- Peutz-Jeghers syndrome
- Interviews
Sarah's interview
How did all start?
This is a genetic mutation, so I have had it my whole life.
Do you already have a diagnosis? How long did it take you to get it?
I got diagnosed late in life (~48) and began treatment with a high-risk genetic cancer team. I had been sort of diagnosed as a young child, but my mother was told that there was nothing to worry about. Peutz-Jeghers Syndrome is extremely rare, and most of the research is very new. It took another 45 years to find a doctor who recognized it and knew where to refer me.
For what medical specialties have you been treated? What has been the most useful specialty for your?
My PJS is primarily treated by a gastroenterologist who specializes in complex polyp removal. PJS polyps grow quickly and throughout the small and large intestines. They can grow very large and in difficult areas. An experienced specialist will avoid surgical intervention as much as possible to keep the digestive system intact. My team also includes cancer specialists to screen and manage my high cancer risk.
What has been the most useful thing for you so far?
Finally having a diagnosis to explain my lifelong anemia, fatigue, and digestive pain. I now have a team of professionals who know about my disease and take me seriously.
What have been your biggest difficulties?
Getting the diagnosis was very hard, and it only came after about a year of being unable to work, socialize, or anything beyond sleeping and taking care of very basic needs.
I had been trying to find answers for my symptoms my whole life, but I got dismissed and misdiagnosed by every single doctor and specialist I saw. Medical gaslighting took a very heavy toll on me emotionally and physically. Now I have to go through many procedures to remove all the polyps that have been building up.
What things have you stopped doing?
Pretty much everything. My energy is very limited and I can barely eat. Managing my healthcare has become my only job.
