Rare disease is the number one cause of death in babies under a year. Currently, there are over 7000 rare diseases recorded with the number growing every year. Unfortunately, 95% of all rare diseases have no cure or treatment but you can help to change that.
28 February was the sixth Rare Disease Day at the National Institute of Health (NIH) in Washington DC. Hundreds of people from rare disease foundations around the country gathered to discuss current research, awareness-raising activities, community and organization involvement opportunities, and how you can get more involved in your own healthcare policies and care.
Rare Disease Day also seeks to bring awareness to decision and policy makers, public authorities, industry representatives, researchers, and health professionals about rare diseases and their impact on patients’ lives and their families.
What is a Rare Disease?
A disease is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time or 1 in 2000 in Europe.
Why are Rare Diseases Important?
Because rare diseases are not that rare and growing every year. Today there are over 7000 rare diseases currently registered. It is estimated that between 25-30 million Americans have a rare disease and 300 million people worldwide. If you gathered all those on the planet with a rare disease, it would fill the entire United States.
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Should our government spend time on rare disease issues when there are so many other important things going on?
The short answer is yes. Here are some important statistics why:
- One out of 10 people in America has a rare disease. Chances are you know someone with one right now.
- 95 percent of all rare diseases have no treatment or cure.
- 50 percent of those with a rare disease are children under the age of 18.
- Rare diseases are responsible for 35 percent of all deaths in the first year of life.
- 30 percent will die before their 18 birthday.
- The medical community is finding new rare diseases every year with no treatments or cures.
- Without adequate research in new treatments, rare diseases could soon be just as prolific as cancer.
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Five reasons there is hope for people with a rare disease:
- More companies are investing in rare disease treatments. According to Jonathan Goldsmith, Associate Director or the Rare Disease Program at the FDA, between 1983-2001 there were 82 orphan drug applications for new treatments for rare diseases with 59 designated. in the last seven years, there was 374 application reviewed with 248 designated. More pharmaceutical companies are taking an interest in rare diseases because stronger incentives are being offered.
- The 21st Century Cures Act was passed containing many benefits to the rare disease community. This comprehensive bill enacted laws for patient-focused research in drug development, the Cancer Moonshot, precision medicine research funding, as well as many other laws that will directly benefit those with rare diseases.
- There is hope to get Zika under control. The National Institute of Health is about to go into Phase 2 drug trials for the Zika virus according to Dr. Tony Fauci, Director of the National Institute of Allergy and Infectious Diseases. Zika virus is still on the rise and could potentially cause a pandemic crisis. Funding was increased to $1.2 billion for prevention and treatment. Zika is currently considered a rare disease but that could change quickly if a pandemic of zika where to break out. Other infectious diseases such as ebola, swine flu, and bird flu all started out as rare. With collaborative efforts from multiple agencies, they can be managed effectively.
- The process of rare disease research is speeding up thanks to the zebrafish. Shawn Brugess, Senior Investigator for the Functional Genomics Branch of the NIH says that zebrafish have enough of the same DNA as humans to see direct links to drug research faster. This is because they can quickly breed genomic positive pools as well as reproduce trial results. Zebrafish can also type their genome sequence more effectively and are less expensive to test.
- Rare Diseases are getting organized. Wendy White, Director of Global Genes says that 85 percent of the 7000 rare diseases don’t have an organization or foundation to join. “One strong, organized voice is better heard as a change agent than the chatter of many.” Global Genes is helping to get people together with toolkits on how to set up an organization as well as mentoring for smaller organizations so they can grow. She also suggested that if you don’t have a disease specific foundation to join a support group. “The more people bond together the better heard they will be when trying to effect policy change.”
What you can do to be an agent of change before a rare disease affects someone in your family (especially your children):
- Get your newborn screened – The sooner a child is diagnosed with a rare disease, the better their chances of thriving. States across the nation are begining to screen for a multitude of issues but if yours isn’t one of them, consult your pediatrition to make sure your child is screen so they have the best possible chance of a quality life.
- Stay informed – Find out the latest updates on healthcare legislation currently up for vote or propose your own bill with your local representative if you have an idea that would benefit yourself and others.
- Stay active – Call your local Senator or Congressperson if you feel strongly about a piece of legislation that is up for debate. Politicians really do listen to their constituents and are more accessible than you think.Your voice makes a difference. If you don’t use it, you will lose it.
- Make sure your medical needs get funded – Ask your local representatives to release the funds for 21st Century Cures, fund research of the NIH and onboard much needed personnel of the FDA. Getting the Cures Act passed was monumental, but that was only half the battle. Now we must push to get it funded and staffed.
- Vote – The best way of effect policy is to vote. Only 58% of all eligible voters cast their ballot in the 2016 election. If all that could vote did vote, things would move much faster in Washington because politicians would hear us clearer.
- Get organized – The NRA (National Rifle Association) isn’t as effective as it is because it’s the biggest or has the most money, it’s effective because it’s extremely organized and vocal. Join and support a group or person that has a voice you support. Together we are stronger.
- Be relentless and patient – There are times when the wheels of government move very slowly. Sometimes painfully slowly. Don’t give up. Consistent action pays off. Develop a relationship with policy makers that matter. It’s worth the effort.
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