RARE DISEASE DAY

Written by Lisa Yen, NP, NBC-HWC - February 28th, 2019

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Rare Disease Day is recognized every year on the last day of February to raise awareness of rare diseases. While having a rare disease might not feel like a cause for celebration, it is an occasion for recognition!

What is a Rare Disease?

  • A rare disease is a disease that affects a small percent of the population. In the United States, a rare disease is defined as one that affects less than 200,000 people at any given time.

  • Patients with rare diseases report certain common experiences. A recent large scale survey of NET patients identifies NET-specific needs and challenges:

    • Delayed diagnosis (34% report >5 years for proper diagnosis with NET)

    • Health care providers have limited knowledge of their disease

    • Barriers to accurate information and education about the disease and access to NET specialists

    • Limited treatment options

    • Decreased quality of life

    • Increased financial costs related to traveling to see specialists and for medical care and treatment

    • Impacts the emotional health of the patient and their family/friends as well as the relationships with family/friends

    • Difficulty establishing trust with providers due to above-cited issues

HOW RARE IS NET?

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When you hear hoofbeats…

During their training, physicians are taught the mantra, “When you hear hoof beats, think horses, not zebras.” This means that symptoms are more likely to be caused by more common diagnoses rather than rare diseases. The zebra has become the mascot of the NET community as a representation of the rare disease status of NET. Each zebra’s unique pattern of stripes also speaks to the uniqueness of each NET patient’s disease and journey.

Why Recognize Rare Disease Day?

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  • Rare disease day is an opportunity to celebrate progress.

There are many to celebrate:

  • Celebrate the recent progress in the NET research made possible by NETRF, the leading private funder of neuroendocrine cancer research.

    • This article summarizes NETRF’s progress this past year.

      • NETRF continues to build on the ground-breaking FDA approval of Lutetium 177 (the above noted ASCO Advance of the Year) by investing research dollars to take it to the next level. In other words, PRRT, the mode of delivering the treatment, compared to an automobile. Then Lutetium 177 is like the Ford Model T, the first type of car available in the USA. Now, there is work being done to create many other types of cars in different models and styles. Click here to read more about ongoing PRRT research.

      • Recently, NETRF demonstrated its commitment to finding more treatment options for NET patients by awarding eight new grants for neuroendocrine cancer research totaling $2.5 million. To read more, click here.

  • Rare disease day is a reminder that we can also join the research effort.

When you hear hoofbeats, sometimes it’s a zebra…


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