Rare Disease Day : 28 February

Posted on by Zealous Homo sapiens

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. European Organisation for Rare Diseases established this day in 2008 to raise awareness for unknown or overlooked illnesses. According to (EURORDIS), treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases.

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases affect children.

Key Features

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

Common Problems

Lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources across borders. Initiatives such as the European Reference Networks (networks of centres of expertise and healthcare providers that facilitate cross-border research and healthcare), the International Rare Disease Research Consortium and the EU Framework Programme for Research and Innovation Horizon 2020 support international, connected research.

How can things change?

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

Rare Disease Day is a great example of how progress continues to be made, with events being held worldwide each year. Beginning in 2008, when events took place in just 18 countries, Rare Disease Day has taken place every year since, with events being held in more than 90 countries in both 2017 and 2018.

However, the road ahead is long with much progress to be made.

Thank you for reading this. I hope you’ll make this more loud and spread awareness about this to many people as a step towards saving many lives. This awareness about the rarest of diseases will help audience to access information about the various rare diseases and successfully diagnose it through proper medical treatment. Let us all join hands and continue this chain. Please reblog this post or make your own so that we can reach to maximum people. This is the least we can do and I hope you’ll take a step forward and contribute to increase consciousness.

41 thoughts on “Rare Disease Day : 28 February”

  2. Pingback: Rare Disease Day : 28 February — When an introvert speaks – ravi singh

  3. Superb! Very informative post and i thank you for sharing it.I have reblogged your post to enable maximum people take benefit of reading this post!

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    1. So well said and so true. There is so much more to improve upon especially in the health sector. Poor availability and accesability to medicines and proper diagnose had only added to the misery in people’s life. Thank you for sharing your thoughts.

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  6. I’m glad you commented on my blog. It drew my attention to yours. Your post is timely. Only the other day I came across an article in the SMH on Carly Findlay who has a very rare disease called Ichthyosis, characterized by dry, scaly skin and in Carly’s case by a redness characteristic of severe sunburn. There is a podcast featuring Carly talking about the disease, how it affects her and the response to her memoir, just released, called ‘Say Hello’

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    1. You have an amazing content, with so much new to know! Keep writing such resourceful posts!
      I too have read some inspiring stories of people who suffer from a rare disease and are currently being diagnosed. Here is one that I would like to share:

      Hello, my name is Josiah David O’Neal! I am just ten years old! A little over a year ago I was diagnosed with MPS111A/Sanfilippo Syndrome Type A! Mirroring the many effects, and displaying similar characteristics to Autism, I was misdiagnosed for the first 8 years of my life! Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is a devastating neurodegenerative lysosomal storage disorder of childhood. The cause of MPS III is an inherited mutation in one of four enzymes required to catabolize heparan sulfate (HS) The enzyme that I am missing is meant to breaks down sugars! Therefore my body stores these GAGS (Garbage) effecting everything within my body, but mostly my brain! Many medical professionals refer to this as a sort of “Childhood Alzheimer’s.”

      Life expectancy of a child suffering from Sanfilippo is 12-15 years of age! Over the last year I have slowly began to loose many of the things I once did! Now in a wheelchair, I struggle everyday to stand up & take just a few steps! I love to run and play, now I am fully assisted! Sanfilippo only effect 1/70,000 children! If you know someone searching for answers about their child, and they continue to get a diagnosis of “Autism” yet they know in their heart something is not right, please refer them to a geneticist! My family had no idea what Sanfilippo was before I was diagnosed! Now we live everyday for today, and I am still he happiest little boy you ever will see!

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      1. Yes! I’ve learned that the root of disease is problems in the gut. That’s why spreading the word about The Plant Paradox is so important. Dr. Gundry’s new book will be The Longevity Paradox. My health problems have disappeared, and I’m passionate about helping others return to their best health, as well.

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  15. Hi thank-you for your compliment on my poetry. I think what my daughter has run into here is that Doctors aren’t being taught a lot of things…A lot of them are female related. So when she goes in she’s always frustrated…A lot of them are Autoimmunity related. Great blog.

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Published by Zealous Homo sapiens

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