Monday, September 29, 2003

It was a long weekend and Brett and I seemed to have changed our minds hourly about which treatment to begin for Jenelle. After much thought we decided to go with the FDA approved ACTH treatment as our first choice. We still have a prescription of the Vigabatrin coming from Canada in case we eventually need it. Basically, although the potential side effects of ACTH will be difficult, they are not permanent. Brett has had poor eyesight all his life, and he said he didn't want to risk that for Jenelle, in that the vision loss from Vigabatrin is permanent. Also, we know what the long term results are with ACTH, whereas there are no long term results from the Vigabatrin, so we just didn't want to regret using it 20 years from now unless we really needed to use it (i.e.: if ACTH doesn't work.)

Jenelle was admitted to Children's Hospital Orange County and we started another Video EEG for her B6 treatment. Once they were ready to do the B6, Jenelle had to be taken to the PICU for the treatment. Apparently if she had truly been B6 deficient, the injection of B6 would throw her system into shock, and make her stop breathing. Better safe in the PICU than sorry! Jenelle did fine with the B6, and obviously, it didn't stop her seizures.

Jenelle had her spinal tap done the following day. The resident that performed the procedure said it went very well, and she got everything on the first "poke" with very little blood! We won't have those test results for at least 6 weeks. We will start the ACTH on Wednesday. Most likely, she'll stay in the hospital until Thursday or Friday at the latest. She has a private room which is nice, but also it was given to us because the ACTH will weaken her immune system. If all goes well and she is home on Thursday, she will go back in another week or two to repeat the 24 hour Video EEG to see if the seizures have stopped. If at that time, she is still having seizures, we'll wean her off the ACTH and start Vigabatrin.

Thursday, September 25, 2003

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.

Wednesday, September 17, 2003

I spoke to Dr. Phillips today, and I informed him of our appointment with Dr. Shields at UCLA next Thursday. Upon hearing this, Dr. Phillips said that he wants us to wait on treatment until we see Dr. Shields, and at the very latest, check Jenelle into CHOC on Friday the 26th to begin treatment. Dr. Phillips said that Dr. Shields is one of the top 5 Pediatric Neurologist in the country, and probably the best of everyone in regards to Infantile Spasms. He was very excited, and wanted to hear what Dr. Shields recommends. Dr. Phillips also told us that Jenelle's case is so interesting, he would have no problems if Dr. Shields wanted to keep Jenelle at UCLA for treatment, but either way, he wants treatment to begin as quickly as possible after our consultation. This is very comforting to hear. We didn't really want the second opinion to confirm her diagnosis, but we think it will be very comforting and beneficial in helping us choose the best treatment for Jenelle.

We also spoke about the various treatment options, and he explained how we will begin the ACTH, if that is the route we choose. Most likely, Jenelle will be admitted to the hospital on Friday, September 26th, and he will start an IV first with a Vitamin B6 injection along with an EEG running. He said within an hour of the Vitamin B6, we should know whether or not Jenelle's seizures are from a Vitamin B6 deficiency, and if so, we may not need ACTH at all. This is also very encouraging. So, we are in a holding pattern until next Thursday! We plan to enjoy the weekend with Jenelle and get the home organized for this long road ahead whether or not it be UCLA or CHOC.

Tuesday, September 16, 2003

Brett spoke with Dr. Phillips on the phone today, and he informed Brett that after reviewing all of the results from Jenelle's 24 hour Video EEG, he is now convinced that her diagnosis is Infantile Spasms. He wants Jenelle to start the steroid treatment as quickly soon as possible, and spoke to Brett about our treatment options. Our choices are either ACTH (steroid injections) or Topomax. He believes the ACTH is aggressive and has the best overall results, however unfortunately, it also has the worst side effects. If we start Jenelle on the ACTH, it is possible to do another EEG in a week, and we will know that quickly whether or not it is working. Though the side effects are risky, Brett and I feel we should give Jenelle every possible chance to beat this and we are inclined to go with the aggressive ACTH. We still are still deciding though.

Regardless of which drug we use, Jenelle's immune system will be decreased, and we will need to limit visitors at the house, and our activities during this time. Jenelle will be out of daycare for at least 7 weeks so that she is not exposed to any sickness at daycare. CHOC hospital encourages visitors, but they should be healthy, and use precautions so as not to expose Jenelle or other patients to any sickness. Dr. Phillips gave us a day to discuss our options, and because I had some more questions, we planned to talk the next day about our decision.

Friday, September 12, 2003

Brett and I have been overwhelmed by the many calls and emails of support, love and prayers for our family. We are still trying to come to terms with our emotions and with trying to make such quick decisions for Jenelle. This has all happened very quickly, and it helps to know we have so much support and love. Thank you.

Jenelle's 24 hour Video EEG began on Thursday, September 11, 2003 at 11:00 a.m.. She was released the next day about the same time. It was a little weird checking her into Children's Hospital on such an emotional anniversary as September 11. The test went well, and I stayed with her the entire time, and Brett only left that night to take care of Jack. I "marked" many, many "events" that may or may not have been seizures - over a hundred I believe. Dr. Phillips arrived the next morning and met with us before releasing Jenelle. He studied some of my marked events for about 10 minutes and felt some were seizures, and that some were not. He is still not certain if she has Infantile Spasms which means he was not ready to start the aggressive treatment that day. The VEEG results will take two days to process, and we will talk with him again on Monday. Because we confirmed that Jenelle is having seizures, he placed her on Phenobarbital which is an anti-seizure medication common for patients with Epilepsy. Jenelle definitely has Epilepsy, what form we are not certain. True "IS" will not respond well to the Phenobarbital (meaning the seizures will continue) so that may help us in the diagnosis.

Through another Mom friend from daycare (the same who suggested Jenelle might be having seizures) we were given the phone number for a parent who's daughter is a patient of Dr. W. Donald Shields at UCLA. Dr. Shields is the leading authority on the West Coast (if not the nation) for Infantile Spasms. She gave me a private number for his personal nurse assistant, I left a message with her during the night of Jenelle's VEEG. The nurse called us back minutes after Dr. Phillips left Jenelle's hospital room. We mentioned UCLA to Dr. Phillips, and he was all for us contacting them as well. Dr. Shield's nurse got some more information about Jenelle and her history, and said she would speak to Dr. Shields that afternoon to see if he wants to personally see Jenelle. She promised to get back to us that day, and she spoke to Brett later in the day informing him we would be seeing Dr. Shields on Thursday, September 26, 2003 at 1:00 p.m. When I originally spoke to Dr. Shields's nurse, she said they knew Dr. Phillips, and we were already seeing one of the best in regards to Epilepsy. That was comforting.

So, we had some more time to wait, and now an appointment for a second opinion. It is still very possible that Jenelle could be back at CHOC next week sometime to start the steroid treatment. Regardless, we do know that she is having seizures, and we need to stop them in any way possible so we can avoid any type of brain damage. At least we know have some idea of the direction we need to go.

Tuesday, September 09, 2003

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.

Friday, September 05, 2003

Jenelle had her first EEG today at Children's Hospital. We will not have results for at least 7 days, but the technician said she got some good readings and overall it would be a good test and helpful to the doctor. It was a very easy test, and with Jenelle's bald head, it was easy for the technician to find the places to place the monitors.

They wanted Jenelle to be "sleep deprived" for the test, and instructed us to "wake" her at 6:00 a.m., and to keep her awake until the test at 11:00 a.m. Jenelle usually wakes up at 7:30 or so, so the early hour didn't upset her too much. She had no problems staying awake until it came time for us to drive to CHOC... ah, the magical car ride parents usually love to use to put their children to sleep! Brett drove while I sat in the back next to Jenelle and tried to keep her awake by bumping her seat and opening her eyes. It was a difficult 10 minute drive, to say the least. Once we were at the hospital, I took the very sleepy Jenelle over to the drinking fountain where I put her feet under the cold water... worked like a charm!

Just as we met the technician, and before Jenelle was hooked up to the EEG, Jenelle displayed the behavior that has concerned me, and that I feel may be possible seizures. Both the technician and Brett saw it, for Brett is was the first time to see this. The behavior is like a "startle" reflex, but Jenelle will open her eyes wide and make a funny face... sometimes her arms will jerk out as well. I was thankful the technician saw it, so at least they knew what I was trying to describe. Jenelle did more of these during the exam, and I am thankful that we may have an answer either way about the seizures. During the test they used a strobe light that made her cry, and then tried to get Jenelle to fall asleep. Of course, Jenelle didn't fall asleep, but after a while the technician said she got some good readings and they decided to end the test. They did not say more than that, but Brett noticed many times during the exam the two technicians were pointing to their computer screen and whispering. As soon as we were out of the elevator, Jenelle fell asleep and slept most of the afternoon.

Jenelle now has her two front teeth! The first one cut through on her Daddy's birthday last Monday, and the second just over the weekend. The great thing about this is that during these last few days, Jenelle learned to grab a washcloth placed in her hand, or grab her shirt and chew on it for relief. This is a major milestone in that other than her thumb, Jenelle does not put anything in her mouth, let alone grab foreign objects for any length of time. What a great improvement!

Tuesday, September 02, 2003

Jenelle started Occupational Therapy today. The first meeting was mostly evaluation and the therapist taking notes. This therapy is taking place at Grandma's house since that is the day that Grandma watches the kids. After discussing many things, the therapist said she feels Jenelle may have "sensory defense issues", meaning Jenelle is not grasping objects because she does not like the feel of certain textures.

I laughed because it sounded similar to obsessive compulsive behavior, and she said it could be similar, and if someone in the family was a little obsessive/compulsive, it could be related. Hee hee, for those who know me well, all I can say is "guilty". Heaven forbid Jenelle picks up my strange habit of buying things in pairs at the grocery store, or the "unique" way I eat M&Ms. Anyway... it is encouraging though because she said if this is the problem, it can eventually be corrected with therapy. Great news!