For many of us, it’s unimaginable to think of a daily life filled with intractable pain. It’s also hard to imagine caring for someone in pain of that intensity—be it your parent, spouse, friend, or even child. Yet that’s exactly the situation faced by countless families in our patient community living with acute hepatic porphyria, a group of rare, genetic diseases. They are the heroes among us.

As a rare disease, porphyria is not often at the top of a “checklist” when doctors are presented with symptoms, which mirror those of a variety of other conditions; so much so porphyria is often called “the little imitator.” The sad consequence of this is that patients are misdiagnosed or can remain undiagnosed for many decades. Educating doctors is critical; it can take years for a doctor to think of porphyria as a potential diagnosis, but once the doctor identifies the disease, diagnostic testing is rather simple. The more physicians understand, the faster patients can be diagnosed and begin to manage their disease.

As advances are being made in the treatment of porphyria, we are grateful for the life-saving treatment that reduces the symptoms of attacks, a result of the Orphan Drug Act passed in the 1980s. Since the Orphan Drug Act was passed, research on rare diseases has advanced considerably. We anxiously await the work of researchers on this potential new class of medicine. This next iteration of treatments, we hope, may be able to make the difference between lives filled with debilitating pain versus lives filled with happiness and hope.

At the American Porphyria Foundation (APF), we focus on raising awareness about these devastating diseases among physicians and advancing research. We have seen how repeated porphyrias attacks can take a toll on patients and caregivers; as the quality of life is diminished for one, it’s quickly diminished for the other. These are our everyday heroes. Advances in medicine would make such a difference for all patients to have a real chance at a normal, pain-free life.

Our patient community regularly hears from the APF that “research is the key to your cure.” If all the heroes work together—doctors who research and treat rare diseases, patients who endure each day with immeasurable pain yet remain hopeful, and the caregivers offering quiet, relentless support—we can confidently hope for a future that is better, brighter, and healthier for those who are waiting.

 

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Desiree Lyon

Desiree Lyon

Desiree Lyon is Co-Founder and Executive Director of the American Porphyria Foundation. Kristen Wheeden is Director of Development of the American Porphyria Foundation.