Well, I jinxed it with our last update. Jenelle went 5 days without a seizure, then about 2 days after updating the diary, they came back. First they were few and far between, but then they returned with a vengeance and she is now having as many as 12 to 17 a day (that we can visually see… she could be having ones we don't see.) Dr. Phillips was on vacation last week and we couldn't contact him until our appointment yesterday. Prior to that appointment, I called UCLA to get their thoughts on whether or not the new drug was working, and they recommended we wean her slowly off Phenobarbital, because it is likely that it is working against the Vigabatrin.
We saw Dr. Phillips yesterday, and it wasn't the most uplifting appointment we've had. Dr. Phillips agreed to try to wean her off Phenobarbital, and the scheduled wean will take 6 weeks. We will slowly increase the Vigabatrin in the meantime to see if it makes a difference. He felt, however, that most likely the Vigabatrin isn't working at all. Although Jenelle's EEGs show the typical Infantile Spasm patterns, Jenelle has not acted like the "typical" Infantile Spasm patient, nor is she responding to the Infantile Spasm treatments. The majority of her seizures are described as "myoclonic" which means they look like jerks, startles or head drops. He felt that in addition to her Infantile Spasms, she has a "Myoclonic Seizure Disorder" (basically 2 different seizure disorders at the same time) so we need to start trying to treat that type of seizure, which may mean a new drug. He mentioned trying ACTH again and we thought maybe had her confused with a different patient, but he said that sometimes kids respond to a second treatment as they could vary the dosing differently to where it might be beneficial. We reminded him that she became catatonic on ACTH, and he said we should think about it, but wait a little longer to give the Vigabatrin more of a chance. He also said we may consider another drug called Topomax, and told me to get Dr. Freeman's book about the Ketogenic Diet to help us decide whether or not we want to go that route. The Ketogenic Diet is a very intense diet similar to Atkins, and is not recommended for children under a year, but it has had marvelous results in some Epilepsy patients.
So, we're pretty much doing all we can to find the right drug to stop her seizures. The ultimate goal is to stop them completely, not suppress them. UCLA told me that children are the most difficult Epilepsy patients in that once you find the right dosage and the right drug, they grow and then they throw it all out the window, thus starting the process again of finding the right drug. We're in for a long fight. Also, he didn't have the results in front of him, but he thought that all of her metabolic tests from the spinal tap we did in September were normal.
Two wees ago, Jenelle had some Physical Therapy and Occupational Therapy evaluations, and another initial evaluation for California Children's Services. Jenelle has some issues that could start to indicate Autism, specifically her tactical defensiveness and sensory issues. I asked Dr. Phillips if he was considering that for Jenelle, even as her "underlying" diagnosis, and he said no. He felt she had some Autistic lik tendencies, but it was still too early to diagnose, and it was too early to determine which of those Autistic like tendencies are not just related to the seizures. Fifty percent of kids with Infantile Spasms end up being Autistic, so its not something we've ruled out. Dr. Phillips feels that Jenelle has had something wrong all along, but we just can't diagnose it, which is a good thing, and then the seizures on top of that. He said the kids with the "unknown" diagnosis usually have the best outcome, so we should be happy that her's is undiagnosed.
Prior to our appointment with Dr. Phillips, Jenelle had Physical Therapy. I asked her therapist why she still wasn't sitting up. She said that Jenelle has the strength to sit up, but she has a problem with her "vestibular" system, which controls your equilibrium. Her brain does not compute what she is supposed to do with her muscles when she is placed in the sitting position. This can improve with therapy. Jenelle is having her ABR hearing test this Friday, which is a test that measures her brain's response to sound to see if the brain is computing what it hears. This test may give us some ideas as to why she is having the vestibular issues as well.
The great news is that everyone agrees that Jenelle is looking better than they've ever seen her. She is still improving on her motor skills, still trying desperately to crawl (she loves that swimming motion) and she is starting to chew her foods, so I'm introducing diced peaches and pears as well as cheerios into her diet. She is making eye contact and is more interactive and playful with us. The middle of the night waking have gone away for now (and now I've probably jinxed that too), but she still has difficult getting to sleep, which I would assume would be due to the Vigabatrin. She started back to daycare on November 12, and I went back to work.