For years before the identity of her long-standing problem was revealed, Hannah Love’s family had its own name for the periodic, disabling episodes: “Hannah’s stomach thing.”
The attacks, which first struck when she was 3, would gradually progress from discomfort to a crescendo of sharp pains to an abdomen so swollen she could not bear the touch of clothing. Nausea and vomiting invariably followed.
“Usually I would lie down in front of the TV with a bowl until it passed,” recalled Love, now 38. Between episodes, which lasted 24 to 48 hours and occurred on average every few weeks, she was fine.
Doctors initially shrugged off the problem, figuring it would pass. They prescribed drugs that didn’t help and ran tests that found nothing. After conventional medicine provided no answer, her family turned to a host of alternative therapies that proved equally useless.
“It was humiliating to not have a name for something that was so clearly present in my life,” recalled Love, an associate editor at the University of California Press in Berkeley who grew up in nearby Oakland. “I was thinking, ‘How could they believe me?’ ” Doctors had told her parents that they thought the problem was psychological; one doctor suspected she was bulimic, which Love vehemently denied.
So when, at age 17, she learned the name and cause of the problem that had dominated her life, Love was surprised to feel oddly disappointed.
“I was sort of like — what? All those years and it was just a blood test?” she recalled telling her mother. The doctor who ordered the test remembers his distinctly different reaction. “I probably had ordered this test 10 times, but hers is the only one that came back positive,” said Ronald Adler, a retired gastroenterologist who remembers the details of Love’s case more than 20 years later. “I was relieved and happy that at least we had an answer. I remember being more worried about how to treat it.”
Until she was 6, Love said, her pediatricians didn’t do much except offer advice about possible symptomatic relief in the hope that the problem, whatever it was, would go away as she got older. Antibiotics didn’t help, and Love was growing normally so it didn’t seem likely that she had a malabsorption problem. A specialist suggested an endoscopy, a procedure that involves threading a tube down the throat and into the stomach to inspect the upper GI tract, which Love’s mother vetoed because she considered it overly invasive.
Frustrated by the lack of progress, Love’s mother turned to alternative medicine.
For the next several years, until she was about 11, Love received various unconventional treatments. She saw a homeopathic physician who treated her with herbs and other substances. She underwent biofeedback, psychic healing, nutritional treatments and Reichian therapy, which involves massage and breathing exercises.
All failed, although the homeopath noticed that Love exhibited “rebound” abdominal tenderness: pain when pressure is released, not applied. Most commonly a sign of appendicitis, which had been ruled out much earlier, it can also indicate swelling.
Because most of the practitioners saw her only when she was well, “they tended to interpret my symptoms in a diffuse way,” she said. But Love and her family, exquisitely attuned to her “stomach thing,” had discerned patterns: attacks seemed linked to stress, excitement and fast food.
“We were the experts,” she recalled. “We knew how to get through the attacks, how to inform my school and teachers. We knew that travel, sleepovers, parties, all came with the risks that I could become sick.”
Her robust health between episodes added to the diagnostic confusion. It also “made denial a little easier than with some chronic conditions, because no matter how many times I would get sick, in the back of our minds there was this constant hope that maybe it wouldn’t happen again,” Love said. As she got older and became more embarrassed by her illness, she tried to hide it, which was difficult given her frequent absences from school.
Around age 13, her mother began taking her to a new round of specialists. One recommended exploratory surgery for a possible intestinal obstruction, although a CT scan later found none. A pediatric gastroenterologist suspected Meckel’s diverticulum, a small vestigial bulge in the intestine that can cause pain and swelling, which was also ruled out. A third suggested that her problem was an abdominal migraine, whose stomach symptoms mimic those felt in the head. Love’s mother rejected the doctor’s recommendation that her daughter take potent drugs to combat it.
When she was 15, Love developed a new symptom: the abdominal attacks were accompanied by swelling in her hands, feet and, more ominously, her throat.
A rheumatologist was stumped and sent her to an allergist; food allergy testing detected only a mild sensitivity to wheat. The allergist referred her to Adler, a new gastroenterologist, for a colonoscopy. The day she saw him in May 1990, Love was recovering from an attack and sported a circular red rash on her chest.
“I think in gastroenterology, unexplained abdominal pain is attributed to irritable bowel syndrome,” Adler said, recalling that he immediately ruled out this catchall diagnosis. “People with IBS are never quite satisfied with their digestive function,” he said. By contrast, Love felt fine between attacks.
“That was the tip-off,” Adler said. So was the rash.
Adler told Love and her mother that he wanted to hold off on the colonoscopy and order specialized blood tests. From his earliest days in practice, Adler said, he always carried “a short list of exotic things” tucked in the back of his mind in case more common causes didn’t explain a patient’s problem.
The blood test showed what Adler suspected. After 14 years, “Hannah’s stomach thing” finally had a scientific name: hereditary angioedema, or HAE, a serious disorder marked by swelling and caused by a deficiency in a blood protein called a C1 inhibitor.
The disorder, which often surfaces in childhood, was once called angioneurotic edema, because doctors erroneously thought it had a psychological cause. First described in 1882, angioedema most often affects the gastrointestinal tract; in some patients it can cause swelling so dramatic that it resembles the late stages of pregnancy. Death can result if throat swelling occurs and emergency treatment isn’t administered in time. And in about 30 percent of patients, a non-itchy rash accompanies a swelling attack, which can be triggered by stress.
There is no cure for the condition, which affects about one in 50,000 Americans, according to the Genetics Home Reference. Although most cases are familial, about 20 percent, Love’s among them, occur as the result of a spontaneous genetic mutation. The child of a person with HAE has a 50 percent chance of developing it.
When her mother called with the news, minutes after she had spoken to Adler and learned the diagnosis, Love said she was stunned. “More than anything, I remember not believing her,” she said. “At that point, I thought there was no way we were ever going to figure it out.”
The news was bittersweet, because there is no cure for HAE and treatment options were so limited. Adler prescribed one drug that didn’t help. Love, who was about to go to college in Massachusetts, decided against the only other possibility at the time: long-term corticosteroids, which carry a host of side effects, including weight gain and mood swings. “I had come that far living through the attacks, and I wasn’t going to do it,” she said.
She joined the National Organization for Rare Disorders, a support and advocacy group, and met other HAE patients, which she said greatly helped. “It didn’t seem possible that anybody had been living the same bizarre reality I had,” she said.
Over the years Love has been involved in clinical trials of various experimental drugs. For the past four years she has self-administered infusions of Cinryze. The prophylactic therapy has largely eliminated Love’s attacks, but it remains one of the world’s most expensive prescription drugs, according to Forbes; a year’s supply costs about $350,000. Love said her insurance covers the cost. Before the last year’s federal health-care overhaul law abolished lifetime caps on coverage, she worried about burning through her $2 million limit.
Her 16-year-old son, she said, has tested negative for the disorder, while her 10-year-old daughter shows no signs of the problem but has not yet been tested.
Love said that despite her ordeal, she doesn’t wish she had been spared the disorder that has shaped her life. “I gained a lot of attributes having to live with it and through it,” she said. “It definitely made me who I am.”