Kristen Wheeden is executive director of the American Porphyria Foundation. She is also the incoming chair of the Rare Diseases Clinical Research Network (RDCRN)’s Coalition of Patient Advocacy Groups (CPAG), after serving last year as co-chair. In this interview, she describes how her son’s diagnosis drew her to patient advocacy.
How did you get involved in advocacy work for rare diseases?
Like many who work in patient advocacy, I landed in this field when the impact of a rare disease hit our family. My youngest son Brady was diagnosed with a type of porphyria at age three after experiencing symptoms for nearly two years. My background is in business and in public health, and I was far down a different career path. I began volunteering with the American Porphyria Foundation (APF). At the time, the APF’s central hub was in Texas and I was in Maryland, so I was able to support their great advocacy work in Washington, DC. It became my passion and I wanted to focus any skill and energy on helping the entire porphyria community. Brady is now 16 and fully supports my professional work in addition to the best role ever of being mom to him and his two older brothers.
Can you tell us more about porphyria as a rare disease?
Porphyria is a group of eight distinct rare metabolic diseases resulting from the buildup of certain chemicals related to red blood cell proteins. All porphyrias are due to an accumulation in the body of porphyrins or porphyrin precursors. These are normal body chemicals, but they do not typically accumulate. Those chemicals are either neurotoxins or photosensitizers (molecules that can be activated by light) and their accumulation leads to the type of porphyria. There are two main categories: acute porphyria and cutaneous porphyria.
Acute porphyria typically presents with severe symptoms including abdominal pain, nausea, vomiting, tachycardia, and brain fog, among others. An acute porphyria attack is extremely painful and can be life-threatening. “Hot coals,” “flaming knives,” and “chards of glass in my stomach” are common ways that patients characterize an attack. Attacks are triggered by unsafe medications, hormonal shifts, infection, diet, and can be exacerbated by stress. The only safe medication that touches the pain of an acute attack is through opioids, which lands our patient community in the center of the opioid crisis. Patients are often labeled as drug seekers and turned away from emergency rooms for simply requesting adequate care.
Cutaneous porphyria is photo-activated, most often triggered by the sun and sometimes by artificial lighting. Patients experience painful phototoxic reactions. The reactions can be invisible or include blistering.
My son lives with erythropoietic protoporphyria (EPP). A reaction is extremely painful, can last several days, and doesn’t respond to pain medication. It starts with a burning itching, tingling feeling that is very uncomfortable. That is the warning sign, or prodrome, and it can resolve rather quickly if a patient seeks safety. If it goes into a full-blown reaction, the pain lasts for days with only time and darkness to help.
People with EPP would describe the sensation as putting their hand in a burning fire or holding hot coals or even putting their head in the oven. It is that painful. Once a person has experienced a reaction, they tend to become sun avoidant, which of course has its own issues with isolation and anxiety. Patients are known as “Shadow Jumpers”—moving from shade to shade to find their next safe place.
The porphyrias are complex and the work of our brilliant experts and scientists is beyond impressive. Yet there is more work to do to understand the basic science of the disease, the impact on patients, and to move toward additional treatments and someday a cure.
What recent progress has been made in treating the porphyrias?
The porphyria community is blessed with three U.S Food and Drug Administration (FDA)-approved treatments. The first approval of Panhematin (for acute porphyria) corresponded with the passage of the Orphan Drug Act, a law designed to facilitate development of drugs for rare diseases. If fact, it was the first orphan drug approved!
We were thrilled to have two additional treatments approved in 2019, including Givlaari for acute porphyria, and Scenesse for patients with EPP ages 18 and older.
The journey for each approval began with a well-educated and cohesive patient community along with dedicated porphyria experts. It continued with a research-ready cohort and collaboration with our industry partners that led to success in clinical trials. We are also working hard on a new treatment for EPP that is now in Phase 3 clinical trial, a study we have just fully enrolled. This trial is exciting because it is for ages 12-75—finally, an opportunity for adolescents to participate in a clinical trial.
We have no plans to stop here! We’ll keep at it until every patient impacted by porphyria is treated.
Tell us more about the American Porphyria Foundation.
The American Porphyria Foundation was founded in 1983 by an acute porphyria patient and another caregiver who saw the need to develop a community to educate physicians and fellow sufferers as nothing existed at the time. Their tireless work laid the foundation for an incredible organization that serves thousands.
We now have about 13,000 members, domestically and globally. Our mission is to improve the health and well-being of all individuals and families impacted by Porphyria through a focus on research, education, awareness, advocacy, and support. Our tagline since 1984 has remained Research is the Key to your Cure. Our patient community must be involved in research; there is no one else!
We spend significant time and resources on education of both healthcare professionals and the patient community. Of course, patients are the backbone of this community. We are here to learn from them, to serve them and to impact their quality of life and that of their caregivers.
Can you offer an example of empowering patients?
Knowledge is power. We encourage the patient community to know about their disease, to develop an educated care team, and to self-advocate. We provide comprehensive education packets, brochures, and a website written and reviewed by expert physicians. We will send information to any patient or physician as someone is seeking diagnosis, management, or treatment for a type of porphyria.
We also work to empower our patient community to contact their legislative representatives. Whether the issue is access to treatment, reimbursement, a focus on rare disease, etc. – we encourage patients to use their voice.
How did the American Porphyria Foundation come to be part of the Rare Diseases Clinical Research Network?
A dedicated group of physicians formed the Porphyrias Consortium including The American Porphyria Foundation as the sole patient advocacy organization. It is an excellent team of clinicians and researchers. We are now in our last grant cycle.
I have inherited a well-connected group of dedicated physicians and researchers who also serve on the APF Scientific Advisory Board. They value and support the work of the APF as the patient advocacy group.
What roles do your patients play in research?
There would be no research without them! They are the true heroes in the porphyrias. It is only through the patient voice and patient experience—and the willingness to be part of the solution—that we will gain traction in a better understanding of these diseases that could lead to treatments and cures.
I wish all patients would have the opportunity to listen to discussions that occur among the physicians behind the scenes. Living with porphyria can be lonely, isolating, and often scary. To hear the scientific conversations among the experts in this field, the collaborations that form, the knowledge shared and the dedication to improving the lives of patients—it is truly inspirational and a mainstay of our hope.
The people who are studying the disease and the people who are living with it are all my heroes!
Tell us more about your role as incoming chair of the RDCRN’s Coalition of Patient Advocacy Groups.
First, it has been such a wonderful opportunity to work with the terrific leadership and staff of the RDCRN, along with meeting and working with my fellow patient advocacy organizations. We had a productive 18 months with Tracy Hart (Osteogenesis Imperfecta Foundation) as the patient advocacy group chair with me as her sidekick. As incoming chair, I am excited to continue the work with Kristen Anthony (PTEN Foundation) as our co-chair.
Clinical trial readiness has been a big focus. We created a five-part webinar series on clinical trial readiness. We are on our fourth one now: Clinical trial readiness from the patient perspective.
Data is an ongoing issue, both the importance of it, the sources of data, and the uses of data. I think that will be a focus moving forward.
I also think that supporting and nurturing the important work of the working groups, getting even more engagement in them, and sharing valuable information developed from them is critical to our work, and it has become a good avenue for the researchers and the patient advocacy leaders to work together.
Another topic will be the sustainability of the consortia after their RDCRN funding ends. As many groups will be sunsetting, maintaining scientific momentum is critical.
How has the COVID-19 pandemic affected your group’s work and your patient community over the past year?
I think we can all agree that there is really nothing that COVID hasn't affected. One of the silver linings of COVID is that the world has gotten an education on what it's like to be isolated, to live with something that is poorly understood, to hope for treatments. The whole world has received an education on what we think about every single day.
But also, I think the increasing availability of telehealth has been a boon for the porphyrias as well as other rare disease patients, in that it has enabled patients to visit with experts and specialists in the areas where previously that wasn’t possible, without traveling to one of our porphyria centers.
Our post-covid hope is that with our strong partnerships among patients, researchers, and industry partners, that we will be able be able to continue to further and advance studies and trials in the porphyrias.
The Rare Diseases Clinical Research Network's (RDCRN's) Coalition of Patient Advocacy Groups (CPAG) promotes collaboration between patient advocacy groups and the research network to facilitate better access to, and earlier benefit from, research on rare diseases. As the patient advocacy arm of the RDCRN, the CPAG and its members use their position to advance the cause of rare diseases research and improve patient outcomes.
The Porphyrias Consortium (PC) is part of the RDCRN, which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). PC is funded under grant number U54DK083909 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).
