Smiles Included: Navigating through life with our rare disease superheroes

Cynthia Lang: Skraban-Deardorff mom working to find a treatment for her son

June 16, 2022 Emily Beauclair Season 1 Episode 1
Smiles Included: Navigating through life with our rare disease superheroes
Cynthia Lang: Skraban-Deardorff mom working to find a treatment for her son
Show Notes

Welcome to our first podcast!  Ignore the sound issues...we can only go up from here!  But it will be hard to beat my first guest, Cynthia Lang.  

Cynthia is a mom to a son that was recently diagnosed with Skraban-Deardorff and we had a great conversation about what the diagnoses has meant for her family and how it has set her on a path to find a treatment for this rare disease.  She has partnered with a company called Rarebase (rarebase.org) that is leveraging cutting edge technology to potentially help all the kids diagnosed with Skraban-Deardorff Syndrome.  

If you are interested in participating in the Rarebase research, please visit their website or reach out to me at SmilesIncludedPodcast@gmail.com and I can share a document from Cynthia.

Other allies in the genetic research fight mentioned in this podcast are:
National Organization for Rare Disorders (rarediseases.org)
Global Genes (globalgenes.org)

Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.