What is a Rare Disease?

February 28th is world Rare Disease Day!


When I was diagnosed I didn't know MG was classified as a rare disease. Here are some answers I found to the questions I had about rare diseases from scholarly articles.

What classifies as a rare disease?
Simply put, very few people have been diagnosed with a specific type of disease i.e. Myasthenia Gravis. 

More scientifically,
1) A disease must have a prevalence of <200,000 persons in the U.S. 
2) The Orphan Drug Act also defines diseases as “rare” if they affect more than 200,000 persons in the U.S. if “…there is no reasonable expectation that the cost of developing and making available in the U.S. a drug for such disease or condition will be recovered from sales in the U.S. of such drug.” Therefore the costs to making a cure/treatment of this disease would not be recuperated if they sold it in America. A disease like diabetes would therefore not be considered.

How many rare diseases are there? 
It is estimated that over 7000 rare diseases affect an estimated 25-30 million people in the U.S. (8-12% of the population) Click here for a list of rare diseases


What can be done? 

1) Research 
The Orphan Drug Act (Public Law 97-414) Offers various incentives and support for those researching rare diseases and developing new drugs to prevent, treat or diagnose rare diseases. While The Safe Medical Devices Act of 1990 assists those making treatment devices, alternative treatments or allied health treatments of rare diseases are not given special privileges. Therefore we see few treatment protocols for rare diseases for i.e. Occupational/Speech/Physio - therapy.

2) Clinical Trials 
Since the number of those diagnosed is small, clinical trials often struggle to get participants. Why not register with a rare disease organisation. You can ask to be informed of new trials and if you consider the trial, safe participate. 

Rare Bear Project - www.rarediseases.co.za

3) Support 
Too often those that are already diagnosed and suffering from these conditions are forgotten.
Why not get involved in working with patient advocacy groups to raise awareness, generate funding for research and extend a helping hand to those in need. National Organisation for Rare Diseases is a great place to find an opportunity to help!

Why not start this year by wearing your Jeans on February 28th! Remember to post a picture. #Jeans4genes 


References: 
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3134795/
https://www.ncbi.nlm.nih.gov/pubmed/23880676
https://www.hon.ch/HONselect/RareDiseases/ 
https://rarediseases.org 
www.rarediseases.co.za 

Comments

  1. Great post xoxo I also highlight Rare Disease Day for Spinal Muscular Atrophy

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    Replies
    1. Thanks Kelly! Let's keep spreading the awarness!

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  2. This is a great post, very informative and supporting! Will be wearing our jeans tomorrow! Thank you for sharing!

    Jessica & James | foodandbaker.co.uk

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    Replies
    1. Whoop whoop remember to take a pic and tweet #jeans4genes

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  3. Hi, great informative read highlighting Rare Disease Day. Lets hope lots of people will be wearing their jeans tomorrow, Chloe #TeacupClub

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    Replies
    1. Thanks Chloe! I'll be on the look out for all those in Jeans

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  4. I've never heard of MG before. The statistic of 25-30 millions people you have given are 25-30 million people that need a lot of recognition

    Tasha x

    http://itsatashathing.blogspot.co.uk/2017/02/new-series-sharing-love.html

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    Replies
    1. Thanks Natasha! #IhaveheardofMG will be glad to see this comment

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  5. Getting my jeans out for tomorrow! While it's known as rare, 25-30 million people is still a huge number! I've learned a lot from this, thank you x

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    Replies
    1. As far as I know it's 1 in 10 in the UK. So many people that have invisible and rare diseases. It's a pleasure

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  6. This is a wonderful and educating post! Thank you for helping spread awareness 🙂

    -amy
    www.scarielsgrotto.com 💜✨

    ReplyDelete

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