When she was 27, Denver resident Lynn Holman woke up one day to discover that her hands looked like splotchy pink claws. They were so swollen she couldn't bend her fingers. "They didn't look human," she remembers. "Nothing like that had ever happened before."
It was a Friday and she was in the middle of moving residences, but there was no way she could continue packing in that condition. She called her doctor "freaking out." Assuming that she was having an allergic reaction, he told her to take Benadryl and wait. But with no improvement through the weekend, she showed up at his office on Monday morning. He gave her a powerful antihistamine shot, but still it took five days for the swelling to go away.
Lynn called her sister to relate the horror story and learned something shocking: Her sister had experienced the exact same thing — right after she got pregnant.
"I said, 'Oh my gosh, I could be pregnant,'" Lynn recalls. She ran out to take a test — and to her utter surprise, she was. She quickly called her doctor, who seemed content to let that serve as an explanation; all sorts of weird things can happen when you're pregnant, he told her.
Frustrated, Lynn and her sister called their mother to ask if she had ever heard of such a bizarre symptom lasting for days after getting pregnant. Sure enough, their mother reported that their grandmother throughout her life had regularly experienced pink swollen areas of soft tissue, like in her arms, thighs, or breasts. Their grandmother called it "my stuff" and got "nerve pills" from her doctor to calm her down during flare-ups. "She went through a whole series of people thinking she needed psychiatric care, thinking it was all psychosomatic," says Lynn.
The information was intriguing, but not helpful, since her grandmother never received a diagnosis. So Lynn went on with her life, until six weeks later when the same symptoms struck again in her hands and upper arms. The pattern continued every four to six weeks. Eventually, she tired of calling the doctor, who always told her to take Benadryl, which did nothing.
After a year, the flares got worse: They became internal. Her bowels swelled to the point of making eating painful. At one point, she was hospitalized with an IV drip. X-rays showed that big pockets of water had collected around her organs — up to two gallons of fluid — but still, the doctors couldn't explain why. They could find no growths, tumors, or other abnormalities.
For the next five years, she continued to suffer regular attacks of swelling, both internal and external, that would last close to a week. All she could do was drink fluids and wait it out. She tried painkillers, anti-inflammatories, and anti-histamines, with no relief. There was never an explanation, until one day her sister called with some surprising news.
"You know that stuff we have?" her sister said on the phone. "Well, I found a tiny article in the newspaper about hereditary vascular angioedema. It's exactly what happens to us."
Hereditary angioedema (HAE) is an ultra-rare genetic condition that occurs in about 1 in 50,000 people. It's passed autosomal dominantly from parent to child. This means that if your mom or dad has the gene, you have a 50 percent chance of inheriting it and having the disease. Sufferers don't produce enough of a crucial regulatory protein called C1-inhibitor, according to Dr. Sandra Christiansen, a professor of medicine at the University of California at San Diego, and the director of translational research at the US HAEA Angioedema Center. "Think of it as you're lacking a braking system," Christiansen explains. "In this case, swelling gets set in motion, and once that is triggered, fluid starts to leak out into tissues and you have nothing to stop it."
Often, the disease will first show up in puberty or when a woman starts taking birth control, though it can strike any gender. Increases in estrogen appears to precipitate flare-ups — like during pregnancy. Diagnosis can take as long as nine years. Before awareness of the condition spread among health care providers more recently, the average diagnosis was 25 years.
After getting off the phone with her sister, Lynn made an appointment with a specialist at the Mayo Clinic in Scottsdale, Arizona to confirm her suspicions via simple tests, which check the levels of functional C1 inhibitor protein along with complement IV in the blood. The day of her appointment, swelling broke out under her arm. She showed the doctor, and he told her what she'd heard a hundred times: It looks like an allergic reaction.
But she protested and explained her suspicions about hereditary angioedema. "He told me, that's not what it is, nobody has that," she recalls. "So I said, would you just test me anyway? That's the closest thing I've been able to find." The doctor was already planning to run a bunch of tests for other diseases, including ovarian cancer, so he agreed to add those blood tests in.
When the results came back, he called her right away. "I owe you a huge, huge apology," he said. "You absolutely do have that."
As much of a relief as it was to finally get diagnosed, the next words out of the doctor's mouth deflated her. "There's not a lot of anything you can do but live through it," he told her.
So Lynn joined a support group and learned more about the potential severity of the disease. After years of being dismissed by ignorant doctors, the community's validation was everything.
"When people have told you it's allergies or psychosomatic, or it's a nonissue, you begin to question your own sanity," she says. These days, Lynn, now 60, is experiencing fewer episodes now that she has passed menopause. They strike every 6-8 weeks. The same is true for her sister.
"It's annoying but it is getting better," she says. "My biggest prayer is that my kids don't have it. And my grandkids." So far, two of her three children don't appear to be affected at all. One daughter experienced swelling in her hands around the time her period started, but has shown no symptoms in the 15 years since.
Five novel therapies have been developed since 2008, but their costs can be prohibitive. Lynn was told that one of the drugs would cost $900,000 a year. So she lives with her symptoms — and she stays close to an ER in case her airways ever swell shut.
The most frustrating part over the years, aside from the physical discomfort, has been the lack of a sympathetic and knowledgeable medical professionals, especially in light of how dangerous the disease can become. "I think about people with this who are not diagnosed — and don't understand that swelling could kill them," Lynn says. "If you know there's something wrong with you, don't let any medical professional tell you you're crazy." It just might save your life.
Kira Peikoff is the author of No Time to Die, a thriller about a girl who mysteriously stops aging. It is available now. Connect with her on Facebook or tweet her @KiraPeikoff.