Bayou family helps battle mystery illness

Posted: Wednesday, March 3, 2010 8:01 pm
By: AP

By NIKKI BUSKEY
The Courier
HOUMA, La. (AP) — They just called it “the sickness”. Hands, feet, face, stomach and even the throat would swell up like balloons, causing misery at best and a hospital trip or even death at worst.
Generations of Janet Robichaux’s family grew up with that swelling and abdominal pain. Her twin sister, Janine, and their mother, Mary, died of complications related to the ailment, called hereditary angioedema.
“It originated in my mother’s family,” said Robichaux, 53, of Montegut, La. “Growing up, people in my family were just sick. You didn’t go to the doctor. We just accepted it.”
The genetic disease affects fewer than 200,000 people in the United States. Robichaux said that when she was diagnosed in the 1970s, it had been diagnosed in only 30 families and doctors were just learning how to treat it.
Robichaux’s sister had weekly attacks. Robichaux was afflicted every two to three weeks.
“We had extremity swelling and swelling in the abdomen that would cause you to vomit and be very sick,” Robichaux said. “For 48 hours, you would just be miserable. My poor dad would be in a bind sometimes with the three of us all miserable.”
They learned the cause after Janine Robichaux went to work in a medical office in Houma. Coworkers suggested she get checked out. Dr. William Summerlin took an interest.
Blood tests at the National Institute of Health in Bethesda, Md., put a name to their sickness.
Sufferers have a genetic defect that causes low levels of an important blood protein, said Dr. Henry Li of AllAboutHAE.com. The protein, called C1-inhibitor, regulates and turns off certain reactions in the body. Low levels of the protein can result in recurring and sometimes life-threatening swelling, Li said.
The attacks occur spontaneously, but anxiety, stress, minor trauma, surgery and colds or illness can act as a trigger.
All three were put on an experimental and expensive treatment. Thanks to the drug, Robichaux said, she’s had just 10 attacks in 34 years.
But it doesn’t work well for everyone, however. Her daughter, also diagnosed with the disease, still has regular attacks. Another daughter didn’t inherit the disease.
Because the disorder is so rare, many people go decades without being diagnosed. Some are told the frequent abdominal pain is psychological, Robichaux said. Others undergo unnecessary exploratory surgeries. Robichaux said her sister had part of her colon removed as a teen.
Misdiagnosis or lack of knowledge about the disease can lead to deadly complications because medical trauma and illness often trigger attacks.
Robichaux urges those who suspect they have HAE to seek testing.
To educate herself and others about the disease and available treatments, Robichaux attended the HAE National Patient Conference, held in October in Orlando, Fla.
“I met so many people from all over the country with HAE,” she said. “They all had so many stories to tell. Unfortunately, a lot of those were stories of lost loved ones who were misdiagnosed and not treated correctly.”
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On the Net:
Hereditary Angioedema Association: www.haea.org
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Information from: The Courier, http://www.houmatoday.com
Published in The Messenger 3.3.10