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.
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 with deletion
- Fragile X Syndrome due to FMR1 gene deletion: Fragile X Syndrome
- Hunter Syndrome (Mucopolysaccharidosis II) due to IDS gene deletion: Hunter Syndrome
Disability Advice Parenting a Child with a Disability: A Guide to Support, Resources, and Advocacy
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
Podcasts
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:
National Chromosome Disorder Registries:
Xtraordinary Joy works to further its mission through a wide variety of events in the Gainesville area through partnership with related organizations. Check out our Events page for more info and fun photos!
