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Penny's Pal

Penny's Pal
??Meet Penny Lou??

Penny is a local Goliad toddler who was born with a rare genetic disorder called CDKL5. This disorder causes her to have multiple seizures of various types and does not respond to traditional medicine. Due to the drop seizures, Penny is a high fall risk.

She experienced her first seizure at 2 months that caused her to be hospitalized for weeks. She endured countless EEGs, blood work and MRIs. It took the doctor 8 weeks to figure out that Penny had a genetic mutation called CDKL5.

CDKL5 is a non-hereditary disorder that causes early-onset difficult to control seizures and severe neuro-developmental delay. The CDKL5 gene provides instructions for making a protein that is essential for normal brain and neuron development. Although relatively little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene of Rett Syndrome. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

Penny has also been diagnosed with West Syndrome, Strabismus, Lennox-Gastaut Syndrome and Epilepsy. With all these conditions, Penny faces a lot of obstacles every day. She has seizures daily which causes her to be very clumsy.

While Penny is still in her early years of life, she has had to undergo a lot of doctor’s appointments and therapies. Besides having to fight these tough battles, Penny is a very happy 3 year old. She loves Moana, singing into her karaoke machine, and playing outdoors. We are hoping to raise the funds for a service dog so that she will have someone to guide, comfort and help protect her.
Raffle River has helped Penny's Pal
Penny Cabrera, Main Contact
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Penny Cabrera
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