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Rian Rodriguez-PenaLittle Canadian girl with AADC
Country:
 Canada |
Content:
- A Little Canadian Girl with AADC
- A Prolonged Diagnosis
- The Devastating Effects of AADC
- - Inability to sit, roll over, or use her hands
- Support and Awareness
A Little Canadian Girl with AADC
Two-year-old Ryan Rodriguez-Pena, a young girl from Mississauga, Canada, suffers from an extremely rare disease known as Aromatic L-Amino Acid Decarboxylase Deficiency (AADC). Ryan was born in April 2015, and her parents first realized something was wrong as early as the day she was born.
A Prolonged Diagnosis
For seven long months, doctors struggled to identify the cause of Ryan's suffering. She underwent countless tests, including MRIs, EEGs, blood tests, and even spinal taps. Finally, in November 2015, she was diagnosed with AADC, a disorder that affects the neurotransmitters and impacts Ryan's every aspect of life, from movement to development.
The Devastating Effects of AADC
AADC is an inherited genetic disorder that affects the production of neurotransmitters, such as dopamine and serotonin. Only 130 cases of AADC have been reported worldwide. Ryan's case is particularly severe, as she suffers from a number of debilitating physical symptoms:
- Inability to sit, roll over, or use her hands
- Severe muscle weakness (hypotonia)- Difficulty with mobility
- Involuntary, continuous writhing movements of the limbs (athetosis)
- Seizures
- Extreme irritability and excitability
A Glimmer of Hope: Gene Therapy
The only hope for Ryan and her family lies in a new gene therapy, which is currently not approved in North America. This therapy involves surgically implanting a working copy of the AADC gene into Ryan's brain, allowing her to produce the necessary neurotransmitters.
Support and Awareness
Ryan's family has launched a GoFundMe page to help cover her medical expenses and raise awareness about AADC. They are also working to organize a fundraiser in April 2017, where half of the proceeds will go towards Ryan's medical expenses and the other half will be donated to the AADC Research Trust in the United Kingdom.
