Our angel Audrey was born on March 28, 2003. Everything appeared to be perfect. She weighed 8 lbs 1 oz and was 20 inches long. She had tons of hair. I had a normal pregnancy with the exception of a hospital stay for viral gastroenteritis and dehydration while I was in my 6th month.
About 12 days after she was born, she was having little choking and coughing spells while she slept or while she was eating. We took her to the doctor’s office. He had her admitted right away to make sure she didn’t have a transesophageal fistula or other anomaly with her GI system. The test turned out normal and we left after 2 days with a diagnosis of a cold. We were so thankful that it was nothing serious.
Audrey continued to grow and began to smile and even giggle. On Father’s day, we noticed that she was curling up but she wasn’t crying. We weren’t sure what to think about it. The curling continued but became stronger and she was crying very hard. We thought she was having stomach cramps. We took her to the doctor & he changed her formula. We were still having problems so we called again. They changed her formula again. One evening, while I was holding her, Audrey’s right arm shot straight out and began to tremor along with the right side of her face. We were very nervous. We took her back to the doctor and the testing began.
By the end of the week, Audrey was in the hospital. She was experiencing 10 – 12 clusters of spasms per day which lasted between 10- 20 minutes. We met our neurologist who showed us her MRI films and carefully explained the malformations in her brain – dysgenesis of the corpus callosum, heterotropia, and a parietal cyst. He explained that the curling was actually infantile spasms. She was placed on Phenobarbitol and sent home. It was quite a blow to learn that your previously smiling, happy baby had such a deformity.
Our family physician now thinks that the “cold” when she was 12 days old was the beginning of her seizures
Audrey saw an ophthalmologist who diagnosed her with possible Aicardi syndrome because of the lesions on her eyes. The neurologist was still waiting to diagnose her as some viral studies were yet to come in. Three months after the beginning of the seizures, Audrey was officially diagnosed with Aicardi syndrome.
We have also been to a geneticist who gave us another stiff reality check on the condition and a pediatric neuropthalmologist who said she should have pretty good vision because her lesions are on the outer edge.
We started Topamax a month after her hospitalization. Her seizures decreased to 2-4 times a day and lasted only a couple of minutes. The seizures were much milder than before.
We recently started Vigabatrin. We decided that no seizures were better for her than the other side effects that can happen. We have seen a dramatic change in Audrey. She has been seizure free for over a week and she is now our babbling brook. She rolled over four times in one evening. She is beginning to use her right arm more. We are hopeful that Audrey will smile soon. It has been four long months. We are so excited about the changes in her condition since starting the Vigabatrin. We pray that she will not experience the side effects.
Audrey can hold her head pretty well. She likes to sit in her walker and watch her big sister, Lauren, and our dog. She occasionally will bat at a toy. Audrey has physical therapy and occupational therapy once a week. Audrey is a beautiful girl with big beautiful eyes. She now weighs 19 lbs, 3 oz and is 28 inches long. We are thankful that she is growing just fine. We are hopeful that she will learn to walk and talk. Thanks for letting us share.
09-22-2008
