When you think of effective fundraisers, do you think of pickleball? Well, a Kansas community did just that. According to a video and transcript on KMBC News 9, his community rallied around 3-year-old Charlie Fry to help raise money to support him and his family. Two years ago, Charlie was diagnosed with SLC6A1, a rare genetic disease. Interestingly, SLC6A1 gene mutations may cause a variety of neurodevelopmental disorders. For this specific story, we are just going to say “SLC6A1.”
SLC6A1
What exactly is SLC6A1? According to the National Organization for Rare Disorders (NORD):
SLC6A1 epileptic encephalopathy is an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene. Clinical manifestation of SLC6A1 epileptic encephalopathy is characterized by early onset seizures and mild to severe intellectual disability.
Other names for this condition include GAT1 deficiency, SLC6A1-related disorders, SLC6A1-related myoclonic-atonic epilepsy (MAE), and SLC6A1 haploinsufficiency.
The condition is still relatively new and being learned about. In fact, NORD acknowledges that there are only around 34-35 diagnosed cases. However, more diagnoses will most likely be made with wider newborn screening. Because of this, we are still working to understand the symptoms. But from the current understanding, symptoms may include:
- Early-onset seizures at a mean age of 3.7 years old
- Note: These may be myoclonic-atonic epilepsy or absence seizures.
- Impaired language and cognitive development
- Intellectual disability
- Low muscle tone
- Behavioral difficulties
- Ataxia
- EEG pattern with irregular, generalized, and high ample spike-and-waves
The Fundraiser
Charlie Fry was first diagnosed with this condition two years ago, in 2019. His family explains that learning about and coping with his illness has been all-consuming, that it “defines” them as a family. In Charlie’s case, his symptoms include seizures, tremors, autism, obsessive compulsive disorder (OCD), and learning difficulties.
Despite everything, the Fry family is hopeful that this condition can not only be treated – but cured – in the future. $4 million is needed to begin clinical trials and start developing gene therapies. On September 18, 2021, the family ran the 1st ever annual “A Cure for Charlie” pickleball tournament. As the fundraiser page explains, the doctors initially said nothing could be done to help Charlie, but:
The Fry family chose not to accept Charlie’s fate and decided to fight alongside the Freed family to create a miracle. A gene therapy is being developed along with the University of Texas to cure every child with this disease.
Altogether, the Fry family believes that they are in a fight against time and is looking for assistance. To learn more about Charlie’s story, and how you can get involved, take a look at the Fry’s page at acureforcharlie.org.
