Risk at 1:3500

Rare disease strikes three times in a family

Like his brother Jonas, Nico (left) suffers from Hirschsprung's disease.

(Bild: Horst Einöder/Flashpictures)

To mark Rare Disease Day, the "Krone" visited a family where two boys and their father suffer from the same bowel disease. In a very personal conversation, the people affected explained what this means for everyday life and what the dangers of this condition are.

In 15,000 births, only three to five children are affected, and the disease is congenital: Hirschsprung's disease. Behind the unwieldy word lies an intestinal disorder - the Lepoldseder family from Haid knows what this means in practice. 

Colon was too large
The "Krone" is greeted at the door by a lively boy, who you wouldn't know from looking at him that he is ill. "When Jonas was born seven years ago, he didn't throw up," says mom Tina (35). This is the baby's first stool, which accumulates during pregnancy.

Although it was known that dad Jan suffered from an intestinal disease, Hirschsprung's disease had not been diagnosed. The baby's vomit came after 48 hours, but in the form of vomit. Numerous examinations followed - with the result that Jonas' large intestine was closed.

A stoma was inserted shortly after the birth

(Bild: Leopoldseder)

Infant was given a side outlet
He had to be emptied several times using a bowel tube and his condition deteriorated rapidly. "On the seventh day, he vomited in the jet," says the mother. The infant underwent a six-hour operation to insert a stoma - colloquially known as a side outlet.

Entire colon removed
The bag, which was huge for Jonah's tiny body, had to be changed up to 15 times a day. It kept detaching from his body, causing stool to leak out and lead to inflammation. After 14 months, the side outlet was removed - as was the entire colon.

Nutella

Jonas, gefragt nach seiner Lieblingsspeise.

Going to the loo as a challenge
"Since then, Jonas has had many bowel movements a day and diarrhea, which is why he doesn't want to go to the loo at school. As an entire section of his bowel is missing, his stools are very 'sharp', which often leads to sore bottoms and requires special care," says mom Tina. The family also had to get to grips with food. When asked about Jonas' favorite food, he answers like a shot: "Nutella."

Danger of intestinal obstruction
If they don't go to the toilet, there is a risk of bowel obstruction, "but it's working quite well at the moment", the parents hope. When the couple were thinking about having a third child, they learned that "only two percent have this disease and we shouldn't worry about it". Four years later, Nico, now three years old, was born on Christmas Day.

Facts & figures

February 28 is Rare Disease Day. In Hirschsprung's disease, the affected sections of the intestine lack the control centers that transmit the "open up" signal. There is a risk of dangerous bowel obstructions. "The aim of treatment at the Department of Pediatric and Adolescent Surgery at Kepler University Hospital Linz is to achieve normal defecation while preserving the organ," explains Senior Physician Johanna Ludwiczek.

Second boy also affected
"When I saw his bloated stomach, I knew immediately that he was also affected," says mom Tina. A side outlet was inserted on his second day, but only ten centimetres of bowel had to be removed. Since then, mom Tina has been sharing her knowledge with other sufferers in a mentoring program: "Unfortunately, the course of the disease is different for everyone, which makes it so difficult for parents."