A Rare Disease Day Reflection

Rare diseases affect roughly 30 million Americans, yet only 5 percent of the estimated 7,000 known rare diseases have cures or treatments approved by the FDA.

Each February, clinical, tech, and advocacy communities around the world pause to reflect on this fact and take time to recognize the strides we’ve made and what is to come in the journey towards ending the diagnostic odyssey.

This year the FDNA team “showed their stripes” at Rare Disease Day events from Boston to Israel. We’re honored to be able to work in a field that can make a real impact on people’s lives and sincerely thank our community of friends and colleagues that have dedicated their lives to benefit the lives of others. We’ve asked a few of them for their thoughts on what Rare Disease Day means to them, and their feedback was both insightful and inspiring:

 

[Rare Disease Day] is the day I get to celebrate the tremendous gift of being able to work with all the wonderful families in our care. Some have been afforded a diagnosis, others not, but all are equally impassioned to create awareness and enable us to provide the care they need. My mentor once told me, “when you hear hoofbeats, don’t think of Zebras, look for the Unicorns,” but in recent times I listen for the beating wings of the Caladrius as more treatments become available for orphan disorders. I feel privileged to be a part of their journey and lives.

– Dr. Donald Basel, Medical Director, Genetics Center, Children’s Hospital of Wisconsin

 

To me, Rare Disease Day is a day where we recognize the determination of our patients and families to remain patient with those of us in the medical field. For many families it takes years to reach a diagnosis which can be understandably difficult and exhausting. But even after finding an answer, they are often forced to be the disease expert when interacting with the medical field, especially outside of the Geneticist’s office. This is an added burden that I imagine can be an overwhelming feeling. I am appreciative of these families for their willingness to support each other through phone calls, social media, and family conferences to better help all of our understanding of rare diseases.

– Dr. Dallas Reed, Tufts Medical Center

 

Rare disease day celebrates the journey of our patients and their families. It highlights their unique abilities and personalities. Rare disease day also shines a light on the need for improved understanding and learning in the medical community, and the need for new diagnostic and treatment options. It is my privilege and honor to work with these dedicated families on improving the life for individuals with rare diseases.

– Dr. Karen Gripp, Chief, Division of Medical Genetics, Department of Pediatrics, A.I. DuPont Hospital for Children

 

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Thank you to the rare disease community for your work and continued support in advancing precision medicine to end the diagnostic odyssey and improve the lives of those that need it most.