Gillian’s Story

Our beautiful baby girl Gillian entered into our lives on December 29, 2008. Although she was initially quiet, her newborn cry soon filled the air. We were overcome with joy and love and eager to take her home to meet her big brother. At home friends and family dropped by as we celebrated the end of a very happy year. Our lives forever changed on the morning of January 1st when we realized something was wrong. Gillian was making odd movements, her body was stiffening, her head turned to the side, and her eyes deviated followed by a loud pitch cry and rapid heart rate. A trip to our local children’s clinic confirmed she was having seizures. We took her to the Hospital for Sick Children in Toronto. While in triage, Gillian had another seizure and was immediately admitted and taken for testing. Blood tests, a spinal tap, CAT scan and a MRI all followed. With the exception of her EEG, which showed abnormal brain activity, all tests were negative. Gillian was admitted to the hospital and over the next 28 days she continued to have seizures. Gillian had her last seizure in hospital on the day we brought her home.

Over the next few years we parented Gillian without a diagnosis. Although Gillian’s future was uncertain we were determined to make her everyday life a happy one. With the help of her therapists Gillian began to make slow progress. She eventually learned to walk at age two. In the spring of 2011, at the age of 3½, Gillian was finally weaned off her last anti epileptic. This was an exciting and terrifying time as Genetic testing continued to produce negative results. It was not until a year later on request by her neurologist for one more genetic test that we received a positive diagnosis for a mutation on her KCNQ2 gene. At the time of Gillian’s diagnosis there were only 30 other documented cases of KCNQ2. With so little information available doctors could not tell us anything new about Gillian’s future. We began to search online and slowly discovered other families.

It has been nearly 3 years since Gillian’s diagnosis and we have gained a tremendous amount of knowledge about her disability. Our small community continues to grow and there are now over 200 diagnosed cases worldwide. We feel very fortunate to have been able to meet some of these families and their incredible children. Today at the age of seven Gillian is an active and happy girl with a slightly mischievous side. She is in the second grade and doing very well in school. She loves listening to music and dancing. She enjoys swimming and gymnastics, especially jumping on the trampoline. Although she is nonverbal her receptive communication is fairly good and she is able to understand some of what we say. Her expressive language is coming along and we have begun using an iPad to help her communicate. Gillian is a very loving little girl and especially loves her big brother. Her determination and hard work continues to amaze us. We still don’t know what the future holds but thanks to our KCNQ2 families we know we won’t be facing it alone.