Raising Awareness of Rare Diseases

Raising Awareness of Rare Diseases

Seven thousand may not seem like such a big number. But 30 million definitely is. According to the National Institute of Health, about 7,000 rare diseases exist, but they affect about 30 million Americans. Looking closer at the numbers, that means about 1 in 10 Americans face such a diagnosis. Rare Disease Day, the last Day of February each year, seeks to raise awareness for these diseases to propel more research and treatment options for patients.

What is a Rare Disease?

A rare disease, also called an orphan disease, means there are less than 200,000 diagnoses annually in the United States. These diseases can consist of any kind of disorder, syndrome, condition, or cancer. For cancer cases alone, about 50% of patients are battling a rare cancer.

Unfortunately, treatments for these diseases are also seemingly rare. Only 5% have treatments currently, with less than 500 FDA-approved treatments available. But there is still hope. In the past few years, cancer research has seen a facelift with huge undertakings to accelerate the pace and bring us closer to potential cures.

The Cancer Breakthroughs 2020 Initiative, for example, is an unprecedented collaboration spearheaded by Former Vice President Joe Biden. This project’s goal is bringing together pharmaceutical companies, academics, oncology researchers, governmental agencies and more to rapidly accelerate cancer research and treatment efforts. Though this project is focused on cancer specifically, other research projects like the Chan Zuckerberg Initiative are working toward changing how we treat and manage all diseases; they’re working towards better prevention and treatment to hopefully eliminate such suffering. For rare diseases like mesothelioma, an aggressive cancer that typically sees about 3,000 diagnoses each year, research like this provides so much hope. Many rare disease patients face poor prognoses or a lot of uncertainty with how to approach treatment, so research is crucial.

Steps You Can Take

Rare diseases are notably very difficult to diagnose, and many patients face misdiagnosis for months. Since 80% of rare diseases are genetic and about half of these diagnoses occur among children, newborn screenings are so important. Early detection can allow for life-saving intervention and treatment. If a family has a history of a disease, genetic counseling can also help evaluate and determine the potential risks of an inherited disease.

For the diseases that aren’t genetic, prevention is the best approach. Following some preventive tips, like simply adhering to a healthier diet, can greatly reduce our risk of developing certain cancers. Educating yourself and becoming more aware of preventable cancers and diseases can also be the most important step to reducing your risk. For example, mesothelioma’s only known cause is exposure to asbestos; educating yourself on asbestos and its dangers, as well as where to find it, could essentially eliminate your risk of developing those asbestos-caused diseases.

Get Involved

We can all help support patients and their families suffering from a rare disease by simply raising awareness. Being better educated can truly help save lives, and a simple tweet could inspire someone to take more preventive measures. You can also help by donating to some of the ongoing research projects mentioned above or to disease specific organizations. Funding is essential to research and making a cure a reality.

If you want to learn about other ways to get involved, be sure to check out these suggestions from the National Organization of Rare Diseases, and spread the word on Rare Disease Day and beyond!

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Article by Tonya Nelson, health advocate for the rare cancer, mesothelioma

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