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.

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!

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!

I spoke with Dr. Phillips today and he informed me that Jenelle's recent test results were normal. The tests included a study for metabolic disorders, a test for a chromosomal disorder called Praeder Willi Syndrome and a panel on her chromosomes for any abnormalities. Jenelle's chromosomes are a "46XX", which is normal for a female (would be XY if she was a boy! ;) This is really great news, we are so thankful, and yet, still no answers.

Also, on this day I scheduled Jenelle's ABR hearing exam for November 21, 2003. The hearing exam must be done while Jenelle is sedated, so again, like the MRI, there is a long wait. I spoke with the Audiologist yesterday, and she said we would have the results immediately after the exam, so that is encouraging.

They say to have a child with a disability is like going through the grieving process, because you "mourn the loss of the perfect child." Prior to getting the DNA test results, I really started to experience these emotions. Simple, everyday things like going to Babies R Us for formula, or going grocery shopping are a constant reminder that our 10 month old is not like other babies her age. I see parents with children "sitting" in the carts, pulling their parents hair, or tugging their arms, or pulling boxes off shelves - it is very depressing. For me personally during this time, I could be fine one minute, then crying the next. I will be happy while grocery shopping, and in tears when they ask if I want to "donate a dollar to Jerry's kids". It truly is a humbling experience. The news of the normal results is a great relief, but still we have a lot of questions. On a personal level for me, I have started to refer to Jenelle as a "special needs" child, which I feel may be a good sign that I'm learning to accept this challenge in life.

Just prior to Jenelle's well baby visit, I spoke with another Mom from our daycare who is a speech therapist. She asked me if Jenelle was having seizures, and I answered quickly, "No". She then asked, "Do you know what an infant seizure looks like?"... "Uh, no!" She suggested that I call Dr. Phillip's office and ask them for things to look for in an infant seizure. I made the call, and they provided me with lots of information, and suggested I keep a diary of Jenelle's behavior for the doctor to review at our next visit. Sometimes you can find a pattern. I learned that an infant seizure is not what we typically think of in a seizure, like a Grand Mal seizure in an adult. An infant seizure can be very subtle, and sometimes can only be detected by a stare or sudden widening of the eyes. Some infant seizures can have a jerk or two, like they are off balance, or can even be a change in breathing. A child usually does not have a full Grand Mal seizure until they are a little older.

Over the next few days, I started to notice some of this behavior in Jenelle, especially during meals and in the mornings. I mentioned this behavior to Dr. Patel at her well baby visit, and she told me to ask Dr. Phillips for an EEG exam (I don't know the technical word for it, but it is an exam that monitors the brain waves for seizure activity.) That night, I emailed Dr. Phillips with a description of some of the behavior I saw in Jenelle, and he responded quickly that he wanted to order an EEG, and he thought it was a good thing to explore. He also suggested we try to video tape some of this behavior.

Whether or not Jenelle is having seizures, we are not sure, but hopefully this test will give us some answers one way or the other. So, once again, on to the insurance authorization waiting game!

Jenelle saw Dr. Patel today for her 9 month well baby check up. We just love Dr. Patel, because she has been so concerned, and so involved in helping us with Jenelle's issues. Jenelle is weighing in at 22 pounds, and 29 inches - still in the 90th percentile for her age, which is great!

Dr. Patel is putting in for 3 referrals for Jenelle. I told her about the Occupational Therapy evaluation and their concern with Jenelle's tongue tie. We are being referred to a surgeon so Jenelle can get the tongue tie clipped. Not sure what that involves, but I hear its very easy to do. Jenelle is also getting a referral to an audiologist for a hearing test as requested by OT as well. And the final referral for Jenelle is to a physical therapist named Tim Healey. We were given his name by a friend and Dr. Patel had nothing but great things to say about him. She felt if he was covered by the insurance, it would be worth a consultation. Dr. Patel was concerned that Jenelle was only getting an hour of Physical Therapy a week and felt she needed at least 2 hours, but perhaps when the OT kicks in, that will make a difference.

Many of you have suggested we check out Jenelle's immunizations - there have been reports that immunizations can cause some of the delays Jenelle is having. Without getting too technical, Dr. Patel assured us that her office has been using the proper immunizations for over a year, so Jenelle would not have been affected by the immunization mixture (thimizerol) causing these delays. Dr. Patel said that in an infant with development delays, the immunizations are more important in order to build up her immune system. There are some concerns with giving the MMR (measles, mumps and ruebella) shot to infants with development delays, and Dr. Patel felt that when Jenelle needs her MMR (at her 12 month visit) it may be wise and safe to public services to have it done as they can give Jenelle the MMR in a separate form, spaced out on her body rather than all at once in one location. Yes, technical sounding I know, but it does makes sense to me. Brett actually started laughing because Dr. Patel and I understood each other, and he said he didn't know what we were talking about! ;)

So, Jenelle is doing well. She is not too big for her age, and she is showing some improvement, which is hopeful. Please continue to keep us in your thoughts and prayers. That means so much to us right now.

Jenelle had her initial occupational therapy (OT) evaluation today with two therapist from The Children's Therapy Center. This evaluation was done so we could get authorization from Regional Center to start Jenelle on OT in addition to her Physical Therapy. OT is therapy for "fine" motor skills.

I'm so ashamed of myself. They asked me to fill out some paperwork, and here I am all ready to write down everything Jenelle "isn't" doing, and the first question on the form was "What are you child's strengths and qualities?" ... WOW, I guess I haven't been thinking in that perspective! It took a long time to think about it, but Jenelle does have strengths and qualities. She is an easy baby, sleeps well, adapts to any environment, and is improving with her physical therapy. She can suck her thumb with the best thumb suckers and is generally a very happy, content baby. And, she is very beautiful, though I'm sure I'm very biased.

Getting back to the evaluation - Jenelle qualifies for OT, not a big surprise there. One of the new things we discovered is that Jenelle has a very thick tongue, and very tight cheek muscles. This is not only going to cause a speech delay, but will inhibit her eating ability. They asked me to spoon feed Jenelle and watched her eat. She eats by using her tongue mostly, and does not use the chewing motions that most babies her age are learning. Jenelle has always been "tongue tied" (where the bottom part of the tongue is fully attached to the bottom of the mouth) and our pediatrician has been against having it cut. They recommended Jenelle have it cut as the tongue tie will only inhibit her ability to progress. Her 9 month well baby check is coming up, so we'll mention it at that time.

Oh yes, and the really great news to report is that Jenelle is finally rolling! She discovered and mastered the ability to roll from her tummy to her back, and sometimes rolls all the way across the room, only stopping when she gets caught on the corner of the couch or TV. I think she is enjoying this as a way to explore and discover her world. Brett and I have noticed that Jenelle's delays have been consistently 4 months behind the time when Jack started doing these things. We can only hope that pattern continues. She has also started to "swim around" on her tummy in an effort of what looks like the beginning stages of crawling. I'm sure that is a ways away, but its great to see such improvement. Physical Therapy is most likely the cause of this great improvement!