It was one of those difficult medical cases with a number of symptoms that took years to name. When doctors finally wrote the diagnosis on the white board of her hospital room, Leslie Adler - like much of the world - had never heard of it - Erdheim-Chester Disease.
ECD is so rare, the medical field has documented less than 400 cases worldwide in the past 80 years, since 1930 when pathologists Jakob Erdheim (Austria) and William Chester (United States) first described it.
Leslie and her husband, Rich Adler, are planning their second fundraiser to benefit the Erdheim-Chester Disease Global Alliance for research into the cause, and development of treatment, for the disease. It takes place Saturday, June 4, from 5-10 p.m. at Pony Espresso Café.
What is ECD?
The cause of ECD is unknown; there is no cure. Symptoms are varied and not present in every case. They may include bone pain, weight loss, fever, weakness and fatigue, balance issues, vision difficulties, bulging eyes, shortness of breath, and excessive production of histiocytes - cells which normally fight infections. Histiocytes accumulate in loose connective tissues, bones and organs, which become dense and fibrotic.
Leslie's doctors thought her symptoms were due to any number of reasons - thyroid, hiatal hernia, allergies, or a need to diet and exercise more.
Rich said the signs were present for at least a year or two before the diagnosis, but would come and go.
"For about six months before the diagnosis, all the symptoms were escalating and were more consistent. We went to several local doctors. No one knew what was going on," he said.
In June 2009, one of Leslie's doctors recommended a stress test to rule out heart involvement, and set up an appointment a month out.
Before the appointment rolled around, Leslie got to the point where she could barely move and was having severe coughing fits, and swollen, painful legs. Rich told her he was calling the Mayo Clinic in Scottsdale, and Leslie said okay.
"The way I knew she was really sick," Rich said, "is she let me drive. She said, 'You better drive,' and that never happens."
Mayo Clinic and diagnosis
Admittance to Mayo requires a commitment to stay several days and undergo numerous tests, Rich said. He packed a bag. Doctors scheduled seven or eight tests, the third of which was an echocardiogram.
Leslie said the cardiologist took a look at the test results, came into the room and said, "You have to go to the hospital right now."
About 12 doctors and nurses immediately appeared at her bedside in the emergency room, and within a half hour, they had drained 1,700 cc of fluid from around her heart - about a liter and a half. Doctors were baffled when the fluid returned and they were manually accessing and draining it every six hours. Later they told Leslie she would have died in two to three weeks without intervention.
After eight days and more tests, including a biopsy of tissue around the kidneys where tests showed a dark area, doctors ruled out cancer. They had, however, found Touton-type giant cells, one indicator of ECD.
The next week there were more tests and continued fluid drainage around the heart. Doctors found the Touton cells in other parts of the body - chest, behind the eyes, which protruded slightly, and in the bones of her legs and ankles.
"I had had some visual issues, fluttering, double vision when looking to the left, that only started a couple of months before. I thought, 'What does that have to do with the legs?' You look back, my legs were hurting off and on for years. Everybody said I needed to diet and exercise."
Heart surgery eventually slowed the collecting of fluid around the heart, and subsequent echocardiograms show no residual damage and much improvement. It took months for the swelling in Leslie's legs to go away, but the pain in her bones remains. She can't stand or walk for long, and pain runs down her arms to her hands.
Treatment and research begin
They found an oncologist they trusted in Sedona and Leslie had six months of chemotherapy, which research has shown to be one treatment that helps many ECD patients. They also worked with a homeopathic doctor in Prescott to strengthen her immunity.
By that time, they found the website www.erdheim-chester.org.
"We were trying to be as proactive as possible," Rich said. "Dealing with a rare disease like this, even more so you have to be your own advocate and your own doctor. They don't know that much about it."
After her hospitalization, Leslie initially continued full-time work with Yavapai County Schools. One week a month she worked mornings at the office and received chemo in the afternoons, but she had to quit work about four months into treatment when the chemo zapped her energy level to nearly zero, she said.
Recent scans show less fibrotic tissue and less density, and she is not receiving any extra medical treatments at this time other than dealing with the fatigue and pain through homeopathic remedies and supplements.
"We believe she came through chemo as well as she did partially because of what the homeopathic MD was doing," Rich said, adding that this therapy was something new to them.
As of August 2010, ECD Global Alliance has located 69 patients worldwide (two from Arizona), and eight of those are deceased. A doctor in Italy is compiling ECD patients' medical reports and the Adlers have collected theirs to send.
Finding another clue
Along the way, another piece of the puzzle fell into place, one that baffled them as well as the radiologist who read Leslie's mammogram.
In 2008, more than a year before the diagnosis, a radiologist said to Leslie, "Do you know your mammograms are drastically different from a year and a half ago?" On the x-ray, both breasts appeared dense and fibrotic, with a reduction of two cup sizes since the previous mammogram.
The radiologist sent her back to the gynecologist, who said she didn't know what that meant, and sent her to a breast surgeon who sent her to a dermatologist, who performed a biopsy on an area that had developed a rash and bruising on both breasts.
The breast biopsy came back benign - at that point, the doctors seemed interested in ruling out cancer, not trying to pinpoint a cause.
"Just recently we got the pathology report from the biopsy and to our shock and surprise, ECD was actually mentioned in it. The pathologist had said she found Giant Touton cells, which are very rare, and she wanted to consider ECD."
The pathologist's findings to the dermatologist were not relayed to the breast surgeon, and the Adler's didn't discover this until they requested Leslie's medical files.
"So something happened to my breast tissue long before I got really sick," Leslie said. "It was a little piece of the puzzle that we wished we had known sooner. We didn't think one had to do with the other."
Part of fighting a rare disease means sometimes fighting the insurance company. Rich said he's done so twice, when Leslie's company denied "in-network" coverage of the emergency room admittance and hospital stay (originally a $170,000 bill) and also when the company denied the chemotherapy drug recommended by the Mayo oncologist because it was experimental, or "off-label," both common problems when dealing with rare diseases. Rich brought in his ECD research and treatment documents, and the insurance company finally reversed their denials.
"It's difficult when your loved one is trying to get well, and now you are having to fight so the illness doesn't bankrupt you financially, and there are deadlines to do the appeals. It's very stressful on top of the stress already there," he said.
For now, Leslie still needs rest during the day, will undergo more scans in July, and has filed for Social Security disability.
"Life goes on," Rich said.