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Family raising awareness about condition signaled by difficulty to pass stool

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2.3 from 3 votes
Sunday, June 01, 2008

Kristi Porter of Vicksburg gave birth to a seemingly healthy baby boy Jan. 2 at River Region Health Systems.

But less than two months later, her only child, Jaylen Porter, lost a battle with a rare disease that claimed his life Feb. 27. Now Kristi and her family, including her sister Kathryn Nelson of Byram, are raising awareness about Hirschsprung`s disease.

"My little nephew, Jaylen Porter, looked healthy when he first came home from the hospital," Nelson said. But the family soon realized that something was wrong when little Jaylen did not pass stool for three weeks. He survived three surgeries and five weeks in intensive care, but wasn`t able to fight off a deadly infection.

As the family shared their tragic experience with others, they got the same response over and over. "People would ask us, `What`s Hirschsprung`s?` " Nelson said. "No one had heard of this disease."

Hirschsprung`s disease, also known as megacolon, is a congenital disorder caused by the absence of nerve cells, called ganglia, in the wall of the colon. This interferes with the squeezing action, which normally moves stool through the intestines.

The words make some people uncomfortable: bowel, rectum and stool. But for many children and adults with gastrointestinal motility disorders or anorectal malformations, like Hirschsprung`s disease, these words are a daily reality and often a lifelong struggle.

"Discussing conditions like Hirschsprung`s is important for the emotional health of the families dealing with the conditions and for public education" said Bobbie McElroy, executive director of the Pull-Thru Network.

Pull-Thru Network is an international support organization for parents and kids with a variety of bowel and bladder-related conditions. Run by volunteers from McElroy`s Alabama home office, it has a diverse board of directors that includes a representative in Hattiesburg. With 700 members worldwide, the network is a major resource for medical information and emotional support for families dealing with anorectal malformations.

In severe cases, like Jaylen Porter`s, a newborn may experience an obstructed colon and not pass meconium, an infant`s first bowel movement within the first 24 to 48 hours of life. In mild cases, doctors may not detect the disease until later in a child`s life. Symptoms include constipation, abdominal swelling and vomiting. For older children, passing small watery stool, diarrhea and a lack of appetite might indicate Hirschsprung`s disease.

"The most profound symptom with this condition is trouble passing stool," said Dr. Christopher Blewett, chief of pediatric surgery at the University of Mississippi Medical Center in Jackson. "Hirschsprung`s disease is usually discovered in the neonatal period or within the child`s first year."

Blewett noted the condition is rare: about one in 5,000 births each year. "I`ve only seen four cases since February."

Diagnosis can involve several steps. "A barium enema X-ray test is the first step in diagnosing Hirschsprung`s. After that, we take a biopsy of the lining of the rectum," Blewett said. Older children also may undergo a painless test called anorectal manometry, a procedure that measures pressure in the anal canal, to confirm the biopsy.

Once Hirschsprung`s disease is diagnosed, surgery is the primary treatment option. "In the past, three separate operations were necessary. Today, we can do a single operation in most cases," said Blewett.

Called a pull-through, surgeons remove the affected part of the colon and then join the healthy segments. Some patients require a colostomy, where the colon is brought out to the surface of the abdomen, so that stool contents can be discharged into a special bag. This is often a temporary step, but some patients may be fitted with the colostomy permanently.

According to Blewett, the survival rate for Hirschsprung`s disease is about 90 percent and only a small number of patients experience major complications after surgery. Prompt diagnosis and early treatment are crucial.

"Usually by the teen years, problems have started to subside and patients get into a more normal life pattern," Blewett said.

McElroy stressed that conditions like Hirschsprung`s disease often require long-term management. "Even with great surgery, it doesn`t necessarily cure the condition. The kids are still managing it for the rest of their lives whether it`s watching their diets or using laxatives and enemas."

The Pull-Thru Network publishes a quarterly newsletter that covers the latest research, new procedures, bowel management programs, personal stories and helpful hints on everyday care.

"Through the articles and personal stories, we`re able to remind parents that their kids are typical children and that they can lead healthy, happy lives," McElroy said. "For older children and young adults, the newsletter helps them remember that they are different, but they are not alone and they can attend school, play sports and do the same things other kids do."

For Nelson and her family, they are coping with their loss day by day. But they`re also taking action. They want to educate the community at large, so other families are aware Hirschsprung`s disease exists and know what to watch for.

"We`re sending information to newspapers around the state and churches in Vicksburg and Jackson," Nelson added. "We want the public to be educated, so maybe another life can be saved."

McElroy agreed. "Living with a condition like Hirschsprung`s is nothing to be ashamed of. This is not a family secret. We have to increase awareness and generate a dialogue."

©2007 The Clarion-Ledger

 

Author: By Jennifer Spann
Source: The Clarion-Ledger
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2.3 from 3 votes
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