Xtraordinary Joy

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

• Fragile X Syndrome due to FMR1 gene deletion: Fragile X Syndrome
• Hunter Syndrome (Mucopolysaccharidosis II) due to IDS gene deletion: Hunter Syndrome

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:

• GiGi’s Playhouse Down Syndrome Learning Center
• Celebration UMC Respite Nights
• Center for Autism Related Disorders – CARD
• Early Steps
• Family Café
• UF XJOY Student Chapter
• Night to Shine Special Needs Prom
• Alachua County Special Needs Facebook Group
• Rare Genetic Syndrome Facebook Support Group

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:

• Chromosome Disorder Outreach
• Unique Chromosome Disorders

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