Mary Kate Crawford

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 Mary 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 Mary 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 Mary 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 Mary 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, I followed up with her neurologist. I had taken some extra video of Mary 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”. The 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 Mary 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 Mary 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 Mary Kate in the neurologist’s office, I heard the words “Aicardi Syndrome” for the very first time.

I called my husband once I was wheeling Kate through the parking lot in the bright sun of Louisiana in April. He met me at home as soon as he could. 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 Mary Kate’s medicine from ACTH to a drug we learned about at the conference, called Vigabatrin. Mary 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.

In August of 2008, I brought Mary Kate to a new neurologist at Texas Children’s Hosptial who was willing to prescribe vigabatrin. The weaning process from ACTH began.

March 2010

Ketogenic Diet
It has now been almost 18 months since Mary Kate began Vigabatrin on September 6, 2008. She also remains on Keppra and began the ketogenic diet on January 11, 2010, right after her 2nd birthday! Now 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. Through the Early Steps program, 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.

October 7, 2010

This summer was tough for mary Kate and the whole family. She was not eating enough, and since she has been on ketogenic diet, 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 from 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 her medicine, too, of course, so there was no way to really know how much she was getting. There was no way to know 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, Mary Kate is almost 3 years old and weighs only 21.6 pounds. She is small, but hopefully will be putting on some weight soon.

She continues to attend daycare with her brother and sister. In fact, her sister, Lily just got moved into Mary 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” Mary Kate. She helps me to push her in the stroller, and she puts a pacifier in Mary 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.

February 2012

Since my last writing, Mary Kate aged out of the Early Steps program at her 3rd birthday in January of 2011. In April of 2011,at 3 years old, Mary Kate began to feed herself her own bottles. In May, a new MRI was done, and in June an EEG. Also, in June of 2011, she began the weaning process from the ketogenic diet. At that time, it was deemed to have failed her because she did not become seizure-free, and her cholesterol levels were too high. But the MRI report says that a partial corpus callosum is visible. Is this a miracle or was it just that she was so small as a newborn they couldn’t see any at all because she was complete agenesis. I still do not have an answer to that. We lsot her neurologist to NYU, but have continued on with the nurse practitioner at TCH and have a local neuro who saw her as an infant back on the case. She will hopefully review the MRI findings soon and we’ll know what the situation is.

The summer was filled with screenings and evaulations and meetings. When school began in August, Mary Kate was right where she needed to be. Her teacher and therapists are amazing. Mary Kate is thriving in their care. She has begun eating soft solids from a spoon. She can now sit unsupported for up to about 20 minutes! She is much better oriented and can communicate very well without official language.

She has recently begun taking Onfi along with her Keppra and so far so good. A few absent seizures have bcome her new favorite, but in 2 weeks I have only seen them about 5 times.