The story of Karen
My daughter was born in March of 1998 and was delivered having a seizure. The first diagnosis she received was Epilepsy at 1 month of age. Over the next year, her seizures increased and her development decreased. Over the next several years Lily underwent numerous tests to determine the cause of her seizures and numerous treatments to stop the seizures. At a year and a half she got a G tube for her feedings and meds, because when her seizures amped up she no longer functioned and couldn’t take things by mouth. She never learned to talk, sit, or crawl and when she got her first wheelchair, we realized our lives were going to be much different than what we had planned.
At approximately 4 years of age she received a diagnosis of a Complex 4 mitochodrial disorder. We thought we finally had an answer. For the next 9 years we worked to find a treatment for her seizures which included a vagus nerve stimulator, the ketogenic diet, and pretty much every seizure med out there. Lily’s seizures did stabalize for a brief period of time and then they started up again and we took a trip to the Cleveland Clinic to see a doctor who specialized in mitochondrial disorders. He took one look at Lily and listened to what we had to say and said he didn’t feel like she had a mitochondrial disorder. Then we started genetic testing all over. Initial tests did not show anything, and then in 2013 the doctor ordered whole exome testing which had just become available and low and behold we got an answer. Lily was diagnosed with SCN8A gene mutation.
We now truly have an answer and it has been life changing. Not specifically for treatments, because there is so much that is not known about this disorder, but because we found a support group for families dealing with this disorder, and now have others who understand what we are going through. It has also led me to change the focus of my life, from nursing to becoming a volunteer with The Cute Syndrome Foundation, helping other families, and working towards finding treatments for those affected.
Lily’s health has taken a downward spiral these last couple of years and we have come close to losing her several times. We continue to fight every day to control her seizures and give her the best quality of life. We are hoping to see a treatment for SCN8A sometime in the near future, but in the meantime, we just live life to the fullest and enjoy the days she gives us smiles.