2/19/2014 10:06:00 AM Rare Disease Day USA Difficult to diagnose disorders gain support
Calvin Bosick celebrates his fourth birthday with his grandmother, Nancy Bosick, after chowing down on a special ketogenic cake his mother baked. Calvin has Doose Syndrome, a rare and medication-resistant form of epilepsy.
Getting a diagnosis of a rare disease often comes after months or years of not feeling well. Then one must find a doctor who can treat it with something that works, is FDA approved, and is covered by insurance.
Rare Disease Day, Feb. 28, is an annual global event to call attention to rare diseases. In the U.S., a disease is considered rare if fewer than 200,000 Americans at any given time are diagnosed with a specific disease.
For Prescott Valley resident Leslie Adler, she is only one of 193 in the world (126 in the U.S.) diagnosed since 1930 with Erdheim-Chester Disease, according to ECD Global Alliance on the EDC official website. She had a variety of symptoms that doctors couldn't figure out until 2009.
She underwent six months of chemotherapy, and her health is stable today. She's able to volunteer nine hours a week in the Stepping Stones office and one day a week at the women's shelter.
She's also part of a study through the National Institutes of Health in Bethesda, Md., that provides free testing, scans, and medical reports.
"I was going to Mayo every year and getting scanned, just for my peace of mind," Adler said, adding that she also sees an oncologist and her regular doctor every three months.
Like many others dealing with a rare disease and its treatment, her husband, Rich, appealed twice to the insurance company before it agreed to cover medical costs, including the chemotherapy. The FDA has no approved treatment for EDC, Adler said.
She recently found out she carries a gene mutation called BRAF-V600E, which is not genetic, and therefore, to her relief, cannot be passed down to her son. Scientists have found that about 50 percent of people with EDC have this mutation.
The main objective of Rare Disease Day is to raise awareness among the general public about rare diseases and their impact on patients' lives. More than 70 countries participated in 2013.
About 80 percent of rare diseases have identified genetic origins, while others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
More than 6,000 rare diseases are characterized by a broad diversity of disorders, with symptoms that not only vary from disease to disease, but also from patient to patient suffering from the same disease.
The lack of scientific knowledge and information on the disease often results in a delay in diagnosis and difficulties accessing treatment and care.
European Rare Disease Organization, EURORDIS, established Rare Disease Day because the treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families.
Fifty percent of rare diseases touch children.
Nancy Bosick's grandson, Calvin, has a rare form of epilepsy called Doose Syndrome that is usually diagnosed in early childhood. Because the disorder is rare and medication-resistant, the doctors do the best they can with treatment and the patient has to deal with the side effects of medication that may or may not work, Bosick said.
What has helped Calvin is a Ketogenic diet - a strict "extreme Atkins" diet, Bosick said - where his parents weigh and measure not only everything that goes into his mouth, but anything that gets on his skin, such as lotion and toothpaste.
"All those things have carbs and sugars in them," Bosick said. "This definitely changes your whole lifestyle."
The ketogenic diet, with its high-fat, low-carbohydrate intake, forces the liver to convert fat into ketone bodies, which replaces glucose in the brain and reduces epileptic seizures. It is not a balanced diet, but it seems to work.
Research is vitally important in the study of rare diseases. For more information, visit rarediseaseday.us. Click on Handprints Across America to read inspirational stories from children and adults with rare diseases.