This story is my rare cancer syndrome journey. I have a rare genetic illness called PTEN hamartoma tumor syndrome, which was diagnosed in 2011 after I was diagnosed with thyroid cancer in 2009. I am also a three-time cancer survivor, surviving two melanoma surgeries. I have undergone two preventative surgeries and get colon and kidney screening annually.
The rare disease diagnostic journey is often difficult and my experience is no different. When I was diagnosed with thyroid cancer at 36, I was having breast health issues and my Mom had experienced a primary breast cancer. I asked my physicians if there was a correlation and was told no. After some time I met with a genetic counselor who finally listened. She sent my bloodwork off to the Cleveland Clinic and several months later I received a result. I was positive for a PTEN mutation. Patients born with a PTEN mutation have a rare disease called PTEN hamartoma tumor syndrome. PHTS puts patients at high risk of developing breast, thyroid, kidney, colon, endometrial cancer and melanoma. Patients can also be affected with developmental delays or autism. Based on my experience, I believe PHTS is under-diagnosed. If a patient has macrocephaly, autism and or a family history of cancer, a pten mutation should be considered.
When I was diagnosed there was very little information or support available. After a fantastic visit to the Cleveland Clinic, I decided to start our non-profit foundation, PTEN Hamartoma Tumor Syndrome Foundation. We are dedicated to supporting the advancement of research by providing all researchers with additional tools to expedite research. We launched the only IRB patient-driven registry, a Center of Excellence Program to elevate patient care, and we have hosted two international patient symposia. We are also working to champion international, academically agreed upon care guidelines effort and develop a biobank to support research.
The message I like to share with families is hope. While scary, early diagnosis can help us better manage our care and gives us the opportunity to pursue screening or preventative measures if warranted. I believe treatments are within reach and our families deserve not only the best care, but also an opportunity to live healthy and without fear. I am grateful for all of the amazing PTEN warriors I have met and thankful that we have a strong community to work toward treatments. I am sharing my story because early diagnosis will save lives. Awareness sets us all on the path to a cure.
