A Cautionary Tale: What Happens When You Leave a Rare Disease Untreated

I was 7 years old and in second grade when my symptoms began. There was this chronic stabbing intestinal pain and vomiting, diarrhea, severe weight loss, heart palpitations, dehydration, malnutrition, fistulas rupturing from my intestines outward, and severely swollen ankles.

I was diagnosed with Crohn’s Disease at age 9 in fifth grade and was given less than a year of treatment with prednisone to which I responded well. Unfortunately, my parents decided they did not want to purchase medications for me and that they would cure me with herbs and meditation through a religious group. My disease worsened dramatically until I was able to get away from home and then get to a hospital at age 21 in 1985.

Since I had no medical records, and a giant fistula in my abdomen which served as a homemade ostomy, with everything I ate or drank pouring out of this hole in my gut, the surgeons had no idea what they would find when they operated on me to close the gaping hole in my abdomen. Unfortunately, in order to cut out the diseased intestine, I had to lose 85% of the overall length, leaving me with 39″ of small intestine and 12-18″ of large, about 4 feet combined (the average person has 26-28 feet total.)
Because of my radically short intestines couldn’t absorb enough nutrients or fluid to keep me alive, I was diagnosed with Short Bowel Syndrome (or Intestinal Failure) and confined to daily and nightly home intravenous infusions of 5 liters of fluid and nutrition to survive (Total Parenteral Nutrition or TPN). I have now been on TPN home infusions for 31 years.

In 2013, a new drug came to market which helps improve absorption so I’ve been able to decrease my dependency on TPN but there is still no viable treatment alternative for Short Bowel Patients since intestinal transplants have proven to have very high morbidity and mortality rates.

I am 53 years old now and an advocate for others with Short Bowel Syndrome/Intestinal Failure and I co-founded the SBS Cure Project in 2014.