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Kids are born perfectly healthy. As toddlers, they are sick a little more than others: mostly ear infections and diarrhea. At kindergarten, they are usually somewhat slower than other kids in development and sometimes need speech therapy. Nothing alarming comes from the specialists; parents are told that their kids are progressing well and will catch up soon. By middle school, kids have developmental delays in auditory processing, gross/fine motor skills and language; learning disabilities; and ADHD. These symptoms might be labeled with a diagnosis of autistic spectrum disorder.


John Snell Interview

Aspartylglucosaminuria (AGU) is a rare, fatal metabolic disease that belongs to a group of Lysosomal Storage Disorders. AGU’s initial symptoms are language delay and clumsiness, which appear between two and five years of age. As this disorder progresses, language skills are affected the most and a child might be diagnosed with autism spectrum disorder (PDD-NOS or Asperger Syndrome). Children usually do not stop developing until their early twenties, but the learning occurs at a slower rate. An AGU child’s life expectancy usually averages between 25 and 35 years of age, with young adults typically dying from infection. There is currently no established cure for AGU.

In December, 2012, we started a project to find the cure for AGU to help children and young adults around the world. Currently, the treatment is in the pre-clinical studies’ phase.

Too Rare To Care: John Snell reports
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Rare Trait Hope Fund is a 501(c)(3) non-profit organization whose main mission is to raise funds, to facilitate research, to support development of a treatment and cure for AGU, to increase awareness and screening for this misdiagnosed disease, and to be a resource for families, doctors, and scientists world-wide.

- Donate now to help fund the cure;
- Join us and help us raise funds for a treatment and cure, which will save precious lives. Help the families raise funds towards the continued development of gene therapy and a therapeutic drug approach; 
- Help us spread awareness, so the families will know they are not alone. Like us on Facebook

Together, we can develop a cure for AGU. Thank you for your support!

Work in Progress