Dear Family, Friends and Supporters of SLC6A1 Connect:

In honor of Rare Disease Day (Week?) 2023, we are sharing this trailer for a new documentary, “Too Rare to Care,” by the fierce Rare Disease mother and talented producer, Lainey Moseley.  The documentary features our own superhero mom Amber Freed, who has dedicated her entire life to advocate for a cure for SLC6A1, her precious Maxwell and all of the children and families suffering. When these families receive the devastating diagnosis of a rare disease, time and again they hear, “There is nothing we can do… No effective therapy exists… “ There is literally NOTHING that comes next.   

SLC6A1 is one of roughly 6,000 identified rare diseases, 72% of which are genetic.  Collectively there are 300 million people worldwide living with rare diseases, equivalent to the population of the world’s third largest country.  Seventy percent of genetic rare diseases start in childhood (Nguengang, et al, 2020).  So, if a disease was affecting the entire population of the world’s third largest country (predominantly its children)- don’t you think something would and should be done about it?

The sad truth is that these diseases, while formidable in numbers when combined, are considered ‘too rare to care’ by the current biotech/pharma company models, placing the burden of science and development squarely on the shoulders of families.  Families who, by the way, are also caring for children with exceptional needs and navigating all that entails. A select few parents, like these featured in Moseley’s documentary, become overnight experts in genetics, bioscience and drug development.  These parents become the best partners to scientists because they are so deeply invested- it literally will change their lives and the lives of those around them.

This is a nonpartisan issue, a human issue.  As NORD, the National Organization of Rare Diseases, defines it, “EQUITY for people living with a rare disease is equitable access to diagnosistreatment, health, social care and opportunity.”  Something every parent wants for their child. We believe there is a better way and the tools are there to improve these grave statistics.  It is possible to find a cure together.

Please take a moment to watch and join us this Rare Disease Day and every day, in fighting for our kids. Please donate here to help us find a cure for SLC6A1 disease.

Categories: Uncategorized

Kevin McEntee

I am an SLC6A1 Dad working to help find a cure!


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