From misdiagnosis to helping thousands
On any given day, Lauren Stiles wakes up to find emails from patients in Saudi Arabia, doctors in New Zealand, or monks in India, all asking for advice. The organization that Stiles founded in 2012, Dysautonomia International, receives more than 100 messages a day from people seeking information about disorders of the autonomic nervous system (the part of the nervous system responsible for functions that are not consciously directed, such as heartbeat and digestion). Their hunt for advice, for help of any kind, is familiar to Stiles, who spent two years searching for her own diagnosis.
In 2010, Stiles was a busy 31-year-old attorney in New York. She often went surfing or snowboarding on the weekends with her husband. Then she suffered a concussion while snowboarding, and overnight she developed symptoms like fainting, low blood pressure, rapid heartbeat, and GI dysfunction that lead to an unintentional 60-pound weight loss. After nine months of misdiagnosis and countless tests, doctors diagnosed her with carcinoid (a slow-growing neuroendocrine cancer). But through her own research on PubMed, an online medical database, Stiles learned that one of the medications she was taking could cause a false positive for carcinoid biomarkers (a test used to detect cancer). She persuaded the doctors to retest her after a 48-hour break from the medication. In the retest, they found that she didn’t have carcinoid, but they were at a loss about what she did have. Stiles decided to do some more research. She found that her symptoms matched those of a disorder called Postural Orthostatic Tachycardia Syndrome (POTS). POTS is a neurological condition affecting around 1 to 3 million people in the U.S., many of them undiagnosed. Stiles put together a stack of around 50 publications on POTS for the neurologist who was treating her, and he came back from reading the papers with an announcement: “You have POTS.”
After this ordeal, Stiles wanted to help others going through similar circumstances. “When I saw the online support groups for POTS patients,” she said, “there were literally tens of thousands of other people that had gone through the same lengthy misdiagnosis that I did, or worse. I wanted to do something about it.” That was the catalyst for Stiles to start a nonprofit patient advocacy organization, Dysautonomia International, which began with the help of other concerned families and physicians. The organization raises funds for research, offers support groups, and has created a POTS registry with over 3,300 patients enrolled. Dysautonomia International also hosts conferences for doctors, researchers, and patients.
“Public availability of clinical trial data is important, especially the clinical trial data
used by the FDA to determine safety
and efficacy of drugs.”
One of the things Stiles is particularly passionate about is transparency in clinical trials and the standards used to approve drug treatments for patients. A case that she is concerned with now deals with the drug midodrine hydrochloride. Approved in 1996 by the FDA, the drug is taken by patients with low blood pressure, including those affected with dysautonomia-related disorders. At the time the drug was approved, the FDA granted “accelerated approval” to the pharmaceutical company Shire for the drug, with the condition that the company conduct further trials on clinical benefits post-approval. Then in 2010, the FDA issued a notice stating that it was considering withdrawing approval for this drug, writing that “to date, neither the original manufacturer nor any generic manufacturer has demonstrated the drug’s clinical benefit, for example, by showing that use of the drug improved a patient’s ability to perform life activities.”
Since then, Shire agreed to conduct two further trials to verify midodrine’s clinical effect. And in 2012, the FDA put the proposal to withdraw approval on hold. On September 11 of 2014, the FDA sent a letter to Shire, extending the deadline to submit trial results to the FDA from September 12, 2014 to March 31, 2015. That notice was the last public update on midodrine from the FDA.
Stiles says that the suspense surrounding the drug’s future has caused the patient community – many of whom depend on this drug – to feel a great deal of anxiety. “Are we going to be able to get this drug next month? Is the FDA just going to pull it? We have no idea.” She has written about the case extensively on the Dysautonomia International site and argues that it shows the need for timeliness and transparency in the process of creating and approving new drug treatments. “Public availability of clinical trial data is important, especially the clinical trial data used by the FDA to determine safety and efficacy of drugs sold in the U.S.”
Lauren Stiles is the founder and president of Dysautonomia International. She has lectured on autonomic disorders at the National Institutes of Health, Duke University, Harvard University, and Stony Brook University, and has conducted research on autonomic disorders with Vanderbilt University, University of Texas Southwestern, and private practice neurologists. Lauren will participate in a panel discussion on the promises, pitfalls, and reform efforts surrounding clinical trials on September 29 at NYU. The event is free and open to the public.