On January 7, 2008, we arrived at Woman's Hospital in Baton Rouge for a scheduled c-section. I was filled with mixed emotions. Mary Katherine Crawford was born that day, and she was gorgeous. We loved her through our confusion.
We knew that she had agenesis of he corpus callosum and a choroid plexus cyst.
After having felt what I though might be hiccups on the second day of being home from the hospital, there was another incident a few weeks later. I had placed Kate in her infant bouncer seat. She began repetitive jerking again seemingly from her torso, but it again resolved in hiccups. We had also noticed that she sort of had a bit of nystagmus going on here and there. And she had a right-side gaze preference that was undeniable.
I happily brought Kate to her 8 week old pediatrician visit. I mentioned the hiccup incidences. He said it indeed sounded like it was hiccups. We immunized her, and she had normal development for her age at that time, though a tad on the weak side of normal. Off we went.
At 10 weeks, I was at my sister's house with Kate. I had just fed her when she began jerking again from her torso, but all of a sudden her left arm went straight up in the air each time, her right leg was stiffening each time, and her eyes were hard-cranked over to the right side as far as they could go. There was no denying that something was wrong. I asked my sister as I held my baby away from my body, "What's she doing?" My sister said she didn't know but that her husband had seen her doing that a little earlier during our visit.
The pediatrician advised us to keep our camcorder closeby and try to capture the baby doing this thing again on video, whatever it was. He also told us that if they are seizures, that they can't really hurt her, just try to get it on video and meet back in a couple of weeks.
We walked around videotaping Kate having long bouts of holding a static position while repetitively jerking many times over the next couple of weeks. We brought the video to our next appointment. I casually began the recordings to show the doctor. He observed the video without much reaction. He left the examining room immediately, and set everything up for us to be admitted to the hospital right away. I can't say I was entirely surprised. Frankly, I think I was relieved.
An EEG confirmed the seizures, and Kate was started on a drug called keppra, which helped her almost immediately. She had been having these seizures so often by the time we went to the hospital, they were coming several times an hour. After starting keppra, all we had were short clusters of mini-seizures that lasted a total of five minutes or less. We thought this was Keppra making her seizures milder and that this was a good thing. The nurses documented these clusters of short seizures, but we did not call a doctor about them because our instructions were to notify the doctor if any one seizure lasted longer than five minutes. Each "mini-seizure" only lasted a moment, so...we went home with Kate on Keppra.
A week later, we followed up with her neurologist. I had taken some extra video of Kate's "mini-seizures" to show the neurologist after being discharged from the hospital. I just knew it might be important. Can you believe, we were re-admitted to the hospital once she saw that video!
Another EEG revealed a modified version of an abnormal brainwave pattern possibly associated with a certain type of seizure called an "infantile spasm". Our neurologist insisted that we see a pediatric opthalmologist almost immediately. I thought that the EEG must not have been giving our doctor all the information she needed to determine if Kate was having infantile spasms and that somehow an eye exam would help confirm this! (Looking back, I have to laugh a little.)
After the eye exam, I hadn't gotten 10 minutes away from the opthalmologist's office when Kate's neurologist called me on my cell phone and asked if I could come straight to her office that very minute.
On April 18, 2008, while sitting with Kate in the neurologist's office, I heard the words "Aicardi Syndrome" for the very first time.
I called my husband at work on his cell phone once I was wheeling Kate through the parking lot in the bright sun of Louisiana in April. I told him what I had learned and he left to meet me at home. Within 2 days, our first delivery of a drug called ACTH arrived at our doorstep.
Thank God we attended the Aicardi Syndrome Family Conference in Chicago shortly thereafter. It was overwhelming, but it forced us to open our eyes widely and peer into a future we had never imagined. It was like this parallel universe that always existed was now becoming our reality. We made some new friends who were all so very gracious, and began to become a tiny bit more comfortable with this whole thing.
Once back home in Baton Rouge, we were anxious to find a way to change Kate's medicine from ACTH to a drug we learned about at the conference, called Vigabatrin. Kate was never seizure free on the ACTH/Keppra combo, and her health was suffering because of having been on ACTH for over 100 days by the end of the summer.
And the weaning process from ACTH began.
It has now been almost 18 months since Kate began Vigabatrin. She also remains on Keppra and has begun the ketogenic diet. She has had 0 to 2 clusters of infantile spasms daily on this drug combination, and since beginning the ketogenic diet, her seizures are down to 1 to 2 per week. Whenever she has fever, her seizures are worse. But, usually, they do not bother her, and she is a charming, snuggle bug.
She smiles, lights up when she sees us, plays with toys while sitting with assistance, can roll from her tummy to back, and loves to jump in her rainforest jumper, listening to music, bouncing and twirling to her hearts delight. She vocalizes quite a bit, but cannot speak words. She receives 14 hours of therapy per month. She has a walker and a fancy bath chair. We are eagerly awaiting approval for her sleep safe bed.
I find her absolutely intoxicating, and so does anyone else who has the blessing of being involved in her life. I thank God for her every day, and can't imagine her any other way.
Kate is 2 years old at the time of this writing, and we have two other children. We are so happy to grow our family and to share ours with you. Thank you for sharing yours with us.
October 7, 2010
This summer was tough for Kate and the whole family. She was not eating enough, and since she has been on ketogenic diet to help control her seizures since January 2010, she was becoming acidotic very easily - slipping past ketosis into acidosis. After several hospitalizations to rehydrate her and watch her for several days and get her healthy, all the experts agreed that a mic-key button/gtube would be the right thing to do. It wasn't just because of the acidosis resulting form her refusal to eat. She was refluxing a lot and that brought a high risk of aspiration. After much deliberation, we decided that a nissen at the same time as the gtube would probably be for the best. She was refluxing so much of what she did eat, and that often meant medicine too. Then we were always worried about how much she was able to keep down, and couldn't tell whether to give her more or not.
I was so nervous for our sweetie, but now on the other side of the surgery, I am so relieved. Life is better for her, and for us. No hospitalizations since then, and though she continues to lose weight for some unknown reason, we are working on increasing her calories to help her regain her strength. At the time of this writing, kate is almost 3 years old and weighs only 21.6 pounds. She is small, but hopefully will be putting on some weight soon.
Kate's new favorite thing to do is dance. She loves music so much, and she becomes downright giddy when we hold her and bounce her to the rhythm. That is her "dancing". It is exhausting for us after a while, but worth every minute. Its gotten to where we hate to stop because we don't like to disappoint her! Her favorite music is by the Grateful Dead. But her very favorite song by far is "Gin and Juice" by the Gourds. It makes her so happy!
She continues to attend daycare with her brother and sister. In fact, her sister, Lily just got moved into Kate's classroom, so they are together all day everyday. Lily is going to be a year old next week, and she already takes care of her "baby" kate. She helps me to push her in the stroller, and she puts a pacifier in kate's mouth. They hold hands in the car because their car seats are next to each other. Jack adores her too, and always makes sure to include her and said the other day, "when me and kate and lily grow up and we get married we are going to live in this house with you, mommy and daddy." He is just now 4 years old. So sweet.
10-22-2010
