Alice Bast didn't have luck on her side. Starting around the age of 26, she just kept getting sicker. She had constant diarrhea, chronic migraines, extreme fatigue, canker sores, and bloating, and her fingers and toes tingled.
"I would go to the doctor for my GI issues," Bast remembers, "but they treated me for that symptom, rather than looking at a cause."
Medication seemed to help in the short-term, despite her lack of a diagnosis, and she began to feel OK. That was when she got pregnant, and her GI symptoms made a raging comeback.
"I knew something was wrong," she says. "But the doctors kept telling me everything seemed fine."
Tragically, Bast's instincts proved correct: In utero, her baby eventually suffered from a condition called intrauterine growth restriction, in which the fetus grows at a very delayed rated or ceases growing altogether. While the reasons can range from infection to high blood pressure, the cause in her case was unclear.
At nine months pregnant, she delivered a stillborn baby.
Her heartbreak was unbearable, but Bast pushed on, desperate for another child. She went on to grieve three miscarriages in a row — their causes all indeterminate.
Finally, she got pregnant with an embryo that stuck and would eventually become her daughter Linnea. But her pregnancy was far from smooth. She was put on bed rest for the last 2.5 months, required an emergency C-section, and delivered a 2-pound baby.
"[Linnea] proceeded to grow stronger and I proceeded to grow weaker," Bast recalls. "I am 5-foot-9 and ended up 105 pounds."
Bast knew she needed answers, but no one was providing them. Her ob-gyn was so weary of her mysterious case that he even told her she would have to find another doctor if she got pregnant again.
As she bounced from doctor to doctor, they told her she had postpartum depression or irritable bowel syndrome. Of the many gastric and blood tests she underwent, nothing showed up.
"People have diarrhea," one doctor told her condescendingly.
Her concerns went ignored until she visited the dentist one day. He took one look at her mouth and told her there was something seriously wrong with her. Her teeth were brittle, her gums bleeding.
Meanwhile, her GI doctor had put her on a high-carbohydrate diet, which made her symptoms spiral out of control.
"I couldn't even walk around the block without having to run to the bathroom," she says.
Recounting her troubles to a friend who was a veterinarian, Bast received advice that would change her life: "Sometimes animals have trouble with grains," her friend said. "Ask your doctor to test you for a disease associated with gluten. It's called celiac."
By this point, Bast was 34 years old and meeting with doctor number 22, another GI specialist. She told him her friend's suspicions about celiac disease, an autoimmune disorder triggered by consuming the gluten protein, which is found in wheat, barley, and rye.
When a person with the disease eats gluten, it triggers the immune system to fight back, leading to damage in the intestine; nutrients have a harder time getting absorbed and symptoms like diarrhea, vitamin deficiencies, and malnutrition are common.
Despite Bast's insistence that she was a candidate for testing, the doctor at first denied her, telling her she was "too tall" to have celiac, citing a common misconception that celiac always shows up initially in childhood and stunts the child's growth.
But Bast begged him for the simple blood antibody test that can diagnose celiac.
"Here's my arm," she told him. "I've had every other test known to man."
Sure enough, the test came back positive. She then had her first endoscopy, a procedure in which a camera attached to a tube explores a person's digestive tract, to confirm the diagnosis.
"I was so relieved," Bast says. "I thought I was dying of cancer."
Doctors didn't know it then, but left untreated, the disorder is now known to be associated with reproductive health struggles like hers, in addition to anxiety, depression, thyroid disease, and osteoporosis. Bast suffered from all of these except osteoporosis.
"For many women, unexplained infertility is the only sign of undiagnosed celiac disease," says Michelle Pietzak, MD, an assistant professor of clinical pediatrics at the University of Southern Keck School of Medicine, and head of the Division of Pediatric Gastroenterology and Nutrition at Los Angeles County Hospital. "Some studies indicate that celiac disease may occur in as many as 4 to 8 percent of women with unexplained infertility."
Specific genes may confer a higher risk of developing celiac — but it doesn't just show up in childhood. Environmental triggers such as pregnancy, surgery, infection, or severe emotional distress can trigger the onset of the disease. In Bast's case, her doctors now suspect that a parasite infection she got on a trip to Mexico around the age of 26 triggered it, though no one can say definitively.
About 1 percent of the U.S. general population suffers from the disease, though Pietzak says that around 83 percent of those people are not currently diagnosed or are misdiagnosed with conditions like irritable bowel syndrome and lactose intolerance.
"As soon as I went on a gluten-free diet, I started to feel better and better," Bast says.
But when she was diagnosed back in 1994, the availability and affordability of gluten-free food was limited and she had to order some from Canada. Eating out was practically impossible.
Bast's background was in business development, and with her newfound lifestyle, she set out to improve the food options and raise awareness for patients like herself. She went back to school to gain expertise in running a non-profit, then launched her now-famous foundation called Beyond Celiac.
Thanks in part to her efforts, gluten-free food has become mainstream. The organization is also heavily involved in promoting further research about this serious genetic disease.
Today, Bast is doing well managing her symptoms, though not perfectly. Even though she advocates for herself in restaurants, she still gets served gluten once or twice a month, which can lead to a burning sensation on her skin, stomach upset, and migraines. It can be socially isolating to follow such a diet, she says, but "it's worth it to be able to restore my health as much as possible and get back to living."
And to get one's fertility back.
"Doctors have observed that many women successfully conceive after a year or more upon receiving a diagnosis, maintaining a strict gluten-free diet, and taking vitamin supplements," Pietzak says.
Bast and her foundation are looking ahead toward the biggest payoff of all: They have set out to cure celiac. Luckily, there are a few drug treatments being developed that could potentially replace or supplement a gluten-free diet, and clinical trials are underway.
Until then, Bast advises people who suspect they might have celiac to get tested by a doctor and not just try cutting out certain foods on their own, without proper medical instruction. For those struggling to adapt to new dietary restrictions, she offers reassuring words:
"Embrace a gluten-free diet. The world is a lot better than it was 25 years ago. You can do it, and there's hope for the future."
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. If you've endured a medical mystery and want to share your story, email Kira at firstname.lastname@example.org.