OUR STORIES

Beatrice: derived from the Latin, meaning “voyager or traveler through life”, and again, Beatrice from the Latin to the popular Christian usage: meaning “blessed one or bringer of blessings”. When we chose this name 3 years ago for our little girl, we could not see what incredible and unique blessings this soul would bring to our family, as she traveled through our lives.

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Beatrice was 11 months old and beaming with that baby joy as she stumbled, tumbled and wobbled out her first steps! She was happy, healthy and exuberantly adored by her 6 siblings. Already, her 1st birthday plans were being discussed and anticipated, but those plans were quickly put on hold.

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With her first steps, came her first cold, which we didn’t pay much attention to, since she continued to smile through the drippy nose and all. So feeling secure she was enduring her first sniffles well enough, I left her in the care of one of her siblings, while I went out. On my return, my daughter told me all had gone well, but Beatrice had been acting “funny”. What my 10 year old daughter described as “funny”, sounded bizarre to me, and I couldn’t say for sure what had gone on, but seeing that Beatrice seemed fine now, though a little sleepy, I let the “funny” slip my mind, until about an hour later, I witnessed for myself the “funny”, and it wasn’t funny at all.

What was this? Our Beatrice, resting on our bed, suddenly stiffened, and her entire body curved backwards, her arms and legs flailing, jerking, her eyes rolled into the back corner of her head not moving but fixed and shaking, her face frozen, swollen, giving the appearance of a wax figure, drool pooling and running out of her mouth, which was clicking, as her lips slowly moved up and down, up and down. I did not even allow time for my brain to try and figure out what this was, rather mother’s instincts completely took over, as I rushed out the door with Beatrice straight to the emergency room, where she continued to seize, but now, with the addition of turning blue as she stopped breathing with each attack. What was this?

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After 10 days in the ICU, our little “blessing” was released from the hospital on prescribed barbiturates, no diagnosis, and continued daily seizures for a month. All we knew was that the fever, which accompanied her “cold”, which turned out to be RSV, had triggered what was called a childhood febrile seizure, but why the seizures continued and she lost her hearing for 4 months, the doctors were forced into no longer categorizing her case as any common febrile seizure.

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Our life was now lived as if walking on shifting sands, never knowing when things would go back to normal, or if they ever would. Beatrice is now 3 years old, she has endured many, many more seizures, in and out of the hospital, a smorgasbord of daily antiepileptic drugs, EEG monitoring, MRI’s, deafness, behavioral problems, disturbed sleep, speech impairments, and cognitive delays. But after 2 years of living our new life, genetic testing has given us an answer, our diagnosis: PCDH19!

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With this much desired and awaited for diagnosis, we found out Beatrice’s life would now be filled with enduring more seizures, in and out of the hospital, a smorgasbord of daily antiepileptic drugs, EEG monitoring, MRI’s, behavioral problems, disturbed sleep, speech impairments, and cognitive delays: in other words, there is no cure for PCDH19. We hope for the day for a cure, but in the meanwhile, our little Beatrice does bring us the greatest of blessings: LOVE!