Eliza was born safe and healthy on June 10, 2014 and came home a couple days later to meet her older sister and brother. However, within a month we started to have some concerns about her vision and some twitches she was having. Over the next 2 months the “twitches” changed into full body jerks and we were waiting on a referral to a paediatrician, but we never made it that long. The day after Eliza turned 3 months old she was rushed to London Children’s Hospital with what was clearly seizure activity occurring every 1-2 hours. Over the next couple days we learned that the full body jerks she had been having were called jackknife seizures, which belong to a larger type of seizure called Infantile Spasms. The results of an MRI, combined with our concerns regarding her vision, lead to a diagnosis of Aicardi Syndrome. Aicardi Syndrome is a rare genetic condition occurring in girls which affects the brain and eyes, resulting in difficult to treat seizures. The MRI showed a long list of physical abnormalities with her brain, which was the cause of her seizures. We were told that the best development that we could hope for was the development of a one year old. She might sit, she might crawl, she might say one or two words, but these milestones would take years to achieve and she would always be dependent on a caregiver. She would never be able to have the things you would normally expect out of life (job, spouse, etc). They would not give us any estimate on life expectancy, as
there are too many variables, but the Aicardi Syndrome Foundation puts median life expectancy in the 30’s. Eliza spent the next 6 weeks in the hospital trying numerous medications to try and get the seizures under control. Because of the sedating effects of the anti-epileptic medications and the exhaustion from having multiple seizures every day, she lost her ability to eat safely and an NG tube was placed. When we were finally ready to leave the hospital, she was on 4 anti-epileptic medications and had started a special diet as a seizure treatment called a ketogentic diet, but was still having an average of 11 seizure clusters a day and was dependent on the NG tube.
Over the next year we were able to reduce her seizures to an average of 3 clusters a day thanks to the diet and some modifications to her medications. She had frequent hospitalizations due to respiratory problems and the NG tube was replaced with a G tube as a more long term feeding option. She started receiving physiotherapy, occupational therapy, and vision therapy as we learned that her vision was very poor. Later on speech therapy was added as she was non-verbal. That year brought huge changes to our lives. Eliza’s low muscle tone meant that she still could not hold up her head, or support herself in a sitting position, and had little control over her arms and legs. It also made her more susceptible to respiratory problems. This lead to a wheel chair and other pieces of equipment becoming essential parts of our lives. The various hospitalizations, appointments, and therapies took up a lot of time and forced our family to really work together as a team. Our older kids quickly became used to tagging along to therapy and doctor appointments, visiting their mom and sister on weekends during hospital admissions, and learning how to help care for their sister. Dad quickly got used to packing lunches, checking homework, keeping the house in order, and putting ballet buns in his older daughter’s hair, while still working full time. Mom learned how to manage her daughters care team, keep track of appointments, prescriptions, medical supply orders, application forms, seizure diaries, medication and feeding routines and training other care givers in preparation to return to work part-time.
Eliza is now 4 years old. She has had only two hospital stays in the last 3 years and her health is steadily improving every year. She will always be fully dependent on a caregiver, but is slowly developing skills like using a communication device, and gaining better control over her right hand. She will be joining her siblings at school in September and we expect her to really enjoy that experience. She loves being part of a group of kids, with all the noise and activity, and all the attention her cool equipment and toys bring. Her siblings, cousins, and friends at her daycare all love to help her by taking her for walks, bringing her toys, playing music for her and complimenting her outfits and hairstyles. Our community has been an essential part of our support system. They have supported us though fundraisers, meals, and by loving and accepting Eliza exactly the way she is, just as they do for any other kid. Eliza has taught us all what it means to love unconditionally. Our focus for Eliza’s life has been to provide the best quality of life possible, given her limitations. We haven’t yet decided on how we will use Eliza’s wish fund, but it will be an essential part of providing the best quality of life we can for her.