Elizabeth Halligan

had a great pregnancy and Elizabeth was delivered at 39 weeks via a planned C-section. She is the youngest of our 5 children.
Within the first 24 hours I noticed that she wasn’t opening her right eye. I questioned any and every person that entered my room, from family, nurses, doctors, etc. I received several different answers ranging from maybe she has leftover “gunk” in her eye, to she probably had her hand pressed against her face while she was in the womb. When she started opening her eyes more the first week she was home I realized that her eye wasn’t swollen at all, that it was actually smaller than her left eye. After several doctors appointments and two different ophthalmologist visits we learned that She had lesions on her eyes as well as a coloboma in her smaller eye, she is also legally blind most likely only seeing light and dark. An MRI was scheduled to determine if internally everything was alright. (Elizabeth was about 2 months at this point and developing beautifully. She woke up smiling and babbling. She reached for objects. Listened when spoke to and followed objects. She was holding her head up and just a joy to be around)
Before her MRI we visited with a pediatrician about these strange jerking motions she started having with her left arm. She doesn’t like the sounds of that and schedules an EEG as well. Unfortunately, she was too fussy and moved too much for the EEG and we couldn’t get a good reading from it this day. The initial results of the MRI we got that day were that she had agenesis of the corpus callosum and two small cysts. A second attempt at the EEG had abnormal results, but by this time she was having rhythmatic clusters of jerking in her whole body, so we weren’t surprised. She started Phenobarbital that day and was scheduled to see a pediatric neurologist. We went in for weekly blood draws to check her Phenobarbital levels and were also started on Trileptal. Neither of which touched the seizures that were actually increasing. We traveled to the Children’s Hospital to have a 3rd EEG done while videotaping, she had several seizures and abnormal results again. She had a ton of blood work done, a full body x-ray. All coming back normal, except for some slight narrowing in a small section of her spine and her head is measuring small. After an entire day of testing and waiting and testing, we saw the neurologist and he quietly diagnosed Elizabeth with Aicardi Syndrome. He gave us a pamphlet on rare disorders, a bag of sample pills, (Topamax) with dosing instructions as well as instructions on how to take her off her other two meds, and sent us on our way.
At 3 months Elizabeth changed completely and I realize how powerful this syndrome is. She no longer smiled, coos, chewed on her hands, or noticed anything. Also while weaning off the Phenobarbital, she screamed for a month solid, expect to sleep at night. She lost her appetite and lost weight. It was so horrible, she could not be consoled at all. I felt like a worthless mother, I couldn’t even calm my own baby. One of the worst realizations is that Elizabeth really doesn’t even recognize me. What a prideful thing it is, but I remember with my other children how excited they’d get when I walked into the room and to have them hold their arms out to me and cuddle into me with all their love. I worry that she doesn’t know that she’s loved so much. We also noticed some labored, noisy breathing at this time. We addressed this with 3 different doctors, it wasn’t until I went to a 4th one that he acknowledged it, and sent us to a ear, nose, and throat specialist. He diagnosed her with reflux, and prescribed Zantac. Which had no effect on the loud breathing. We tried Prevacid, which also did not help. She still has very loud breathing and after more x-rays and being “scoped”, they still can’t be sure what’s causing it.
When Elizabeth was 4 months old we saw a geneticist and I held my breath with all hopes that the last diagnosis was incorrect, but he agreed with the pediatric neurologist.
When she was almost 5 months old she started therapy through our Early Childhood Intervention program. It was the best thing I could do for both of us. The people there are so amazing and in a short amount of time I considered them our friends. Progress is very slow.
At nine months Elizabeth had a feed and swallow study done and it was determined that she was regurgitating her liquids into her nasal cavities, which in turn caused sinus infections. We were instructed to take her off all thin liquids. She used to be able to eat pureed food and soft foods such as pudding by spoon, but no longer is interested and becomes angry when we try to offer her food by spoon. Her diet consists of vanilla Pediasure with fiber, she is able to drink from a bottle still, although she goes through spells where she seems to forget how.
Elizabeth’s fourth medication to control her infantile spasms was Zonegran as well as B-6. She seemed to have days where she had less seizures. (anywhere from 10-20 clusters a day) The fifth medication we tried was Felbatol. After a high liver enzyme count at her bi-weekly blood draw we weaned her off that med and decided to not try any more for a while due to the extremely difficult time we had weaning her off meds and the endless crying withdrawing from the drugs…as well as the fact that none of them have helped with seizure control… After a few months, (she is close to a year at this point) her seizures decrease on their own.
At 3 we decided to try yet another anticonvulsant, Lamotrigine. Unfortunately this was not the “magic” one either and have gone back to being med free. She currently will go through spurts with the clusters. Some days she may have 1-5. Then she might go days, even a month at a time without having a single one. She is a puzzle!
Elizabeth has transitioned into the 3 year old program through our Early Childhood program, but will continue to receive all her therapy at home due to her fragile immune system. She receives all the services minus the hearing impaired. She still functions at the age of a 2 month old and has very little progress. Even though there are so many things she is unable to do, there are things that she seems to enjoy…. She loves cuddling with her daddy & puppy, (Tinker). She likes to sit on the porch swing on a warm day, especially if there’s a small breeze. She really likes to lay under the Christmas tree with all the lights! Elizabeth loves cotton candy melting in her mouth and can really smack her lips! She likes listening to all different types of music with mommy, but not if mom starts singing along?! She is a sweetheart and if you get a rare smile from her, it will melt you heart!