How a leader in the porphyria community shaped my life
A big thanks to APF Director Desiree Lyon for 4 decades of advocacy
The first time I realized I was rare, a doctor at the Mayo Clinic said he’d never seen a test for acute hepatic porphyria (AHP) come back positive.
Mayo Clinic was my last hope, the place I went when no one else could help. A medical resident on my case told me to check out the American Porphyria Foundation (APF). Teeming with patient stories, medical expert biographies, scientific studies, and the names of prestigious board members, its website was robust. I wiped my eyes and called the 800 number.
Days later, my partner, Michael, drove with me on a rural, two-lane Iowa road. We wound through harvested soybeans and cornfields, past pumpkin patches dappled with mums and an orchard with rows of naked apple trees. A call burst through the speakers from an unfamiliar number, and my heart leapt into my throat. I’d been expecting a call from the APF executive director, Desiree Lyon. But by that point, it was nearly 7 p.m. on a Friday.
I answered the call and suddenly a boisterous, Southern accent filled the car. It was Desiree. My mind filled with questions. Why was the director of a small nonprofit calling me on a weekend? How did she know so much about my porphyria experience? And why did her calling me “darling” feel so tender against my sternum?
That first conversation with Desiree lasted an hour and left me feeling lighter than I had in months. She was the first person I talked to who shared my diagnosis. I suspect I’m one of many with a similar Desiree story.
Last month, she announced her retirement after just over 40 years of service to the porphyria community.
One woman’s impact on a rare disease
Desiree’s AHP attacks began in her teenage years, a time before approved treatment options, social media groups, and patient advocacy nonprofits. She founded the APF in 1982 from her kitchen table, with a vision to put patients first. But her AHP continued to demand her attention. By her estimate, she endured 100 hospitalizations and 30 trips to the intensive care unit for bimonthly attacks.
“I would hide the fact I was ill if a patient called,” she remembered. “I didn’t want to affect their hope in any way.”
Desiree worked with tribal communities experiencing AHP, consulted for movies such as “The King’s Speech,” and served on several boards, including for MD Anderson Cancer Center and the University of Texas Medical Branch. Her work and passion shaped more than an advocacy organization. It built porphyria awareness, trained doctors all over the country, and helped usher in the first treatment approved by the U.S. Food and Drug Administration (FDA) for AHP under the shiny new Orphan Drug Act in 1983. She won a National Organization for Rare Disorders Rare Impact Award in 2016 and was named an FDA Hero in 2013.
The second time I realized I had a rare disease was while reading Desiree’s book “Porphyira: A Lyon’s Share of Trouble.” For the first time, I was reading highly specific accounts of my bodily experience: a distended abdomen, insomnia for days, weeks of pain, and urine the color of pinot noir. I asked my mom to read it, too, yearning for someone close to really see me.
Desiree inspired me to share my story. In fact, the name of this column, “One Thousand Flaming Swords,” cites a phrase she once used to describe acute attack pain.
Passing the torch
The last time I realized I was rare was when I explained to an emergency room triage nurse in the middle of an attack where she could access the safe drug database. Self-advocating in medical situations and endlessly educating providers, family members, and friends can be a burden, but I’ve chosen to accept it as part of the rare disease deal. I observed Desiree lead by example in this regard, demonstrating this lesson again and again.
Desiree’s story continues to give people around the world hope, especially those of us who live with particularly active disease. The friends I’ve met through the APF are the silver lining of my health journey. I recently texted with one who has acute intermittent porphyria (AIP), a type of AHP. She referred to Desiree as her “AIP role model.” I understand the sentiment.
A year ago, longtime APF member and volunteer Nicole Castellano was chosen to succeed Desiree as director. “I definitely have big shoes to fill with all that Desiree has done for porphyria,” she told me in a text. Nicole also lives with AHP and understands the gripping pain and grief associated with the disease.
Forty years later, the porphyrias are more understood and the pain better recognized. We have a long way to go, but on behalf of the porphyria community, I thank Desiree Lyon for building a solid foundation.
Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to porphyria.
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