Navigating XQ28 Duplication: A Powerful Tale of Courage and Legacy
Description
The first episode of "Exceptional Stories and the People Who Live Them" features show host Steve Dover and his wife Metha as they share their story.
Steve and Metha will focus on the life of their son Noah, who was diagnosed with a rare genetic disorder, XQ28 Duplication, at an early age. Noah passed away in 2015 at the age of 13.
The National Library of Medicine website reads, "Xq28 duplication syndrome is an X-linked intellectual disability syndrome characterized by variable degrees of cognitive impairment (typically more severe in males), a wide spectrum of neurobehavioral abnormalities, and variable facial dysmorphic features. Affected males also exhibit a peculiar combination of recurrent sinopulmonary infections and atopy, findings that have not been observed in affected females. All males reported to date with the syndrome have moderate-to-severe intellectual disability; in contrast, a minority of heterozygous females have been reported to have mild intellectual disability, while the majority have no discernible health or learning issues and are considered clinically unaffected."
Listen as we share the ups and downs of parenting a child with special needs. You will be inspired by this story of love, life, and loss.
Host: Steve Dover
Email: exceptionalstoriespodcast@gmail.com
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