Desiree Lyon has lived a large part of her life in between lengthy hospital stays. When untreated, her rare disease was like a roller coaster ride; its ups merely a respite before hurtling her into a deep abyss of searing pain and symptoms that brought her to the brink of death.
There is no overstating the unpredictable nature of porphyria and Lyon describes the associated abdominal pain as feeling like a “thousand flaming swords.” Struggling with the disease had a profound impact on Desiree’s life as she recalls over 100 attacks, 30 intensive care stays, experiencing total paralysis twice and the ensuing months of recovery.
“It’s a disease that makes no sense, even to doctors,” Lyon said. “You make a complete recovery. You feel terrific, and next week you’re in the hospital at death’s door.”
When Lyon’s symptoms began at age 18, only a handful of experts knew of Porphyria, which is a group of eight inherited disorders that result from a buildup of the body’s natural chemicals.
The most common type of Porphyria causes very fragile skin that can blister in sunlight. Abnormal chemical levels can also damage the liver and other organs. However, the acute intermittent Porphyria that Lyon was eventually diagnosed with is noted for extreme abdominal pain and can assault the central nervous system to the point of seizures, coma and paralysis of all four limbs.
For 10 years, Lyon went undiagnosed. Most doctors have never had a patient with the disease and it is not likely to be on their radar when assessing symptoms. There is no way to screen for it. Porphyria has to be suspected and tested for specifically.
There were doctors who wanted Lyon to try various medications, not realizing that the wrong drug could lead to an attack. Indescribable pain and the lack of a proper diagnosis aside, some of Lyon’s worst moments came at times when she was accused of being a hypochondriac. For Lyon and many women with porphyria, relapses are hormone-driven, with severe symptoms coming with ovulation and menstruation. Lyon endured a decade of excruciating pain and symptoms such as rapid heartbeat while being told that she was making “much ado about nothing.”
By nature or necessity, Desiree did the best she could to cope with the illness and be grateful for what she could do in between critical attacks. She was married with a child by the time when she was finally diagnosed at 28. When asked what the biggest impact the disease had on her life at that time, Lyon doesn’t hesitate to say that it was the agonizing fear that it would be too much for her daughter to see her mommy near death so often.
Lyon eventually found relief in a new drug and became a crusader for people suffering from Porphyria. Many decades had passed before Lyon again found herself on the brink. This time salvation would come in the form of a man she credits with “opening up a world of hope for porphyria patients.”
A Turn For the Better
When Jeff Aronin stepped into the picture, she immediately recognized a kindred spirit—the sort of person whose bottom-line didn’t include dollar signs. Yet, he had the drive and expertise she needed at that very moment.
By then, Lyon was the executive director of the Houston-based American Porphyria Foundation (APF), which she co-founded in 1982. It began on her kitchen table as a progression of the outreach she had done while in the hospital. She had vowed to do whatever she could to ensure that no one went undiagnosed or untreated again and continues to lead that effort today. The never-having-to-look-back point came when the foundation partnered with Aronin and his company at that time, Ovation Pharmaceuticals.
Leading up to their alliance, the injectable drug Panhematin was offering Lyon a new lease on life. Abbott Laboratories produced and sold the drug until the U.S. Food and Drug Administration (FDA) stepped in and demanded a complete plant upgrade before it would allow Abbott to continue manufacturing the treatment. Abbott decided to stop production of the drug altogether.
Supply of Panhematin dwindled at a frightening pace and, as a result, Lyon made desperate calls daily, appealing to the FDA and other government officials. She sought out CEOs of other drug companies, doing whatever she could to help restore production of the drug. She reached a Japanese drugmaker on his mobile phone, while traveling on business in Paris and tracked down another on his family vacation.
“I get it. You can’t lose money and stay in business,” Lyon, “but now we were down to the last 100 vials in the entire country, and that’s where we were when I met Jeff Aronin.”
The APF had 8,500 members, large for a rare disease group, but they were surviving mostly on donations from their members and did not have the resources to take on marketing. Physicians were also balking at the idea of using an orphan drug.
“Jeff and Ovation were willing to take the drug on and get the word out. They made it possible in all sorts of ways, with increased research and patient access, and educating doctors and patients. They took the risk to develop and market it. What it came down to was their trust in us. I knew it was a drug that would bring people from the horrendous darkness of pain into the light of life, a normal life, and I absolutely knew that Jeff and the people he surrounds himself with are for the patient above all else.”
“It just exploded. They found 100 research patients in a month. And another 100 the month after that. They opened up a world for porphyria patients that will continue.”
Jeff Aronin knew that Desiree was organized, passionate, and a notably hard worker. Her eagerness undoubtedly helped get the drug to where it is today.
“I didn’t tell him that. He recognized it on his own.”
Jeff Aronin eventually sold Ovation and founded Paragon Biosciences to incubate and invest in innovative biotechnology companies with patient-first commitments. Panhematin changed hands a couple of times, but it’s no longer in danger. It was acquired in 2017 by Recordati Rare Diseases Inc., which is committed to providing orphan therapies to underserved rare disease communities.
More about Desiree Lyon, The American Porphyria Foundation, and Jeff Aronin at http://www.porphyriafoundation.com/content/desiree-ovation-ceo-jeff-aronin