Doctors at the University of Maryland Center for Celiac Research have received a major boost in their efforts to find new treatments, and even a cure, for the autoimmune disease — a $45 million donation that is a record for the university system.
The donation, directed by the family of a grateful patient from Indiana, was announced Thursday by the center's director, Dr. Alessio Fasano during a press conference in the University of Maryland BioPark in West Baltimore, which was attended by top university administrators, staff and some patients.
Fasano said the money will be used to create a first-of-its-kind institute that could eventually employ up to 200 doctors and researchers. They will not only study the often-misdiagnosed celiac disease but use it as a model to study other related diseases, including diabetes, rheumatoid arthritis and multiple sclerosis.
"Finding enough money is always a problem," Fasano said in an interview about the donation. "What really need for a major breakthrough is thinking out of the box, and this will allow us to do just that."
He said his research shows that the disease is not as rare as once thought. One in 133 people are sufferers, yet most still don't know that the cause of their troubles is eating gluten, a protein in wheat, rye and barley found in much of the human diet. Genes are inherited for the disease, which can surface in children and adults, and which, unlike an allergy, can't be outgrown.
Even a small amount of gluten causes an extreme reaction. The immune system attacks the body, damaging the small intestine, which means nutrients from food are not absorbed properly. The cause is a mystery, and the only treatment is eliminating gluten from the diet.
Symptoms can include cramping, gas, bloating, diarrhea and weight loss. Sufferers also can become anemic, vitamin-deficient, infertile, fatigued and depressed.
Because the symptoms aren't always gastrointestinal, Fasano said, the disease is often misdiagnosed. Only discovered in the 1940s, it would often take a dozen years or more to be diagnosed. And now, even with tests to confirm celiac disease, a lack of awareness can mean that it takes years before a doctor checks for it.
During the press conference, Dr. Jay Perman, president of the University of Maryland, Baltimore, said he expected the celiac center's researcher to collaborate with researchers across the system to more quickly bring new answers to the public about this disease, as well as many others. Dr. E. Albert Reece, dean of Maryland's School of Medicine, said the donation will surely benefit human health.
"The research enterprise we hope to build using the Cafferty's funds will enhance and expand the outstanding research Dr. Fasano and his colleagues are doing," he said. "I am confident this intensive, multidisciplinary approach will enable research to result in real solutions for patients and their families."
In the meantime, Fasano said the Internet and support groups will bring more attention to the disease, prompting more sufferers to ask their doctors about it.
It was nine years of debilitating gastrointestinal symptoms and rashes before Shelia Cafferty was diagnosed. She began to suspect wheat a few years ago. Cafferty, a nurse, put herself on a gluten-free diet, though she doesn't recommend self-treatment because it makes the disease harder to diagnose.
She continued to look for answers, going from doctor to doctor. While looking through research papers online, Fasano's name kept coming up. About a year ago, she and her husband, Ken, who works in mining in Indiana, contacted Pam King, the Maryland center's director of operations, who put them in touch with Fasano.
He took blood and discovered that Cafferty did not have the inherited genes necessary to develop celiac disease. But he was able to diagnose her gluten sensitivity.
So relieved to finally have an answer — and determined for others not to suffer — she and her husband gave $5 million to Fasano's center and steered another $40 million there from a foundation in which they're involved. The foundation declined to be identified.
"There are a lot of people like me, not getting answers," she said by phone from Indiana. She was unable to make the announcement with her husband Ken. "When you don't feel good, it impacts your activity and your daily living."
Ken Cafferty said he and his wife want their money to raise the public's and doctors' awareness, as well as to fund research into treatments and a cure for celiac disease and other autoimmune disorders. "It's heartbreaking to see someone you love suffer," he said.
Elaine Monarch, the founder and executive director of the Los-Angeles based Celiac Disease Foundation, an information provider, knows first-hand how tough it is to live with the disease, before and after a diagnosis.
Through a biopsy of her small intestine, she discovered she had celiac disease about 30 years ago, when it was considered extremely rare. (Even now, a common blood test only shows if someone has the genes predisposing them to celiac disease; a biopsy is still used to confirm the diagnosis.)
Back then, she said, the disease was so misunderstood, her doctor told her she could eat pasta and bread on the weekends. She now knows she can't tolerate any gluten, even the small amount used as binders in food or medications.
She said 1 percent of the nation's population may have celiac disease, but only a small number of them, maybe 200,000, have been diagnosed with it. She pleased that more people are getting tested and that there are a number of medical centers around the country dedicated to celiac disease research and treatment.
She said living with celiac disease has become somewhat easier because of the increasing availability of gluten-free products at supermarkets. Products made without wheat are now labeled because Fasano's research helped persuade lawmakers to pass a law, Monarch said. The U.S. Food and Drug Administration is working on standards stating when a product with minuscule amounts of gluten can be called gluten-free.
The grocery products remain expensive, but costs will likely come down when industry sees more people buying them — something that will happen with increased diagnoses, Monarch said. Already, these products are estimated to produce $1.8 billion in annual sales.
"We have to generate more awareness," she said. "If you have symptoms, go to the doctor and get screened."
Fasano, who is an advisor to the foundation, said he and others will continue research into alternative treatments. Furthest along is a fix for the intestinal defect that allows the autoimmune response associated with celiac disease. Other treatments being explored are enzyme therapy to promote wheat digestion and engineering grains that don't cause a reaction.
Researchers in related fields at Maryland will also work with the expanded celiac center to map out treatments and possibly a vaccine to prevent autoimmune diseases. Celiac disease is the only autoimmune disease for which there is a known trigger, gluten, making it a good model, Fasano said.
There are a number of doctors around the country monitoring the research, including Dr. John Schaffer, a gastroenterologist at the Mayo Clinic in Minneapolis, which also houses a celiac center. The latest treatments being explored are promising, he said.
Still, he agreed, diagnosing the disease remains a problem. He said it's encouraging to see family members of those with the disease recognize they also need to be tested, even if they have no symptoms or have symptoms unrelated to the gut. There may be hidden damage to their intestines.
Schaffer hopes new research will lead to easier means of diagnosis than blood tests and biopsies, and better information on when to test for the disease, which doctors now know can surface in adults and even seniors. And maybe it will lead to easier ways to live with the disease — ones that don't involve so much dutiful label-reading and trips to the dietitian, he said.
"There's a lot we don't know about the disease," he said. "But there's a lot of work going on now."
About celiac disease
• One in 133 people suffers from it
•It's an autoimmune disease, not an allergy, and can't be cured
•It can surface in children or adults, who can't properly digest gluten
•Gluten is a protein in wheat, rye and barley, commonly found in the human diet
•Sufferers can have gastrointestinal and unrelated problems such as fatigue, infertility and depression
•The only treatment is a gluten-free diet, which requires much label reading