue why this is!
He reviewed each and every page of Jenelle's 48 hour EEG and said that there were no seizures, even though I the seizures that I saw. He disagreed with Dr. Trice in that he doesn't think the seizures are coming from deep in the brain and therefore not registering on the EEG. When we describe her seizures, especially her new grand mals which we didn't catch on the latest EEG, he agrees that it sounds like a seizure, but he is baffled as to why they don't register on the EEG. He even said in reviewing the results, he thought he saw some seizure activity, but then on video, she did not appear to be seizing in the normal fashion associated with such an abnormal pattern. He put us on a new drug called Klonopin (which has a component of valium in it), and we are going to take her off the Topamax because it clearly isn't working.
We discussed the Ketogenic diet. He said it is not an option right now because she has too metabolic instabilities. The diet can cause serious metabolic abnormalities, so it is best to wait for now. I disagree somewhat with this because I've read the diet is only used for kids with difficult to control seizures. If her seizures are so uncontrollable, wouldn't that be all the more reason to try to diet? We understand his decision.
Dr. Phillips has often suggested that I be a stay at home Mom with Jenelle. We talked about this and I asked him directly if he was keeping something from us. He said he wasn't keeping anything from us, but felt that some kids do better with the one on one attention. We then talked about Jenelle's developmental regression. He is very worried about this, and feels that she is going in the wrong direction. Jenelle's PT has noted that she is weak on her right side, and I've noticed that she is no longer rolling from tummy to back, something she used to do with ease. This could be because of the grand mals, or because Jenelle has an undiagnosed degenerative neurological condition. The later of course is the worst case scenario, but it does mean that if her condition is degenerative, she will regress until she dies. He said we weren't there yet, but he is concerned because she is regressing, and since we don't have a diagnosis, this (the degenerative neurological condition) is not something we can rule out. He also said that he would strongly advise staying home with Jenelle so we didn't have any regrets should an early death be the outcome. I told him about some of the new things Jenelle was doing. He was happy to hear it and told me that I really only tell him the bad stuff. He felt much better about things since she is progressing in other ways. Of course we aren't at the worst case scenario yet, and I have no regrets working because Jenelle is getting more treatment at daycare and her special school than I could give her if we stayed at home. Those therapies benefit her more.
I put in a call to Dr. Shield's nurse at UCLA who was gone. Hopefully we'll hear from her soon and we can get in quickly. We are going to see Dr. Phillips again in 3 weeks because he wants to closely monitor Jenelle on the Klonopin. I am also looking into places outside California like Johns Hopkins or Mayo Clinic to see if they can review her records. I think at this point Jenelle is such a mystery, I'm sure getting outside ideas about her health may be productive.