ArtsAutosBooksBusinessEducationEntertainmentFamilyFashionFoodGamesGenderHealthHolidaysHomeHubPagesPersonal FinancePetsPoliticsReligionSportsTechnologyTravel

Rare Disease Truths

Updated on October 10, 2014

Rare Disease Truths



I want to change the way you think of rare and rare diseases. Most people see the word rare as almost never happening, a sliver of a chance to not worry about. Truth is, 1 in 10 people (25 million in U.S.-350 million world wide) have a rare disease. With these numbers, it can be assumed that we all know someone who has one of these so called rare diseases. Doesn’t seem so rare anymore to me.


Another startling fact is that 30 percent of children who have a rare disease, will not make it to their 5th birthday. Almost all rare diseases are genetic and will be with the person their whole life, even though symptoms may not come up for years. Like a sleeping dragon waiting to rear it’s ugly head.


While the definition of rare diseases is still up in the air, The Rare Disease Act of 2002 describes it as less than 200,000 cases in the United States or (1 in 1500) They have also been coined “orphan diseases” for their lack of funding and research. The government has tried to boost research to diseases the companies have no hope of gaining their money back through sales by pass the Orphan Drug Act of 1983. However there is still so little known on so many diseases and frankly there is just no money for research. The only action is awareness. Awareness hopefully bringing funding.


As with the definition, the actual number of rare diseases is also subjective. Some estimate 5000-7000 known rare diseases. With only one known case, ribose-5-phosphate isomerase deficiency is known as the rarest genetic disease. So however subjective it may be, one can agree that it is not very rare in the big picture. The sheer amount of these diseases makes it hard for researchers to find funding, not to mention the lower number of patients to learn from.


The first Rare Disease Day was held in several countries on the last day of February in 2008. A small step that has been needed for a long time. Awareness and funding will bring research that will one day answer the questions and hopefully find cures, or at least better treatment methods.


I personally view rare diseases differently now because I myself have one. I was diagnosed with Idiopatic (Unknown Cause) Intracranial Hypertension (raised cranial pressure) At diagnosis, it was called Psuedo (like) Tumor Cerebri (Brain). It occurs in less than 1-100,000 people (U.S), although it is can occur in less than 1-1,000,000 in other countries around the world. The saddest part about the diagnosis was the lack of information.


I was pregnant at the time and I had to take Class C medication that had unknown side effects. I was lucky though, I did not need surgery to put a shunt in my head that has a 80% redo statistic. I am the lucky one who was gained reprieve from the chronic debilitating pain and side effects of horrid drugs. To that I am grateful, but have not forgotten, as it is not so easy to forget. I write this in awareness and to maybe change your view on “rare diseases,” as 1-10 people having one, it affects us all in one way or another. If someone close to you or even in passing daily, take the moment to learn about them. If that can not be accomplished, at least consider a bit more empathy. Be thankful you are not the 10% directly affecting and know that just because you don’t understand, does not mean you can’t have empathy for what that person is going through.


Comments

    0 of 8192 characters used
    Post Comment

    • JT Walters profile image

      JT Walters 

      7 years ago from Florida

      Hi,

      We have rare diseases as well and the last decade hs been horrific because when my son was born what he had had did not even have a diagnostic code. We still live a deslate area for medical services and must travel all over. They did not believe he would live past two, My son is almost 12. I think when the science is complete in Autism they will recognize it is also a rare disaese caused my a metabolic imbalance that has gone grossly undetected IMO.

      Great educational informative hub.

      JT

    working

    This website uses cookies

    As a user in the EEA, your approval is needed on a few things. To provide a better website experience, hubpages.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

    For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://hubpages.com/privacy-policy#gdpr

    Show Details
    Necessary
    HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
    LoginThis is necessary to sign in to the HubPages Service.
    Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
    AkismetThis is used to detect comment spam. (Privacy Policy)
    HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
    HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
    Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
    CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
    Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
    Features
    Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
    Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
    Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
    Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
    Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
    VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
    PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
    Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
    MavenThis supports the Maven widget and search functionality. (Privacy Policy)
    Marketing
    Google AdSenseThis is an ad network. (Privacy Policy)
    Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
    Index ExchangeThis is an ad network. (Privacy Policy)
    SovrnThis is an ad network. (Privacy Policy)
    Facebook AdsThis is an ad network. (Privacy Policy)
    Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
    AppNexusThis is an ad network. (Privacy Policy)
    OpenxThis is an ad network. (Privacy Policy)
    Rubicon ProjectThis is an ad network. (Privacy Policy)
    TripleLiftThis is an ad network. (Privacy Policy)
    Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
    Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
    Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
    Statistics
    Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
    ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
    Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)