The benefits of finding experts in the field of the porphyrias

A specialist's commitment to understanding the porphyrias is indispensable

Kristen Wheeden avatar

by Kristen Wheeden |

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Navigating the world of porphyria is a journey filled with learning, resilience, and the collective wisdom of countless patients and families who’ve walked this path before.

My journey into the world of porphyria didn’t begin in a doctor’s office, but rather through the experiences of my son Brady, who faces the daily challenges of erythropoietic protoporphyria (EPP). This rare condition, which disrupts the body’s ability to produce heme, an important component of hemoglobin, and leads to severe photosensitivity, has been both our struggle and our teacher. We have learned from fellow patients and many doctors. However, misinformation about the diagnosis and management of porphyria is widespread and leads to questions, including who is an expert, and why do they matter?

Through their daily experiences with porphyria, it’s clear that patients and their families are the true experts of their diseases. They possess a nuanced understanding of living with these profound and personal conditions. But medical experts are also critical.

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What do experts bring to the table?

Our family’s path to understanding EPP took a pivotal turn during our first visit with a porphyria expert, Manisha Balwani, of the Icahn School of Medicine at Mount Sinai in New York. Local doctors, while important to Brady’s care, typically had to resort to a Google search to learn about the disease and how to draw labs before we entered the examination room. Under the care of an expert, however, for the first time, local doctors could learn to draw Brady’s blood correctly. And the expert possessed a depth of knowledge about EPP that surpassed our own extensive research.

Since that visit, my engagement with the porphyria community has deepened. My role as president of the United Porphyrias Association has enabled me to connect patients and local doctors with the medical expert community.

Porphyria experts are more than healthcare providers with knowledge of the porphyrias; they are specialists deeply dedicated to understanding, diagnosing, and managing these conditions. They’re involved in cutting-edge research and are key players in networks like The Porphyrias Consortium and the American Porphyrias Expert Collaborative. Their level of experience is why we confidently call them experts.

Years of novel research and analysis culminate in publications that make these doctors innovative leaders in their field. Take a moment to check PubMed, a free National Institutes of Health database of medical publications, if you are interested in evaluating a doctor’s expertise.

Treating physicians are invaluable to the day-to-day management of health, but they may not have the specialized knowledge that porphyria demands. A porphyria expert brings a specialized understanding of these conditions that can significantly impact the approach to diagnosis, management, and treatment. They’re equipped to navigate the complexities of porphyria care, from identifying the most effective diagnostic tests to advising about the latest treatment strategies.

Moreover, porphyria experts can connect families to important resources, such as research studies or access to the latest therapies. These opportunities not only benefit patients directly but also contribute to the broader understanding and treatment of the porphyrias. A visit with an expert also enables a patient to share their unmet needs; it’s a dialogue where both parties learn from each other.

A specialist’s commitment to advancing the understanding of the porphyrias is indispensable, not only for those currently battling these conditions, but also for the medical professionals who will follow in the experts’ footsteps. It’s not just about managing a set of symptoms; it’s about building a future where the mysteries of the porphyrias are unraveled, and effective treatments — or perhaps even cures — are within reach.

The Danish physicist Niels Bohr once said, “An expert is a person who has found out by his own painful experience all the mistakes that one can make in a very narrow field.” This rings true with porphyria, where expertise is built on a foundation of dedicated research, clinical experience, and a deep commitment to patient care. These experts have seen the wide range of porphyria presentations and have learned how to navigate challenges effectively.

The collective wisdom of the porphyria community — which includes patients, treating physicians, and expert physicians — is what will guide change in porphyria management and treatment. Their dedication, combined with the support of organizations like the United Porphyrias Association, offers families and patients a robust network of knowledge, support, and hope. Together, we’re not just managing the porphyrias, we’re striving for a brighter, healthier future for all who are affected by these conditions.

Author’s note: This column was written with gratitude for the Scientific Advisory Board of the United Porphyrias Association.

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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