Let’s Keep Rare Disease Day Momentum Going

Kristen Wheeden avatar

by Kristen Wheeden |

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Rare Disease Day, observed yesterday, involved many awe-inspiring and well-organized virtual events attended by people from all over the world.

This annual day of observance generates awareness about some 7,000 known rare diseases and over 300 million people who live with them. According to Global Genes, about 80% of these diseases are genetic, and about half of those affected are children. My son Brady, who has erythropoietic protoporphyria, is among them.

Rare disease communities are united by the unique challenges we face. Yesterday, discussions about patients’ diagnostic odysseys mirrored the stories I hear every day in our porphyria community. New tools, information, and resources are surfacing to shorten the agonizing time between symptom onset and diagnosis.

The National Institutes of Health held a virtual conference that included several interesting sessions. During one, panelists discussed the benefits and challenges of telehealth amid the COVID-19 pandemic. Over the past few years, we’ve learned that technology can improve patient access to knowledgeable physicians and researchers. It would be a game changer for porphyria patients to have greater access to experts that can offer guidance about care and treatment options.

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Another session focused on precision medicine and “N-of-1” clinical trials, which aim to help patients with the rarest of rare diseases. Researchers are making significant strides with all porphyria types, even the ones that only affect a handful of people. No matter how many people live with a disease, all patients matter equally and deserve treatment options. In fact, all discussions I heard highlighted equity and inclusion, and emphasized that all rare disease patients need to be elevated.

Throughout the day, patients shared compelling and impactful stories about the significant challenges they face. As I listened closely, I recalled many porphyria patients who have echoed the same deep pain and suffering over the years. Rare Disease Day unites us.

The day gave us much to absorb, but it’s important to keep the momentum going, even when it’s hard to maintain the same level of enthusiasm.

How do you feel today? Did Rare Disease Day propel you into action? Are you inspired to raise your voice and hold hands (virtually for now) with the millions of other rare disease patients across the world? Do you feel like a change-maker? Or are you exhausted and just trying to get through the day?

For my son, today looks pretty much the same as yesterday. He went to school, still ducking the sun and jumping between shadows in the hallways. The acute hepatic porphyria patient I talked with yesterday is likely still wondering if her next attack is looming and working to identify how her body feels. Others are still recovering from their last attack.

The fanfare of Rare Disease Day was inspiring, affirming, and amazing. Yesterday, we wore our zebra stripes proudly. Today, we put back on our superhero capes to get ourselves and our loved ones through the day and find big and small ways to have an impact in the porphyria community. After all, we have many needs, including:

  • Less pain
  • More educated physicians
  • More research
  • More treatments
  • Improved access to available treatments

Hats off to the organizers, advocates, and communities who contributed to Rare Disease Day 2022. Bravo to the patients who shared their stories, and equal accolades to those who joined in simply to listen and learn. An enormous shoutout and sincere thank-you to the physicians, researchers, agencies, and advocates who are working hard to improve the way rare disease patients feel, function, and survive.

Now let’s figure out how to keep the momentum going, so that when Rare Disease Day 2023 arrives, we can celebrate the significant impact of our work this year.


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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