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CDKL5 Spotlight on Toryn


Our journey with CDKL5 Deficiency Disorder began April 7th, a day forever burned into our memory. At 8 months of age, Toryn’s seizures began. They came on fast and furious, starting from “What was that?” To her having them hourly. It was one of the longest most terrifying days, and yet that was only the beginning of our journey.

Toryn’s first hospital stay lasted 3 days, in the middle of a global pandemic. After starting her first anti-seizure medication, she completely stopped having seizures! That seizure freedom only lasted 5 days before they returned. Even while on medication she was having 6+ seizures per day. When we added a second medication, we still saw no seizure control. We would increase medication, add medications, increase, add, all the while seizure after seizure. With each new medication, you always get hopeful that it will be the unicorn you’ve been waiting for! Then another seizure happens, and again… and again. Some medications wiped her out, making it hard for her to function, some took away her smile and her laugh, and others even took away her appetite. You don’t just fight the disorder, but you also fight to find not only a medication that works, but one that doesn’t suppress your child as well.

We have been fighting CDKL5 for 7 months, 7 excruciatingly long months.

Toryn is now 15 months, and she has anywhere from 1-2 daily seizures to, at best, every other day. Aside from seizures being our biggest concern so far, she also struggles with gross developmental delays, mild Cerebral Visual Impairment and mild Ocular Motor Apraxia. Her current team of therapists includes Speech, Vision, Occupational, Physical, Nutrition, Developmental, and CME based Physical therapy.

These last few months she has made tremendous progress with gross and fine motor skills! Even just the last few weeks, after removing one medication, we are starting to see her personality brighten up again. It felt like we went months without hearing her laugh, and to finally hear it again these last few weeks, just about brings us to tears every time. Every little thing she does is beyond amazing, but couple that with the many challenges she faces, we celebrate every victory and accomplishment, no matter how big or small!

CDKL5 is a devastating diagnosis. Especially when you go down the rabbit hole of internet research. We have no idea what her future will look like, whether she will talk, or even walk, but that won’t stop us from giving her every opportunity and therapy possible to help maximize those outcomes. To know Toryn is to know how incredibly resilient and strong she can be. To fight her seizures and give us a smile after, only to make us feel better. She has so much to teach us and so much to teach the world. Her diagnosis is apart of who she is, but it does not define who she is.