Sharing one woman’s resilience in the face of a porphyria attack

I recently had the honor of attending the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, D.C., on behalf of the United Porphyrias Association (UPA). The annual Rare Diseases and Organ Products summit brings together advocates, patients, researchers, and healthcare professionals from the rare disease community to discuss advancements, challenges, and the future of patient care.

This year, UPA’s community engagement manager, Mayra Martinez, was scheduled to speak about her journey with acute hepatic porphyria (AHP). However, true to the unpredictable nature of this often cruel disease, Mayra experienced a severe attack of acute intermittent porphyria (AIP), a type of AHP, just days before the summit.

As those of us in the porphyria community know, this disease can take a devastating toll, both physically and emotionally. Instead of speaking at the event, Mayra found herself hospitalized, fighting through yet another painful episode.

In her absence, I had the humbling opportunity to stand in her place and share her story with the summit attendees. Mayra’s experiences are all too familiar to those living with porphyria, a disease that often goes unrecognized and misunderstood.

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Mayra Martinez learned she had acute intermittent porphyria in 2018. (Courtesy of the United Porphyrias Association)

I began my introduction by explaining who I am — Kristen Wheeden, UPA president and the parent of a child with porphyria. But more importantly, I shared who I am not: Mayra Martinez, who should have been there that day, speaking in her own voice about her journey.

AIP is life-threatening and can come on without warning. Attacks typically present with severe abdominal pain, nausea, vomiting, weakness, fatigue, and, in some cases, seizures or paralysis. These symptoms often send patients to emergency departments, where they are frequently met with skepticism and delayed treatment because of the rarity of the disease.

In Mayra’s case, it took nearly four hours for her to be seen and two days to receive the necessary treatment. And even then, she had to teach the nursing staff how to administer her Panhematin (hemin for injection), a medication that’s been approved in the U.S. since 1983. That’s what she was dealing with while I stood before the summit attendees, telling her story.

Mayra was diagnosed with AIP in 2018, after a particularly harrowing porphyria attack left her completely paralyzed. She had to learn how to walk again, regaining her physical strength and her sense of self. But more than that, she found her voice, which she has since used to uplift others.

She made it her mission that no one else should have to walk the difficult path she once did alone. Today, Mayra works with UPA, creating awareness, engaging the patient community, and connecting with people in ways that are personal and impactful. Her resilience, courage, and compassion inspire me every day.

The power of resilience

In her absence, I shared words she’d written, ones that capture her determination and spirit:

“Standing at only 75 pounds after near-death weeks in the ICU — paralyzed, intubated, and feeling utterly alone — here’s what hitting rock bottom granted me: 1. A redirection to put my health on a pedestal. 2. An opportunity to reevaluate and pivot in my life. And 3. A new perspective — I got another shot to try it all again. If I can overcome, so can you.”

Mayra’s story is emblematic of the countless individuals affected by rare diseases like AIP. It highlights the ongoing challenges we face as a community — delays in diagnosis, lack of awareness, and the daily fight for proper care and treatment. But it also shines a light on the resilience and strength of those who live with these conditions.

The NORD Breakthrough Summit provided an incredible platform for sharing these stories, for bringing attention to the unmet needs of the rare disease community, and for pushing forward the conversation around better care, research, and advocacy. I was grateful for the opportunity to represent UPA and our work, but more than anything, I was honored to represent Mayra and the many others who continue to fight every day for hope and healing.

Mayra’s absence was a stark reminder of the unpredictability and severity of AIP, but her presence was felt in every word I spoke. She, like so many in the rare disease community, exemplifies the power of resilience and the importance of staying connected. Even in the most challenging moments, there is hope — and that hope is what fuels the work we do at UPA.

As we move forward, we’ll continue to fight for better treatments, earlier diagnoses, and greater awareness, so that fewer people will face the challenges Mayra has had to endure. And so those who do won’t face those challenges alone.

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.