Avery Kozera

Avery was just 4 weeks old when she first began having seizures. These episodes were initially brushed off by her pediatrician as reflux. Luckily, we followed our parent’s intuition and got Avery to CHOP, where she was admitted for the first of what would be many stays.

It was confirmed that she was having seizures and the following weeks were spent trying to get them under control. While there, the neurologist sent a genetic panel to find out *why* Avery was having untreatable seizures. Three long weeks later, we had our answer – CDKL5 Deficiency Disorder.

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function.
The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development.

At 7 years old, Avery’s seizures are still not controlled. She is non-verbal and uses a wheelchair to get abound. She is also the sweetest little girl you will ever meet. Her sisters dote on her and her whole family loves her fiercely.

Avery has chosen to fundraise for Help Hope Live in part because Help Hope Live assures fiscal accountability of funds raised and tax deductibility for contributors. Contributors can be sure donations will be used to pay or reimburse medical and related expenses. To make a tax-deductible donation to this fundraising campaign, click on the Give button.

For more information, please contact Help Hope Live at 800.642.8399.

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