1 Rare Disease Day 2016: Continuing the fight for cures - Discovering Cures Coalition

Rare Disease Day 2016:

Continuing the Fight for Cures

Starting on February 29th and throughout the month of March, voices at special events around the globe are talking about the fight for cures as they honor #RareDisease.

Nearly 30 million people in the United States live with rare diseases — they impact more people than AIDS and cancer combined, according to Global Genes, a patient advocacy group. But most people would have trouble naming more than a handful of the disorders.

The biotechnology industry has been hard at work to develop treatments and ultimately cures for the thousands of rare diseases in order to give patients the most precious gift of all — time.

More than 450 medicines are currently in development for rare diseases and one-third of all new drug approvals in the last five years were for rare diseases. In fact, the biotechnology industry had a monumental year in 2015 with the most approvals in history for rare disease treatments. The Food and Drug Administration approved 21 drugs for rare diseases in 2015, surpassing the previous record of 17 new treatments in 2014.

Even with numbers like that, the task is daunting. According to the Kakkis EveryLife Foundation, 95 percent of rare diseases do not have one single FDA approved drug treatment.

Joining the fight with the biotechnology industry and the FDA are patients and families directly affected by rare disease. Throughout the years, many families and patients have banded together forming rare disease advocacy organizations.

These rare disease groups have been instrumental over the decades in advocating for legislation that encourages the development of treatment and medical devices for rare diseases, channeling research funding to rare diseases and bringing together experts and patients to forward understanding of these complex issues.

Some of the rare disease names you might be familiar with — from ALS and Asperger Syndrome to Crohn’s Disease and Hodgkin Disease. That’s just four of a staggering 7,000 diseases. Most of these primarily genetic disorders sport names unfamiliar to the public like Klippel-Trenaunay-Weber Syndrome and Schnitzler Syndrome.

In the U.S., a disease or disorder is defined as rare when it affects fewer than 200,000 Americans at any given time. Determining what ails them is the first part of the problem for these patients, of which about half are children. It can take more than 7 years and 8 doctors before they get a diagnosis (only after 2 to 3 misdiagnoses), according to a Rare Disease Impact report published by Shire.

The biotechnology industry all across the country works diligently with partners, including rare disease groups to continue uncovering medical breakthroughs and helping patients and their families regain their lives.

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