Sloan’s first seizure occurred when she was 8 months old. On November 27, 2013, she was sleeping in bed beside me and, at 6:27 a.m., I was awakened by her having a tonic clonic seizure. I called 911 and emergency response suggested we take her to Arkansas Children’s Hospital. I drove her to the hospital where she had two more seizures while in the emergency room. During that visit, she had a CT scan, a lumbar puncture, and an EEG. All of these tests were normal. Sloan was kept overnight and sent home the next morning (Thanksgiving) on medication.
The following Sunday at 6:17 a.m., Sloan had another tonic clonic seizure while sleeping beside me. Over the next several hours, she had many more seizures at home until we decided to take her back to ACH. Once we arrived at the hospital, it was as if a bomb went off in her brain. She continued to have seizures and the different medications given her did not work to stop the cluster of seizures. With every seizure, she turned blue and her oxygen saturation dropped dangerously low requiring her to be bagged with oxygen. She had an MRI and was placed on a video EEG for 5 straight days. The results of the MRI were normal, but 5 medications had failed to stop the cluster. The neurologist, who is the department Chief of Staff, told us that he was very concerned for Sloan.
Mid-week, it was decided that she would get Intravenous Immunoglobulin (IVIG) because we had “nothing to lose”. She got 2 doses of IVIG and the seizure cluster slowly stopped. Sloan went home on 3 medications and 1 supplement which we weaned down to 1 medication over the next 14 months. We thought the seizures were a fluke. We thought she had an infection which caused the seizures and, as months rolled on, became more and more sure that she would never have another. After being seizure free for 14 months, Sloan had a single seizure while at daycare and 7 days later her 2nd cluster began. She was admitted to the PICU for 8 days and it was during this hospital stay that genetics testing was done.
On March 30, 2015, our worlds were turned upside down. I received a phone call from Sloan’s neurologist that her epilepsy panel revealed she has a mutation of the PCDH19 gene. He went on to tell me that not much is known about the condition and that he had ordered research literature in order to learn about it. My husband and I found the PCDH19 Alliance that day and slowly began researching the disease. Our hearts broke a little with each new bit of information we learned. That day we read that, aside from seizures, Sloan is also at high risk for autism, developmental delay, and intellectual disability. We learned that behavioral and mental health problems were issues she may face. Above all, we realized that these seizures were likely not going away and we were going to have to adapt. She no longer sleeps alone. She is not allowed to climb stairs on her own for fear she will seize and fall down them. She will not be allowed to go in a body of water, even a bathtub, unsupervised. She will likely have to take many mind-altering meds for the rest of her life.
Perhaps the hardest thing of all is the knowledge that she can pass this mutation to her children and will one day have to make the decision as to whether or not she will have children of her own. Since discovering she has this disease, Sloan has had many more seizures, takes several more medications, and has had several more hospital stays. Despite it all, she bounces back after every seizure cluster and continues to meet her developmental milestones. She surprises us with new skills every day and is the sweetest, funniest, spunkiest little girl our family could have been blessed to have.