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Jul. 20, 2019

TOPIC: Patient Stories

Nicole’s Gastroschisis Story

Posted by Lisa Sencen

The following story was submitted by Nicole in honor of July’s Rare Spotlight, Gastroschisis.
In this story, Nicole reflects on her difficult journey with the condition; an outlook her doctor’s were not expecting.

I’m a 38 year-old woman who was born with gastroschisis, a rare birth defect in which the intestines protrude through the right side of the umbilical ring with an intact umbilical cord on the left side. Although the defect is normally detected during routine prenatal ultrasounds, mine was not and neither my mother nor the doctors were prepared. The hospital was not equipped to handle the situation and I was airlifted immediately after birth to NYU Hospital in Manhattan. I had two major surgeries over the course of six weeks to repair the opening in my gut and put all the intestines back. Following surgery, the doctors told my mother that I may not be able to have children in the future, but other than that I would be okay. Boy, were they wrong.

I do not have any memories where my stomach/abdominal pain wasn’t an issue. Because food is not digested normally, I have always suffered with sharp pain, bloating, constipation, pressure, adhesions, blockages, vomiting, etc. As shown in the many tests and scanning that I have undergone, I am a complete wreck. My intestines are a twisted mess, nothing is in its proper place (think lower right stuff (appendix, etc.) is in my upper left area…FUN!!!), the adhesion scars are everywhere wreaking havoc at every moment possible. I do not go a week without vomiting or intense stomach pain. I manage all of this completely without “pain meds” as traditional pain medication makes my symptoms worse. 

I was hospitalized again at age 12, with what was believed to be appendicitis. That turned into a six hour exploratory surgery because the doctors couldn’t find my appendix. As an adult, I’ve been hospitalized three times for massive abdominal pain and intestinal blockages caused by the adhesions. I’ve seen six different gastroenterologists and two colorectal surgeons. I have had entire major practices pass on even seeing me as a patient. I had a 30 year veteran radiologist tell me they’ve never seen anything like my gut (why, thank you). I’ve had doctors completely contradict each other as to treatment. No one can help me stop the pain that comes with eating or digesting. No one seems to know anything about the ongoing complications of being born like this. Just once I would like to eat and not worry about whether I’ll be throwing up or twisting in pain for hours. I want to be able to see a doctor who has heard of and treated someone like me successfully just once.   

Given all of the pain and social implications that this has caused me, the one thing this defect did not interfere with was my ability to have children. I have three wonderful children. Each pregnancy went smoothly and there were no complications from my birth defect. I was relieved to know that gastroschisis is not hereditary. Any research into gastroschisis would be wonderful, not only for those who continue to be born with this, but for those who are living with the ongoing complications of this defect.