The story of Janna
Janna has had several health problems throughout life, beginning at birth. Doctors told us that the health issues were not linked together. When she developed an unusual spot on her leg in December of 2015 and doctors in our area were perplexed, we did our own research and had a suspicion that she could possibly have PTEN. We found a general surgeon at Children’s Hospital in New Orleans who would see her. He could not treat her, so he referred her to the Vascular Anomalies Team that was affiliated with that hospital to examine her leg. The general surgeon did listen to us and our fears that she might have the PTEN syndrome that would link all of my symptoms together. So, he also referred her to a genetic doctor. The genetic testing results came back in May of 2016. She was postive for PTEN/Cowden Syndrome.Â
Janna sees her general doctor in Monroe, LA every two months to have checkups, which include CBC, urinalysis, thyroid levels, and any other unusual symptoms she might have. She sees her dentist in West Monroe, LA every six months to keep check on gum overgrowth and her teeth. Also sees an ophthalmologist in West Monroe once a year to watch for AVM’S in her eyes. She has an endocrinologist that she sees once a year to monitor thyroid levels, a gynocologist that sees her once a year to monitor female issues, and a pulmonologist every six months to monitor lung issues all in Shreveport. She sees a cardiologist, a urologist and a dermatologist once a year in New Orleans. She has an oncologist she sees every six months in New Orleans to monitor all issues. She also sees a gastrologist every six months for a colonoscopy and EGD in New Orleans. Janna is also followed at Cleveland Clinic in Ohio.Â
Janna is 17 years old and has had thirteen surgeries and three colonoscopies with EGD so far in her life. She is also enrolled in three research studies at Cleveland Clinic that began in January of 2016. This syndrome is very rare estimated that one in two hundred thousand people are affected by this worldwide.Â
Connect with other people living with Cowden Syndrome – RareConnect.org
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