PRESCOTT VALLEY - Leslie Adler is one of three living Arizona patients with a rare disease of unknown cause called Erdheim-Chester Disease (ECD). To date, she is one of 144 people diagnosed in the United States, and one of only 241 in the world.
This is Erdheim-Chester Disease Awareness Week, and Leslie and her husband, Rich, are not only calling attention to the medical condition, but raising money for research.
ECD is an extremely rare disorder that can affect many different organs of the body. Histiocyte cells, which normally fight infections, go into overdrive with someone with ECD and infiltrate the loose connective tissue of the body. As a result this tissue becomes thickened, dense and fibrotic. Unless successful treatment is found, organ failure can result.
It took the Prescott Valley residents a couple of years and an emergency trip to Mayo Clinic in Scottsdale in 2009 to learn Leslie's diagnosis. Previous doctors said her symptoms were due to a misbehaving thyroid, hiatal hernia, allergies, or a need to diet and exercise more.
In addition to the excessive production of histiocytes, symptoms are varied and could include any or all of the following: bone pain, weight loss, fever, weakness and fatigue, balance issues, vision difficulties, bulging eyes, and shortness of breath.
Leslie underwent six months of chemotherapy. Her oncologist collaborated with a homeopathic doctor, which helped boost her immune system. Rich said choosing the homeopathic doctor was "very, very carefully done." Leslie's health has been stable for the past few years, although she returns to Mayo every six months for tests.
"If 'remission' was a word used with ECD, she would be in remission," Rich said.
About 10 studies are ongoing around the world, and Leslie is a participant in a National Human Genome Research Institute clinical trial through the National Institutes of Health in Bethesda, Maryland.
"We go once a year for a battery of tests. It would bankrupt us if we had to pay," Rich said, estimating the tests alone cost $100,000. The semi-annual Mayo trip runs about $5,000. Insurance companies are hesitant to cover medical costs for rare diseases, he said.
The gene mutation has no hereditary connection - good news for their son, Jeffrey, 21.
"It doesn't have the designation of cancer, which is too bad. More people could get lots of treatment," Leslie said.
Bengt Thornberg, an ECD patient in Sweden, has offered to match donations if every ECD patient is able to raise $1,000 each - a total of $241,000 - by Oct. 8, when the third annual Medical Symposium and Patient and Family Gathering takes place Oct. 8-11 in Houston.
The Adlers went to last year's Gathering and met others with the disease. They also found an ECD group that supports members through on-line chats.
The ECD Global Alliance website speaks for all ECD patients: Hope relies on research.
Visit the ECD Global Alliance website at Erdheim-chester.org for more information, or to make a donation.
Follow Sue Tone on Twitter @tonenotes. Reach her at 928-445-3333 ext. 2043, or 928-642-7867.