Xtraordinary Joy

Fighting Rare Genetic Disorders with Joy!

Xtraordinary Joy Resources Page

Resources

At Xtraordinary Joy, we know that community is essential to overcoming the trials of a genetic disorder. Whether you are a parent of a child recently diagnosed, or a sponsor interested in learning more about the research, we hope you will find the information listed here to be helpful and comforting.

Resources

Xq27-q28 DELETION

Possible symptoms
  • Low muscle tone resulting in delayed crawling, walking
  • Sensory Processing Disorder
  • Gag reflex, swallow difficulty, sucking difficulty, oral aversion, teeth grinding
  • Drooling
  • Chronic sinus and ear infections
  • Autism; non-verbal
  • Seizures
  • Intellectual disability
  • Constipation
  • Some families have reported breathing issues, organ anomalies, growth problems
Underlying disorders within deletion
University of Florida scientists are teaming up to examine the effects of gene deletion on biochemical pathways and attempt to rescue brain circuitry with targeted therapies.
Local (Gainesville, FL) Resources and Partnerships:
Listen to this Made in Gainesville podcast episode featuring Amy Meacham discussing the Xtraordinary Joy organization as well as her experience with X-chromosome deletion disorders: Amy Meacham – Made in Gainesville
National Chromosome Disorder Registries:
Xtraordinary Joy works to further its mission through a wide variety of events in the Gainesville area. Below are a few past events that Xtraordinary Joy has hosted or been a part of:
  • Disability Resource Fair
  • Night to Shine Prom for Special Needs
  • Virtual 28 Mile JOY Challenge
  • Human Foosball Tournaments
  • Xtraordinary Joy Masquerade Ball