For Those Just Like Me

The story of Iliana

I was diagnosed with Peutz-Jeghers Syndrome in October of 2019 when I was 17 years old. It’s a rare genetic disease that causes polyps to grow in my gastrointestinal tract, like my stomach, colon, and small intestine and puts me at risk for developing cancer up to 93%. The cause is a genetic mutation to the STK11 gene, and people with PJs develop dark or blue freckling in and out of the mouth, lips, fingers, and toes. Since I was first diagnosed, I have had one laparoscopy, 4 colonoscopies, 3 endoscopies, 1 capsule endoscopy, 1 double-balloon enteroscopy, and one major surgery with anywhere from 25-35 polyps removed. With every hospital visit come a lot of paper work, phone calls, traveling, doctor appointments, medication, healing and recovery, and especially heartache. Knowing I have to go through this for the rest of my life is difficult. Without fail, I wake up every morning thinking “is today the day I will end up in the emergency room, again?” because that is how it all started. I was a senior is high school getting ready early in the morning for senior picture day. I took my picture first thing in the morning and shortly after, I started to feel pain in my abdomen that grew more intensely by the minute. I recognized the pain since it was something I have experienced before. I thought the pain would disappear sooner or later and I would go about my day. I was wrong. I found myself in the emergency room where they then administered me an MRI. They concluded I had an intussusception, a serious condition in which part of the intestine slides into an adjacent part of the intestine. The doctors and nurses were highly concerned why a 17 year old was experiencing an intussusception because it occurs more in children and infants. No medical professionals were able to provide me with the care I needed, so they flew me 2 and a half hours (150 miles) away from home. I was emitted into the hospital where I was then administered an Nasogastric intubation (NG tube) to empty my stomach. The next morning I laid in the operating room awaiting for my surgery. When I woke up, my dad explained to me what had happened and my diagnoses. I remained in the hospital for several days before I was released to go back home.

PJs is rare. 1 in 25,000-300,000 people are affected by this disease. If you know someone with PJs, give them a hug for me, I know they need it. And, if this is your first time hearing about it, please take a couple seconds out of your day to research it. My mission is to bring awareness and maybe just maybe there will be a cure.