Rare Disease Day

by Ariana Sadoughi. 0 Comments

It is common knowledge that Feb. 29 is Leap Day but not as many people are aware of another holiday that will occur this year on the last day of the month: Rare Disease Day.

Rare Disease Day is celebrated on the last day of February all over the world to spread the word about rare diseases. This is the fourth rare disease day in the world, and the third celebrated in the United States.

A rare disease is characterized as a disease that affects less than 1 in 200,000 people, or .000005 percent. This statistic might seem small. However, if there are about 7,000 rare diseases in the United States, 30 million Americans are suffering from one, or 1 out of 10 people.

A person with a rare disease must not only deal with health issues but many of them are lacking in proper diagnosis or treatment. The big issue with rare diseases is really that they are rare. There is not as much information that scientists can use to conduct research, and they usually do not have proper funding to do the necessary research.

As I write this, a little boy that I knew is being buried after a courageous fight with a rare disease. He had Battens disease which is an autosomal recessive neurodegenerative disorder. In other words, neurons, or nerve cells, will slowly lose their functioning capabilities. Among many symptoms, children with Battens progressively lose their sight, speech and motor skills along with mental impairment and regular seizures. This special boy was well known in our community and already is missed by many, but he will be remembered forever.

Many of us know people who are fighting a rare disease or have passed on from complications of one. After seeing someone suffer from a rare disease, one would never want to see others suffering for the same reason.

Rare disease communities are small but usually very active. Still, these groups are not able to properly raise money for research.

As mentioned earlier, research is made more difficult due to this lack of funding. Experiments cannot be run without money, and groups can only raise so much money.

Additional funding is left to the government to cover. But the government isn't able to cover the bill in many cases. With a limited budget, it is very difficult for them to provide money to individual groups while there are thousands of diseases that need a cure.

Until the government is able to fund more research, it is up to the rest of us to raise money to allow this research to go on. There are many places that one is able to contribute money to. If you look up any rare disease you are likely to find a website that is welcome to donations.

Other ways to help is by spreading advocacy about rare diseases. Educating others is the best way to help.

And like the Rare Disease Day motto states, Alone we are rare. Together we are strong.

For more information, visit rarediseaseday.organd bdsra.org.

Ariana Sadoughi writes a regular column for fredericknewspost.com.

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