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The National Center for Advancing Translational Sciences describes 19p13.12 Microdeletion Syndrome as a syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.
The prevalence of this disease is less than one in one million, with only 6 patients reported to date. It has been identified/diagnosed using comparative genomic hybridization (CGH) microarray, is a technique used to detect chromosomal copy number changes on a high-resolution scale.
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.
English and Spanish transcripts available at yannickmirko.com.
This was Rare Disease Daily #17, 19p13.12 Microdeletion Syndrome.
I’m yannick-robin. Thank you for your time.