ROYAL OAK, Mich. – Alysun Fulks of Oxford, Mich., had never heard of Hirschsprung's disease until she went out to eat with the coworker who is now her husband.
"We went out to lunch, and he excused himself a few times to use the restroom, and I asked him if he was ok, and that's when he explained to me the whole story of Hirschsprung's disease," said Alysun Fulks.
It's a story Jeremy Fulks has been telling since he was diagnosed as a young child.
"I had issues eating, I had issues going to the bathroom, and they didn't really know what was wrong," said Jeremy Fulks. "Finally it was diagnosed that I did have Hirschsprung's disease."
Dealing with a chronic disease is always challenging, but living with a disease that most people have never even heard of adds an extra hurdle.
Hirschsprung's disease occurs when the nerves that should be found in the muscles of the colon are partially or completely missing. Without those nerves, the colon can't move stool through the bowels normally. If the entire colon is affected, it's called total colon Hirschsprung's disease.
Experts say Hirschsprung's disease occurs in about one in five thousand births. The most severe cases are diagnosed soon after birth, but when a very short segment of the colon is affected, it might go undiagnosed until the child is older.
"Most of the time, it's diagnosed within the first couple days of life. Most kids should pass their first stool within the first 24 hours. If they don't, then we start to suspect a problem," said Dr. Begum Akay, a pediatric surgeon at Beaumont Children's Hospital in Royal Oak. "If it's not in the early period, then we find it later with really bad constipation. Or they can actually get really bad colon infections from it. Once we have that diagnosis, the key is to remove that portion of the large intestine and pull through the normal intestine."
Jeremy Fulks had an older version of that surgery as a child, but struggled with symptoms growing up and still occasionally suffers stomach issues. When he and Alysun decided to start their family, they were concerned.
"There was definitely a possibility that if we had kids they would have Hirschsprung's disease," said Jeremy Fulks. "They say it's about a 20 percent chance in total colon Hirschsprung's parents."
When son Benjamin was born without the disease, they were relieved.
"Everyone was so happy," said Alysun Fulks.
At first, son Ethan also seemed to be fine.
"I was transitioning from breastfeeding to formula feeding and almost the minute that Ethan started to get formula, he stopped having any bowel movements," said Alysun Fulks.
Their pediatrician didn't think Hirschsprung's was to blame.
"It's such a rare disease that pediatricians just automatically believe it's not that. It's something else," said Jeremy Fulks. "I felt like I knew, I knew it in my heart. I just knew, you just know. As a parent, when you have children, you just know when things are wrong."
With Ethan getting sicker and sicker, his parents decided to change doctors. A biopsy confirmed their fears.
"I just held him and cried," said Alysun Fulks. "We knew it wasn't gonna kill him, but we didn't know what was in store at all for us."
Ethan underwent 13 hours of surgery when he was just ten weeks old. He needed a ileostomy bag to collect waste outside of his body until he could have another surgery at six months.
"We were in the hospital ten times in the first year and a half, almost two years of his life," remembered Alysun Fulks.
After his last surgery, a friend gave them a special onesie to mark the milestone. It read, "That's right... I can poop!"
In the midst of Ethan's health problems arrived baby Jack.
"A wonderful, amazing blessing," said Alysun Fulks. "But at first, we were terrified. Absolutely terrified."
At three days old, Jack was diagnosed with Hirschsprung's too. He also needed two surgeries, but has avoided most of the complications that have plagued Ethan.
Both boys still face challenges.
"The kids who have lost all their colon because of the disease can have somewhere from six to ten bowel movements a day," said Akay.
Constipation, diarrhea and leakage are also a risk. Most symptoms do improve as children get older and their bodies adapt.
"They have to be potty-trained to go to kindergarten. That'll be a challenge," said Alysun Fulks.
They worry about teasing and bullies. But Alysun and Jeremy have found encouragement from the "Hirschsprung's Community" Facebook page.
"There's a whole community out there, and it's not just me. There's people all over the world that are going through this," said Jeremy Fulks. "I think it's helped us. I'll tell you it's been great advice for us."
They're taking the challenges in stride, armed with humor and experience.
"There's one thing I know is that they'll get through it, and they can grow up to be whatever they want and be successful. They can find a beautiful wife like mine," said Jeremy Fulks. "It's maybe tougher for them as children. They're gonna outgrow this and have normal happy lives."
To learn more about Hirschsprung's disease, visit the Mayo Clinic's website or the official site of the National Organization for Rare Diseases.