Turning grief into purpose

The story of Carla

I’m Carla, a mom of a Hirschsprung’s Disease (HD) child -who passed away at the age of 14 months- due to an undiagnosed enterocolitis. For years, I’ve been silent in regards to HD awareness, because I thought the tragic ending of our story would be hopeless for other parents on the same road. On the contrary, today I believe all I’ve learned should weigh more than our loss -and it’s also a way to keep on writing Augusto’s (my son) and our family’s story-.
That’s why, in 2022, I’ve founded a patient advocacy group in my country -Argentina- which now serves as support for plenty of families across Latinamerica.
My first step when founding Hirschsprung Argentina, was to develop a Spanish HD Alert Card together with physicians from a Reference Hospital, in a way to prevent undiagnosed enterocolitis and guide non-specialized physicians on how enterocolitis is diagnosed and treated.
HD is a congenital bowel motility disorder in which our baby lacks the nerves needed for having bowel movements. It is often diagnosed shortly after birth, as our newborn won’t have a bowel movement within 48 hours, together with a swollen belly, gas and vomiting. Sometimes, symptoms become apparent later and our baby will experience chronic constipation and swollen belly. Once HD is confirmed through colon biopsy, the treatment will be a surgery to remove the diseased part of the colon and allow our baby to pass stool in the usual way. In some cases, surgery is done in two steps, meaning that our baby will have a temporary stoma -an opening in the abdomen from which stool will exit from the colon- until the final surgery could be achieved. After surgery, some complications might occur which include diarrhea, loose or leaking stools, diaper rash, constipation, delays in potty training and -parents’ terror- enterocolitis.