I’ve been a director of CF Roundtable/USACFA since 2009 and was President for 5 years. I’m the current Treasurer and am a physician. I was diagnosed late in life via genetic testing at 33 y/o through the wonderful work of researchers at UNC. They confirmed the CF diagnosis for myself and three of my siblings. Even though my siblings and I had symptoms since childhood, our sweat chloride levels were not high enough to warrant a CF diagnosis. We had to wait until advances in genetic testing made the CF diagnosis possible and to receive the standard CF therapies. One of my siblings, my dearest sister, passed away from CF in early 2003.
I’m hopeful in knowing that stories like mine of delayed diagnosis and treatment will be a thing of the past with advances in CF diagnosis and particularly with newborn testing programs. These programs exist to diagnose those with CF or CRMS (CF-Related Metabolic Syndrome) as newborns and more importantly, to provide surveillance and treatment earlier in life.
Being a part of the greater CF community and CF Roundtable has brought much joy, especially since CF Roundtable programs have become an integral part of my life and for thousands of individuals in the greater CF community.