Just minutes after I sent an email to family updating them on the EEG test, our neurologist Dr. Phillips called. Sometimes quick responses are not the best news.
Jenelle's EEG was abnormal, and she is having seizures. On the phone Dr. Phillips wanted me to describe the seizures I've seen Jenelle have, and after that brief discussion, he asked us to come in for more discussion about treatment. He told me on the phone that he though Jenelle might have something called Infantile Spasms, and suggested I research the internet before our meeting to learn more. Of course, I searched the internet, and what I found was pretty grim. On this day, Brett and I met with Dr. Phillips to discuss the diagnosis and treatment.
Dr. Phillips is 95% sure that Jenelle has Infantile Spasms ("IS"). This is a rare form of Epilepsy, and also the most devastating. What I learned from reading the National Epilepsy website is that IS seizures are subtle, more like "spasms", and can sometimes looking like "tummy crunches", all of which we have been observing in Jenelle. Also, IS has an EEG pattern that is "chaotic", with no regular rhythm (I don't know how to spell the technical word for it). Jenelle's EEG patterns fit this description as well. Of the patients diagnosed with IS, 50% have it due to an "unknown" cause. The other 50% have it because of other underlying neurological problems. The "good" 50% usually have an excellent prognosis, and after treatment, they end up seizure free, and develop normally. The "other" 50% do not have a good prognosis. Of that 50%, 80% end up with severe mental retardation, and 20% of that 80% do not live past the age of 5. The "seizures or spasms" do not respond to normal anti-epileptic drugs, but need to be controlled because once they become more severe, they can inflict brain damage. Many children if untreated can even enter a seizure or spasm state permanently, in rare cases. So, in our case, time is of the essence.
The usual treatment is use of steroids, and one in particular called ACTH. This is a short course, but has some serious and potential life threatening side effects. 60 - 80% of patients respond well to ACTH and end up seizure free. Other steroids are also used (Tomomax and Predisone) and they have a similar, but smaller success rate. The Ketogenic Diet also works well with IS patients, but Dr. Phillips feels that this is not a first step we should consider. His office is setting up a team to begin administering this diet to patients, and it is something Jenelle may need down the road.
Regarding Jenelle... she has some positive things on her side that are hopeful. All of her previous tests (MRI, Blood work, Metabolic test, etc.) were normal, also, she is improving every day and progressing well in her development, and she is healthy. All of this helps her chances of landing in that "good" 50%. We also must realize that Jenelle had problems before the seizures started, so if there is an underlying neurological problem we have yet to diagnose, that may place her in the "other" 50% category.
Our next step will be a 24 hour Video EEG, and this will be done either today or tomorrow, depending on scheduling with CHOC. This is basically the same test she had on Friday, but for a longer duration and with video so Dr. Phillips can hopefully find many different types of brain wave patterns as well as see her seizure behavior. He wants to do this to be 100% sure she has IS before we start the aggressive steroid treatment. If the VEEG confirms Jenelle has IS, we will most likely start treatment immediately. The treatment will keep Jenelle in the hospital for the first two weeks, and will basically kill her immune system. She will be out of daycare for at least 7 weeks.
Brett and I had a long discussion about this last night. I also spoke with our family friend who is also doctor and the one who recommended Dr. Phillips. He is confident we have the best neurologist in Orange County. He also recommended that if it were his child, he would seek a second opinion, but that he would not let the timing of that second opinion hold up the treatment. I am going to make some calls this morning to see if we can get an emergency appointment with a neurologist at UCLA for sometime Friday or Monday, hopefully after the VEEG. However, with or without the second opinion, Brett and I feel that this is a type of diagnosis that is pretty cut and dry, and we are confident that Dr. Phillips is being cautiously aggressive, especially in wanting to wait a few more days to do the VEEG.
Jenelle had a couple of seizures in front of Dr. Phillips, and he thought they were very subtle. He thinks we may have caught this extremely early, which is all the more promising for a better outlook for Jenelle. Most likely if this had gone un-noticed, the seizures would become worse and her development would regress. Again, time is of the essence so that we can prevent any brain damage to Jenelle, and so that her body has a better chance of responding to the treatment.
This is obviously going to be a difficult road ahead, but we are trying to stay optimistic. The percentage numbers are very hopeful. If we can stop the seizures, it is possible that Jenelle's development will improve dramatically, and she will develop very normally. We hope and pray this is the case for her.