Creative, free-spirited, business owner, and recent college graduate, Adariel Lee, of the Bronx, NY, was diagnosed with Marfan syndrome at the age of 4 when her mother noticed she was looking down at her hands a lot. At an eye doctor appointment, they learned that the connective tissue in her eye was loose, leading her to additional medical evaluations. As a result, the diagnosis of Marfan syndrome was confirmed. Adariel is the first in her family to have the condition.
Nick (front) and Connor in July 2020
On the morning of December 3, 2020, Nick Metz, a 16-year-old in California, was schooling from home like most kids in the US when I pulled him to rush to the hospital. His 13-year-old brother, Connor, had been taken to the ER earlier in the morning to address what we thought was merely a back ache.
Jasmine’s family (l-r) Mom Joanne Duffey, dad Alvin Duffey, Jasmine, sister Jawanda Duffey, and brother Jarvis Williams.
At 6’7” tall, Jasmine Duffey was one of the nation’s top basketball prospects in high school. She headed to Middle Tennessee State to pursue her dreams of college basketball, with hopes of going even further in the sport she loved. It was not to be.
If you have a connective tissue condition or are seeking an evaluation for one, you know that you need to see a cardiologist to evaluate your heart, an orthopedist to evaluate your bones and joints, and an ophthalmologist to evaluate your eyes. But what is the role of the medical geneticist?