Zachary's Story: Hirschsprung's Disease

By the time they arrived in the office of pediatric surgeon Allan Goldstein, MD, at MassGeneral Hospital for Children (MGfC), the Ostrowski family had seen their toddler through numerous surgeries, misdiagnoses and a fever that almost cost him his life.

“We walked in, he took the x-ray right from our hands in the middle of the office and he said, you don’t have to take him any further,” Kristy Ostrowski recalls of the first meeting with Dr. Goldstein of MGfC’s Neurogastroenterology Program, in 2007. “He has kept to this promise from the day we met him. When Zach is sick, he is who we call.”

Kristy and John Ostrowski were living in Delaware when their second child, Zachary, was born. They knew at 26 weeks of gestation that Zachary had Down syndrome, a genetic condition that occurs when an individual has an extra copy of the 21st chromosome. But it wasn’t until Zachary was 7 weeks old that the Ostrowskis learned their son also had Hirschsprung’s disease.

Hirschsprung’s disease is a serious disorder of the bowel caused by the absence of nerve cells in the large intestine. Where these nerves are missing, content within the intestine cannot pass through and creates a blockage. Though significant advances have been made in the treatment of the disease, it creates many challenges for patients affected. 

Treatment for Hirschsprung’s disease, which affects 1 in 5,000 children worldwide, typically includes surgical removal of the part of the intestine that has no nerves, but in many cases, including Zachary’s, patients require additional treatment.

Zachary, who turns 6 this May, faces an additional challenge due to his genetic condition.

“Hirschsprung’s disease is out there, but having Down syndrome intensifies it because it’s harder to treat,” Mrs. Ostrowski says. Down syndrome is associated with lower muscle tone, she adds, so bowel movements are already more difficult.

“The extra chromosome just throws everything for a loop,” she adds.

Difficult Decisions

Zachary’s first consult with Dr. Goldstein led to a three-day stay at the hospital for testing, confirming that more of Zachary’s colon needed to be removed.

Zachary has since met Dr. Goldstein in the operating room for more than a dozen surgeries, including removal of parts of his colon and an ileostomy, or an opening in the colon that allows waste to exit the body through a shortcut into an external bag, and the reversal of the ileostomy.

The surgeries afforded Zachary relief for a time, but like many with Hirschsprung’s disease, he struggled again with dysfunction of the colon and ensuing abdominal pain.

Last fall Zachary began suffering extreme abdominal pain. The Ostrowskis called Dr. Goldstein.

“He cares about Zachary and Zachary’s well being,” John Ostrowski says of Dr. Goldstein. “It’s amazing to get a doctor who will reach out that extra mile, call me odd times, odd hours, receive calls.”

Dr. Goldstein follows a strict algorithm to determine the source of the problem when surgery is ineffective. He makes sure the remaining colon has nerve cells, that there is no mechanical obstruction of the colon, for example a twisted segment; that the muscle that closes the anus, the sphincter, isn’t too tight; and that behavioral problems are not the source of the patient’s problem.

Dr. Goldstein eventually recommended another ileostomy for Zachary, who had also undergone less invasive treatments including rectal irrigations to cleanse the colon and injections to relax the sphincter, without success.

“In his case there was no mechanical obstruction, there were normal nerve cells in the rectum, it just seemed that the colon had absolutely no function,” Dr. Goldstein recalls. “That’s a very frustrating problem because there’s not much that we can do for it,” he says, adding that that frustration is part of what originally prompted him to study Hirschsprung’s disease.  

Zachary’s parents struggled with the decision for another surgery, but ultimately agreed that an ileostomy would be the best route.

John Ostrowski says of Dr. Goldstein, “He’s also been great as far as listening to our thoughts, our opinions, our fears, and not just from a surgeon/parent relationship; he really wants us involved on the medical side as much as we can.”

Wonderful Turnaround

Zachary was back at school five days after surgery to visit his friends because he felt that much better.

“Zach is doing amazingly well and has gained probably 5 lbs since November and the pain has completely gone away,” Mrs. Ostrowksi says. “It was very debilitating pain, it even just crippled our family and now, Zach is so, so comfortable and so happy. We owe it all to Dr. Goldstein.”

While Zachary and his 3-year-old brother chased one another, absorbed in their toy trucks and exploration, Kristy Ostrowski adds: “It’s been a wonderful turnaround for him and for us, for our whole family.”

The Ostrowskis also speak highly of the rest of Zachary’s care team, including pediatric nurse practitioner Julie A. Piotrowski, RN, MSN, PNP-BC.

“She’s been wonderful; the nurses on Ellison 17 have been far superior to everything that we’ve experienced,” Mrs. Ostrowski says, adding, pediatric nurse “Kristin St. Pierre, [RN, MSN, FNP] she has been amazing as well. They’ve just been outstanding.”

Giving Back

Shortly after Zachary began receiving treatment, the Ostrowskis decided to give back to Dr. Goldstein and his clinic. As both Kristy and her husband are athletes, they put together a team for the 2009 Reach The Beach (RTB) Relay, a running event that crosses about 200 miles of New Hampshire. Team members run various legs of the route.

The Ostrowskis ran a total of 50 miles over the two-day event and their team members crossed the finish line together. “They all met me with about 10 yards to go,” Kristy Ostrowski remembers. “They handed Zach to me as we crossed the finish line.”

The Ostrowskis’ team raised close to $8,500 for Dr. Goldstein’s clinic and they hope to assemble a team for the 2012 event.

This year the Ostrowskis will also participate in the first REACH Symposium (Research, Education, and Awareness for Children with Hirschsprung's disease) at MGfC. The conference welcomes physicians, researchers and parents for a discussion of important and up-to-date clinical and scientific topics in the disease.

“When we hit a really good patch like we are now, the thoughts and the feelings and the struggles kind of go away because you see the positive side of everything you’ve had to go through,” Mrs. Ostrowski says, adding of Zachary and his treatment: “He loves life and it’s just really nice to see. It definitely has paid off.”

John Ostrowski adds: “Mass General as a whole is the only place Zachary will get care … I really can’t think of a better decision for him than being here.”