MY ROAD TO THE RARE DISEASE WORLD.
My road into the rare disease world began like many mothers before me and many that came after. It was a long journey filled with confusion, frustration and, for many years, no answers. My son struggled as a young child. When he was around two years of age, he started to make strange noises and had very unusual, repetitive movements, mostly of facial muscles and eventually of his limbs. This continued throughout his childhood and, despite my belief that the problem was medical, my concerns were dismissed. I was told, "this is normal" or "he will grow out of this" or "he's doing this for attention."
My son's issues continued. They caused problems in school and hampered his ability to learn and grow, especially because his symptoms prevented him from establishing age-appropriate friendships. I stewed in frustration. The medical community continued to dismiss my concerns, which prevented my son from getting help in school. Other children avoided him because his involuntary muscle movements, called "tics," made him look so unusual. He constantly was in trouble because he could not sit still, and he could not stop the noises that were continually muffled in his throat.
Finally, I got an answer; it was delivered by serendipity. I was reading Parade magazine and came across a story of a young man with Tourette syndrome, a rare neurological movement disorder. His problems perfectly mirrored the challenges my son faced. I yelled for my husband to come see. We took the article to our pediatrician who, thankfully, agreed. When our son found out his diagnosis, he said, "I kept telling you I couldn't help it. Why didn't you believe me?" Those words still cause me guilt today
Our pediatrician referred us to a specialist, but Tourette syndrome had no effective treatment. The drugs that were given had devastating side effects including leaving my son so sluggish that he sometimes fell asleep in the classroom. The specialist, who was a doctor out of Mt. Sinai Hospital in New York City, knew of a drug from Europe with fewer side effects. He asked if we would consent to participating in a clinical trial to test the safety and effectiveness of that drug. We readily agreed. The results were immediate--my son was more attentive, stopped falling asleep in school, and lost the weight he'd gained on other drugs. My husband and I were thrilled. The generic name of that drug was pimozide and it was being studied by the manufacturer for a common condition. Its use in Tourette syndrome was not important because the manufacturer never intended to seek approval from the Food and Drug Administration (FDA) for use on people with Tourette syndrome. But the drug helped our son tremendously and our lives improved. I joined the New York chapter of the Tourette Syndrome Association and worked to spread awareness about the disorder because virtually all of the people with Tourette syndrome whom I met at the meetings had also gone years without a proper diagnosis.
Every three months we were required to visit our son's Tourette physician, and at one of those visits I was told that this would be the last batch of pimozide that the doctor could give us. I was stunned. It turned out that the drug had failed on the more common condition and the pharmaceutical company did not feel there were enough people with Tourette syndrome in the United States to make the drug profitable enough. They knew it would cost the company millions of dollars to achieve FDA approval for a small market of patients.
"But it works for Tourette syndrome," I said in confusion.
That was my introduction into orphan drugs and rare disorders. Because Tourette syndrome was so rare, the pharmaceutical company could not profit sufficiently from sale to a small number of patients. So, although the drug was transformative for some people with Tourette syndrome, the company would no longer continue to develop it in the United States. The term "orphan" was used because these rare diseases were ignored and called "therapeutic or pharmaceutical orphans."
My family was devastated.
I vowed as I walked out of the physician's office that I'd work to find a solution to the problem of orphan drugs. First, I contacted various rare disease organizations. Many were aware of the problem, but were at a loss of what to do about it. Other organizations, who were supporting research on possible treatments for their diseases, were oblivious to the problem and were shocked to learn that the pharmaceutical industry wouldn't manufacture the treatment even if their grantees were successful in proving that a drug was safe and effective.
I knew then that I could not change the devastating orphan drug problem for one little boy, or one family, or even one disease. But, if rare disease organizations worked together, it would amplify our voices because collectively we represented millions of families. Together we would carry more weight than an individual organization that represented one disease. So, these various rare disease organizations joined forces to lobby the government to address the problem of rare disorders and orphan drugs.
The road to the creation and passage of the Orphan Drug Act (ODA) was long and arduous. It required so many people making so many sacrifices that I cannot detail all of the important events here. But, one of the key moments occurred when actor Jack Klugman agreed to tackle the problem of rare diseases and orphan drugs on his popular TV show, Quincy M.E.
The Orphan Drug Act (ODA) was passed into the law in 1983. Throughout the long process to its passage, I learned the true machinations required to bring a law to reality including riders, holds, and all of the backdoor dealings that stall and complicate our legislative process. The complete story is detailed in my book, Orphan Drugs: A Global Crusade. (Note: The electronic version is available at no cost on my website, www.AbbeySMeyers.com)
Following the law's passage, the various support groups that pushed for the ODA decided to form a patient advocacy organization committed to people with all rare disorders. The federation is called the National Organization for Rare Disorders (NORD) and I became the President. Those of us in the rare disease community had learned that while individually we were rare, collectively we had a very strong and powerful voice. I am retired now, and I speak for myself rather than NORD. Though retired, I still see problems and inequity in healthcare especially for children who are chronically ill.
By many measures, the ODA has been a resounding success. The law was designed to offer three major incentives for developing new treatments for rare diseases: federal grants for clinical research; tax credits to defray the cost of clinical trials; and seven years of market exclusivity for the first company that achieves FDA approval for their orphan drug. From 1967 through 1983, there were only 34 drugs approved by the FDA for orphan diseases. There are now more than 650 orphan drugs approved and on the U.S. market.
However, there are problems--new and old. The vast majority of rare diseases still have no cure or effective treatments. The ODA, while very successful, has not led to sweeping aid for the thousands of rare diseases that have been identified.
And, when the ODA is discussed now, it is usually in regard to the escalating costs of healthcare. Many of the approved orphan drugs on the market today carry a very high cost. These price tags are often shocking. Not every company who develops an orphan drug attaches high costs, but enough do that it has become a recurring problem, especially in people's perception of the law. For now, insurance companies are paying these high costs and most pharmaceutical companies create programs to help people without insurance obtain the medication. However, I fear there will be a breaking point if some insurance companies refuse to pay for life-saving treatments because they are "too expensive."
Although there are some challenges with the ODA, we must not lose sight that the law, when its original purpose is applied, has been wildly successful. And that extraordinary success has been admired and copied by industrialized countries throughout the world because they, too, have numerous populations of rare disease patients who are suffering for want of orphan drugs. We firmly believe that we must fix the loopholes without gutting the law that has helped so many people. In other words, to repeat the guidelines set down by our forefathers, we must not throw the baby away with the bathwater when trying to fix these problems.
Certainly, our healthcare system is overwhelmed with inefficiencies and significant issues. Fixing all of the problems of our healthcare system will be difficult. But, as the passage of the ODA shows, there is strength in numbers. Nonprofit organizations, families, patients, medical professionals, and everyone must work together. This is true not just for rare diseases, but all families and individuals dealing with health challenges, who must rise above their concerns for their own family and the disease that affects their own family member or members.
Only a collective group of advocates will be able to get the attention of politicians and the media, and they will, ultimately, have a better chance of effecting change. Passage of the ODA and the tireless collective work of so many patient advocates stand as testament to that fact. But here in the United States, which remains the only industrialized country in the world that does not yet have a mandatory health insurance law, our work ahead seems self-evident. We know the fate of our loved ones if insurance companies retain the right to deny health insurance benefits to people with pre-existing conditions. It is our duty to deny them that right and to work together to improve healthcare for everyone.
Abbey S. Meyers is the founder and past President of the National Organization for Rare Disorders (NORD). She retired in 2009 after 25 years, but she continues to serve as the honorary President Emeritus of NORD. Mrs. Meyers served as the consumer representative on several federal committees. She is the recipient of the FDA Commissioner's Special Citation for Exceptional Dedication and Achievement on Behalf of all People Afflicted with Rare Disorders (1988), and the HHS Public Health Service Award for Exceptional Achievements in Orphan Drug Development (1985). She is considered the primary American consumer advocate responsible for the passage of the Orphan Drug Act of 1983. Mrs. Meyers was also instrumental in the development and enactment of several other health related laws including a requirement to provide notice to physicians and patients before a treatment will become unavailable or experience a shortage; the Rare Diseases Orphan Products Development Act of 2002; the Rare Diseases Act of 2002; and she participated in the planning of the European Union's Orphan Drug Regulation.