OUR STORIES

Isabel

The first fifteen months of Isabel’s life were amazing. She had a wonderful personality, was a fantastic sleeper and could light up a room with her smile! March 19, 2011 started out like any normal Saturday. We slept in, did some errands and then I took Isabel and her older brother grocery shopping. We were at the deli counter and I gave both kids a free sample of cheese. We continued through the store and I looked down at Isabel and she was slumped over the grocery cart and completely blue. My first instinct was that she was choking on the cheese so I picked her up and started to hit her on the back. She quickly came to but was very groggy and fell asleep on my shoulder. Thinking that she did probably choke on the cheese and that she was fine, I quickly paid for my groceries and drove the kid’s home. Once we arrived home I took Isabel out of her car seat and stood her up, she immediately fell to the ground. When I picked her up she started to turn blue again so I threw her back into the car and drove to the closet ER (which thankfully is about 3 minutes down the road). When we arrived she was acting fine but they took me very seriously. They started to prep her for a head CT when she had another episode…this time she was hooked up to monitors and we could see that her oxygen saturation dropped into the 30s. Things began to get crazy quickly and she was transport via ambulance to the Children’s Hospital. Once there she had many more episodes even though numerous drugs were getting pushed. Thankfully the seizures were controlled after a few days and we were able to go home.

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This scenario repeated itself many times over the next year. During each of the seizures she stops breathing but thankfully has only required assistance to start breathing once. Her doctors finally asked to do some genetic testing to find the cause of these seizures since all of Isabel’s EEGs are normal. The genetic testing revealed that she has PCDH19, which is a genetic form of epilepsy. We were relieved to finally have an answer but as any parent would be, we were scared of the unknown.

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Since the diagnosis we have been lucky in that Isabel has only had a handful of seizures and none of them have required hospitalization. We are dealing with some aggressive behavior and sleep problems but she still has that fantastic personality and beautiful smile that we know and love!