OUR STORIES

My name is Alison and I’m mom to Siena and Lily, two precious girls living with PCDH19. 

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Siena is now 6, and when she was born we had no indication that she was anything other than a happy, healthy baby girl. We had a son soon after, and when Siena was 20 months old everything changed. She woke up one morning vomiting and then had a seizure that wouldn’t stop. We called an ambulance and she was in and out of seizures all day. We were devastated, and felt totally helpless and confused by what was happening.

 

We were in and out of the hospital for those first three weeks, and on the second visit they diagnosed her with epilepsy. We tried to find a medication (or combo) that worked to stop her seizures, and thanks to God we were able to. We wondered what caused her epilepsy, but we were handling it day by day and did not dig deep for answers at that point. 

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Fast forward a couple more years, and we had our third baby, Lily. Just like Siena, she was healthy, no pregnancy complications, no reason for us to worry. But at 6 months old she turned blue while napping in my arms and woke up gasping, as if she was choking. It lasted only seconds, and we thought maybe she had choked on some milk, but when it happened again a few minutes later we called 911. My heart sank as I realized something was very wrong with our baby girl. They looked different than Siena’s, but I recognized at the time that these were seizures. 

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Lily was inpatient for about a week that first visit, and experienced status ellipticus within the first 24 hours. I woke up in the middle of the night to see her little hospital bed surrounded by nurses and doctors, one of them manually helping her breath because her breathing had stopped. If we had not been in the safety and security of the hospital that night, she would not be with us today. This realization hit much later and still takes my breath away.

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We knew we were dealing with another case of epilepsy, but were so confused as to how it could be. Neither my husband nor I have epilepsy, and no one in our immediate families did either.

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After hearing about our older daughter with epilepsy, one of the doctors at Rady’s Children’s Hospital suggested genetic testing. After Lily’s discharge we got the news that they had found something - PCDH19. Siena was tested as well and PCDH19 was confirmed for her too.

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Our appointment with the genetic counselor was both comforting (we had an answer) and sobering (what did the diagnosis mean?) I was told this was a rare disease, and little was known about it. I asked how rare, how many people in the U.S. had it? I was told just a few, which turned out not to be correct. There was just not much known about it at the time. 

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I’d have to say the most devastating news to hear was that the girls have a 50% chance to pass this on to their children. This news made me cry the hardest, knowing that one day the girls may have to go through not only having the disease, but loving someone with it as well. 

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Lily’s case turns out to be more severe than Siena’s. Her symptoms began earlier in life, and she still has seizures every 3-5 months. Best case scenario, her neurologist advises us to adjust a medication and the clusters stop. Worst case, the clusters continue or she has an extended seizure and we call 911 after a dose of diastat. Lily also has speech delay, and we are currently navigating the world of early education intervention.

We’ve recently added cbd oil to her regimen and I see an improvement in her overall mood and her tics have stopped. She just started in January so it’s really early to say, but there have been no seizures since then.

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Siena has been seizure free for many years now, and is an enthusiastic student at school. She loves to read, enjoys doing crafts, and has shown an interest in math this year.

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For now, this is just our life. I love my girls, and wouldn’t trade them for anything. But this is hard, really hard. And it’s nice to know there is an alliance that is fighting every day to find out more about this disease, and to hopefully, one day, find a cure.