mTOR Related Disorder and Smith-Kingsmore Syndrome (SKS)
On August 21, 2019, Ezra received the diagnosis of "mTOR Related Disorder" by the Undiagnosed Diseases Network (UDN) at Duke University Hospital. We were told that Ezra was the fifth known (at that time) to have a specific mTOR gene variant, named p.Thr1977Ile. It's been six months since his diagnosis. During this time, we have been processing, learning, researching and connecting with other families with a similar diagnosis. Ezra, 3 years old On diagnosis day, our UDN geneticist explained to us that the diagnosis, mTOR related disorder, is a broad and generic term referring to mutations in the mTOR gene (which is responsible for a ton of things!). He did his best to explain all that he knew, based on the very limited research about Ezra's gene variant. The geneticist had two research papers and handed them to us. One was published in July 2016 (coincidentally the same year Ezra was born) which documented the first three individuals, and the other was pub