CDKL5 Case Studies

Nov 2018

Ava Marie

Ava is a 9 month old little girl who started having seizures at 8 weeks old and was diagnosed with CDKL5 at 4 months old. At the time Ava began having seizures we were very scared and confused. My entire pregnancy,...

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Oct 2018

Noa Luna

In 2008 my dream came true I became pregnant from a girl. After a quiet easy pregnancy of exactly 40 weeks Noa Luna was born. A beautiful baby, she was perfect. Normal weight, length, Apgar score 9-10. I gave her...

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Oct 2018

Josephine

My daughter, Josephine, is 3 years old. She is loving, sweet, demanding, needy, and the light of my life along with her older neurotypical siblings who are 16, 18, and 21. She was diagnosed with CDKL5 right at her third...

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Oct 2018

Maia

Maia is a tall and slender 11-year old girl who keeps everyone around her on their toes at all times. Maia’s seizures started at the maternity hospital, even though they were not officially diagnosed until when she was about 3...

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Oct 2018

Kiera

Kiera is a twelve year old beautiful and free spirit living with CDKL5 deficiency. She lives at home with her mom and dad, and sometimes her equally free-spirited grandfather, who is her best friend and partner in mischief. There's no...

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