CDKL5 Awareness

Penny was diagnosed with epilepsy at 2 and a half months, then CDKL5 at 4 months. She had her first seizure at 2 months and 8 days of age. It was 4 AM and Penny woke up crying. We didn't really know what it was because she barely twitched, so we swaddled her up and went back to sleep. Later that day she had another at 9 AM so we called her pediatrician who said it was muscle spasms. We weren't very convinced so the next time she had one, we took her to the ER. At the ER, they told us she was having infantile spasms and she would outgrow it. Her little jerks were getting stronger and happening every 2 hours, so we set out to Texas Children's Hospital in Houston. They conducted 1 CT, 2 EEGs, 2 MRIs, 1 lumbar puncture, 1 whole exome sequencing test and a lot of blood work. At first, they thought Penny had mitochondria because she always had a rise in her lactate levels. However, the genetic test ruled that out and showed us her true diagnosis. CDKL5 is an incredibly rare and aggressive X-linked genetic disorder that results in early onset, difficult to control seizures. We will beat this and find a cure! #prayforpenny #pennyswarriors
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