A doctor didn't advise Vermont's Karen Nolan that she might be one of the scant 3.5 per million people diagnosed annually with Cushing's disease - another Cushing's patient did. After reading Nolan's post on an Internet message board, another patient suggested Nolan's lab results and symptoms could indicate pituitary disease and that help might be found more that 3,000 miles away at Oregon Health & Science University.
"She sent me a link to the Cushing's Help and Support Web site (www.cushings-help.com,) a patient-created and maintained site, and suggested an Oregon doctor known for solving difficult cases," said Nolan. That doctor is William Ludlam, M.D., Ph.D., director of the OHSU Pituitary Unit, one of the largest neuroendocrine centers in the country.
Cushing's disease is a form of Cushing's syndrome and is caused by a tumor in the brain's pituitary gland that secretes excess levels of a hormone called ACTH. Elevated ACTH in turn stimulates the adrenal glands to produce excess cortisol, wreaking havoc on the body. Symptoms of the disease include: uncontrolled obesity, rounded face, increased fat around the neck, and fragile skin that bruises easily and heals poorly. The bones are weakened, and routine activities such as bending, lifting or rising from a chair may lead to backaches, rib and spinal column fractures.
"Cushing's tumors are almost always benign. However, they can be devastating to a patient's health and quality of life. They can even be fatal without proper treatment," said Ludlam, a professor of medicine (endocrinology, diabetes and clinical nutrition) in the OHSU School of Medicine. "The Internet is changing the face of rare diseases like Cushing's. Patients tell me they simply "Googled" their symptoms and there it was."
Cushing's can be difficult to diagnose. Many patients who contact Ludlam first test positive for the disease but subsequent test results are negative. In addition, because the disease is relatively rare, all physicians do not necessarily have the expertise to effectively identify the disease. In fact, many patients are repeatedly told they are not even sick and that the problem can be solved simply through diet and exercise.
"Many times with Cushing's, only the most textbook cases are readily diagnosed," explained Ludlam. "However, even these patients, who display the physical signs of the disease and have consistently positive tests often go undiagnosed for years. But there is also a large pool of people with Cushing's completely below the radar of most clinicians. They might not have the physical symptoms or possibly their biochemistry isn't consistently positive, but they still have it."
"When my primary care physician suspected Cushing's, he sent me for evaluation," said Lisa Eldridge, who is now Nolan's support group friend. "After having both positive and negative tests for Cushing's and an unusual thyroid finding, I was told I had Graves Hyperthyroidism, a disease known for making a person rail thin. However, I was gaining weight uncontrollably. After consulting the Internet, I was even less convinced my problem was thyroid in nature. If I had Cushing's, I knew it was intermittent. At this point I'd lost eight years of my life."
Historically, according to Dr. Ludlam, Cushing's patients are sick on average five to 10 years before diagnosis.
Eldridge's continued research led her to realize that she needed a specialist who recognized the disease could be intermittent while utilizing a conservative, yet aggressive testing protocol. Having an experienced pituitary neurosurgeon on the team who handled 50 or more cases a year was also a must.
"The one thing I was sure about after all my research was my choice in Dr. Ludlam and the OHSU team. Whether he told me I did or didn't have Cushing's, I knew his was an opinion I could trust."
Both Nolan and Eldridge met Jaimie Augustine on Cushing's Help and Support. The Three Musketeers, as they call themselves, instantly bonded last year after finally meeting in person at OHSU. Augustine, a California native, even refers to Karen as her Cushie Mama. At 22, Augustine already has had two pituitary surgeries aimed at combating the disease.
"According to an old Irish proverb: 'It's better to laugh than to cry,'" says Augustine, "We laugh over everything, especially our wildly fluctuating weight gain. Nothing's sacred. It's the only way to get through this."
Nolan is the group's entertainment director during trips to OHSU.
"Whenever we fly out to Portland, there's always a Cushie party in the works," said Nolan, "We bring the "Testers," the "Pre-ops" and the "Alumni" returning for post-op testing together. And of course we always enjoy seeing our local Cushies from Oregon and Washington State". Eldridge, who grew up in Maine muses, "Oregonians are like Mainers-very warm and friendly. Traveling to Portland is like going home."