Community support can be extremely uplifting and important, especially when one is impacted by a rare disease. This is the case for three-year-old Charlie Fry, who was born with SLC6a1. His family is on the journey towards a cure, which requires millions of dollars for research. They’ve been working with other affected families to raise money, and four local boys have recently come together to help out. They raised $10,000 in just two hours with their lemonade stand.
According to the Children’s Hospital of Philadelphia (CHOP), SLC6a1 is a spectrum of neurodevelopmental disorders that are caused by mutations in the SLC6a1 gene. It is a recently discovered condition, meaning that medical professionals do not yet fully understand it. When it comes to symptoms, they have identified developmental delays, behavior disorders, epilepsy, cognitive impairment, hypotonia, features of autism spectrum disorder, and movement disorders. These can vary in severity among affected individuals.
While there are variations among the different forms of SLC6a1-related disorders, they are all caused by alterations in the SLC6a1 gene. This gene is responsible for a major neurotransmitter, the GABA transporter. Its job is to tell neurons to stop firing, so this process is disrupted in affected individuals. Treatment for this condition is symptomatic, as doctors will work to stop and treat any seizures that occur, along with managing the other effects. Occupational, behavioral, speech, and physical therapy are often useful in the treatment of SLC6a1-related disorders.
Raising Money for Charlie
Set up outside of Jasper’s Restaurant in Kansas City, MO, Leo’s Lemonade had the goal of raising money for Charlie Fry. Within just two hours, the stand raised $10,000, which amazed organizers and the Fry family. All of this money will go towards research for a cure.
The community is ecstatic that they could come together to help in such a large way, and they hope that their efforts will one day lead to a cure for SLC6a1-related disorders. If you’d like to help their cause, you can donate here.
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