“Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth as a result of missing nerve cells in the muscles of the baby's colon,” states Mayo Clinic. In an infant with Hirschsprung’s, stool moves through the bowel until it reaches the part where the nerve cells are gone. At that point, the stool moves slowly or stops.
25-year-old Stefania Little knows all about it. She’s been fighting Hirschsprung's since October 1992. Born a 30-week-old preemie at King Edward Memorial Hospital in Perth, Stefania’s mom began breastfeeding but moments later she vomited green bile. Nurses were frantically trying to figure out why this was happening. “One nurse, who was supposed to be on holiday, recognized the symptoms and called a doctor from Princess Margaret Hospital,” Stefania said. It was later diagnosed as Hirschsprung's disease.
She underwent colostomy surgery at just one week old. Six months later doctors performed a reversal and removed the section of her bowel affected by the disease. “They thought everything was fine. But no. When I turned one, doctors and nurses at PMH nicked named me 'million-dollar baby' because I had one million dollars worth of medical treatments.”
At age five, Stefania endured a 72-hour surgery that was planned to be 12 hours. She said, “I kept dying on the operating table. They had put an epidural into my spine during surgery. I woke up with nerve damage. I was completely paralyzed. I was hypersensitive and ended up with Bilateral drop foot and sciatic nerve damage in both legs and feet.” Stefania had to learn how to walk again and then six months later went through the same exact surgery with the same outcome.
By 10-years-old, she had been through seven colostomy surgeries and nine pull-through procedures. She has no large bowel. “I’ve had a total of 68 major surgeries. Though, 130 surgeries in all.” By the age of 25, she had survived 80 major surgeries and in total 143 procedures. “I now have a sacral nerve stimulator that is implanted into my back and the wires go into the nerves of my bowels to help my bowels function. Without this, I'm completely incontinent. I've had this since 2009.”
When Stefania was 14, a friend encouraged her not to cover up the scars on her stomach while they were at the beach. "We are still very close friends to this day. My scars are my tiger stripes,” she says. Despite everything Stefania has been through, she still played netball from age 11 through 17. She said, “I almost got into nationals, but due to leg surgery I could no longer qualify. I took up netball again this year and love it as much as I did 14 years ago.”
Stefania was told by doctors that due to massive scar tissue from multiple surgeries, she could not have children. But in 2010, at age 17, she gave birth by caesarian section to a beautiful baby girl. “My daughter Samantha passed meconium and my mum and I hoped she didn't have Hirschsprung's. But on day six of her existence, Samantha became lethargic, jaundice and had a very distended stomach.” Recognizing the symptoms all too well, they were off to Princess Margaret Hospital. Stefania said, “When we got there, the doctors took one good look at her last name, looked at my mum, then looked at me and said, ‘I remember you’. They knew exactly what it was because they were my doctors.” Samantha had a pull-through procedure at 8-days-old to have 30cm of diseased bowel removed. She's currently on medication (loperamide and fiber) to help with incontinence but Stefania says, "overall Samantha is doing well."
In 2013, she gave birth to a baby boy at 36 weeks. “Damien was born with chromosome ring 9, raised cleft pallet, club feet, three holes in his heart, aorta narrowing and Hirschsprung's disease.” Damien passed away when he was nine days old. In May 2017 Stefania underwent an operation to prevent her from becoming pregnant. She said, “It was a hard decision to make, but I am grateful for my daughter.”
“Hirschsprung's will no longer control my life,” she says. “I am NOT Hirschsprung's disease. I HAVE Hirschsprung’s disease.” On her Facebook page, Kicking Hirschsprung's In The Ass, Stefania created a free personalized Hirschsprung's digital awareness ribbons for anyone to use. “I've come to appreciate all the things I went through because it's helping others. Along with making new friendships and meeting some wonderfully supportive people.”
Last year she read a comment asking if there was an awareness day for Hirschsprung’s. “I had no idea,” she said. “I did some research and found out there wasn’t a day, week or month for recognition. So, I applied through calendar events who told me they couldn’t approve it since I wasn’t nonprofit status.” She reached out to several Hirschsprung’s organizations for assistance but none showed interest. This did not stop her. In April she came across Bowel Group For Kids (BGK). After sharing her story and advocacy efforts, they were delighted to help and even asked Stefania to represent their organization in Western Australia.
In June BGK gave Stefania approval to apply with the Australian Department of Health under their name. “I was over the moon. After a year of advocating for an awareness month and being told no, in July 2018 I was told YES!!” September is the official global awareness month for Hirschsprung’s disease thanks to Stefania's relentless efforts.