We traveled to UCLA to meet with Dr. W. Donald Shields who is in the Pediatric Neurology Department and is the head of UCLA's Epilepsy Program. While we were joking that we were there to check out UCLA as a possible college for Jenelle, we were very anxious to get some answers about her diagnosis of Infantile Spasms. Everyone at UCLA was absolutely wonderful, and we got a lot of straight-forward answers, as well as some choices to consider. Dr. Shields did not "sugar-coat" any of the information and spent lots of time talking with us. We also met his nurse Sue, and she spent a great deal of time with us answering lots of questions. She was absolutely wonderful and so very understanding and supportive. What a great team they were.
First, the "hard" facts... Dr. Shields confirmed that Jenelle's diagnosis is Infantile Spasms. We were not really questioning the diagnosis, but he pointed out two of Jenelle's EEG patterns, and said that unmistakably, those were signs of IS. In a way, it is comforting to have such confirmation and know what we are fighting. Dr. Shields considered Jenelle's history, and felt that her global delays were fairly severe. Because of this, he felt Jenelle has a strong chance of being a part of that "bad" 50% of patients with IS... those with the "bad" prognosis as well. Basically, for Jenelle to be in the "good" 50%, we need to hope that her seizures were there from day one, and that we just didn't recognize them, then this would be the cause of her development delays, and once we stop her seizures, she will develop "normally." He also felt that Jenelle has a 30% or greater chance of being Autistic, and a 30% or greater chance of developing another form of Epilepsy around the age of two called Lennox Gastaut Syndrome (LGS), which is similar to Infantile Spasms, but the prognosis is even more severe. If her seizures had gone unnoticed or untreated, she would definitely develop LGS. So, those are the "hard" facts based on Jenelle's history, from the nation's leading expert in the field. Dr. Shields treats only patients with this diagnosis, so he knows the statistics well.
So, we now have to make a decision between two drugs. One drug is the ACTH steroid. ACTH is FDA approved (and covered by insurance), begins in the hospital, is an injection that must be given twice a day for 6 weeks, has serious, life threatening side effects (including decreased immune system) and has a 50% chance of working. Once treatment begins, we'll know within 2 weeks if it is working, and if it stops her seizures, she is done with the drug in 6 weeks and may never need it again, unless she has a relapse. The side effects are reversible. The other drug is called Vigabatrin (Sabril) which is not FDA approved and must be obtained in either Canada or Mexico. Vigabatrin comes in pill form, and does not have the severe side effects associated with ACTH (including the fact that it will not alter her immune system, and she does not need hospitalization.) Vigabatrin has been in use everywhere except the US for 10 years, and has not been approved by the FDA because there is a report that some patients (1 in 3) experience partial and permanent vision loss (most end up with tunnel vision). When describing this "side effect" of Vigabatrin, Dr. Shields said basically we're choosing between a "mentally retarded brain" for life, or "vision loss", which of the two, the vision loss is acceptable if the brain can function normally. If it works, Jenelle could remain on Vigabatrin for as little as 3 years, or the rest of her life.
Both drugs have about a 50 - 70% success rate, and often times, one drug does not work for a patient, but the other will. So, it is possible that we can choose one drug, but end up needing the other two weeks later. Dr. Shields says he also has patients using both drugs at the same time. It just depends on what works for the individual to stop the seizures - sometimes each person needs a different "mix" for it to work. Dr. Shields agreed with our neurologists (Dr. Phillips) plan for treatment for Jenelle, starting with a B6 treatment, and the low dose of ACTH, if we didn't want to use the Vigabatrin. Dr. Shields also recommended doing a spinal tap to rule out three other rare metabolic disorders that can only be detected in the spinal fluid. He also recommended that we would be more comfortable treating Jenelle at CHOC since it was closer to home, but offered that they were a phone call away if we needed anything in regards to the Vigabatrin, if we go that route.
We spoke to Jenelle's Neurologist, Dr. Phillips on the ride home and again the next day about our options. Dr. Phillips does not want to start with Vigabatrin, and will not provide a prescription for it- he is just not comfortable with the ethical issues concerning his license and we understand. His reasoning for this is that Vigabatrin does not have any long term studies so there is no evidence that Jenelle's seizures could not return at age 5, and so on. ACTH has been used for about 50 years, and there is evidence that if it stops the seizures, it does so permanently. He said if we could get the Vigabatrin, he would help us use it. The plan as it stands today is that Jenelle will be admitted to CHOC on Monday, September 29 for a spinal tap, a video EEG and a B6 Treatment. We need to choose which drug we plan to start by Monday.
Brett and I realize that there is no "wrong" choice here, in that both will help Jenelle, but there are many things to consider with both drugs. We spoke to Dr. Shield's nurse Sue a few times since our appoitnment and she is making arrangements to fax a prescription to Canada for us to get the Vigabatrin - in case that is our choice. It would be so much easier if it were as simple as "it is a tumor and it needs to be removed", but with the choice of two drugs, with completely different and complex things to consider involving each, we really have a tough decision to make this weekend.