Brianna is a beautiful 13 year old young lady and the light of our lives. She has overcome many obstacles with a lot of hard work and the strength of a true fighter, even though she has had multiple seizures a day, almost every day of her life since she was 2 months old.
She was diagnosed with Aicardi Syndrome at 2 months old when she had her first seizures. We knew at birth that there was something wrong. She spent the first 6 days of her life in the PICU at All Children’s Hospital. At that time they found that she had severe abnormalities in her brain, which included Agenesis of the Corpse Callosum (ACC), which means that she is missing the nervous system that connects the two halves of the brain. The ventricles in her brain were also very abnormal and she had cysts inside of them. At that time they sent us home and told us to take her home and enjoy her, and that she may be delayed, but not to worry too much. For two months we thought everything was going well. She was meeting milestones early, strong trunk muscles, following lights, interacting with us and her environment.
At two months old our lives changed forever, as she had her first seizures (Infantile Spasms) . As soon as she would recover from one, she was having another and another and another. My mom recorded it and we took her straight back to ACH where she was admitted for the next 4 days. They ran more tests and the news was devastating!! They found Lacuna in her retinas, which are spots in her eyes that didn’t develop. With these three markers being found, (ACC, Seizure, and Lacuna) the Doctor came to me with the diagnosis of Aicardi Syndrome. He told me that she would never walk or talk, that she would probably be blind, and her life expectancy was 10 to 15 years. and that she would be profoundly mentally and physically impaired. He told me that it was very rare, at that time he said that there were probably only 500 cases in the world and that it was only in girls. I felt like someone had kicked me in my stomach. I thank God that my friend just happened to be there with me, as I almost hit the ground as the Doctor left the room. That was the day my entire world changed.
My Beautiful Baby Girl became a drug addict that day. She took her first benzodiazepine, Clonazepam, which was what the Doctor put her on when I asked for the seizure meds that had the least amount of side effects, till I could go home and do more research.Over the next 8 month my daughter lost all of her skills and regressed to the point that all she did was sleep and I had the wake her to eat, she lost her ability to suck and she could no longer breast feed. It took me about 1 1⁄2 hrs. to syringe feed her one bottle. I fought with everything I had to keep her from getting a g-tube. She could no longer grasp a toy, or bring her hands to her mouth. At 10 months I decide in desperation to try a non-FDA drug I was hearing about, Sabril, which I had to buy from outside of the USA, they said it could take her peripheral vision. I thought to myself, I would rather her be blind and happy, than laying there watching the world pass her by. So I started her on this new med at 10 months old, and started weaning the Benzo. I began to meet my beautiful daughter within the next two months after a horrible detox from a terrible drug. Even though she was having 0 to 3 seizures a day, she began to blossom. She sat up with support at 12 months old, rolled over at 18 months, crawled at 20, and walked at 22 months. After being on the Sabril for about four years, we decided that with her progress in development, that it was no longer worth the risk of her eye sight. So we started our long journey of trying every cocktail out there, some worked better than others, some made the seizures worse, all of them have horrible side effects that have ravaged her body and mind in the pursuit to stop or at least minimize her seizures. None have stopped them. She also has a Vagal Nerve Stimulator (VNS) implanted in her chest; this is connected to the vagal nerve that goes to the center of her brain. She is on a rapid cycle and gets electrical impulses to her brain every so many second, 24 hours a day. When she has an active seizure we swipe a magnet over her stimulator and it sends a higher electrical impulses to her brain for 60 seconds in hopes of stopping it or slowing it down.
Because of the seizure medication, Brianna has become a very unhappy kid with lots of rage, a far cry from the happy girl we knew so well, I have tried her on numerous behavior meds and they have either not worked at all or made the behavior worse. We are out of options and I am no longer willing to subject her to more FDA approved drugs that are stealing her joy. I will do what I have to, in order to give her a better life, but I don’t see how splitting up our family to access a drug that has less side effects than any AED (Anti-Epileptic Drug) on the market, could truly give her a better life. But, if it means she could live a better quality of life I will do whatever any mother would do to save her child’s life. With every day that goes by, I fear more and more about which one will be the one that take her from me. When your child is mentally impaired, can walk, and has Tonic/Clonic (Grand Mal) seizures every day. It is like walking around with a ticking time bomb in your hand every day, waiting for it to go off. Not just wondering when it will go off, but knowing that it will, and if you will be there to save them or at least be there to comfort them in the final moments here on earth.