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

Xq27.3-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.
University of Florida College of Medicine