"It's All In The Genes!"


RARE DISEASE DAY 2017 brings awareness to approximately 30 million Americans living with one, or more of the estimated 7000 rare diseases, statistically equivalent to 10%, or 1 in 10 people, of The United States population.                         www.globalgenes.org/raredaily/raredisease-facts-and-figures

Provided below are 15 facts about rare diseases to shed light why Rare Disease Day is significant to so many people worldwide:

15 Facts about Rare Diseases:

  1. To be characterized as a rare disease less than 200,000 people have been diagnosed with the disease.
  2. Genetics or ‘faulty genes’ is associated with approximately 80% of rare diseases.
  3. 20% of rare diseases are due to environmental factors, allergies, viral and bacterial infections.
  4. It is not uncommon to for patients to go undiagnosed or to be misdiagnosed for 10 years or longer.
  5. 50% of rare disease patients are children and 30% will not live past their first birthday,
  6. Rare diseases are responsible for 35% of deaths in the first year of life.
  7. Worldwide 350 million people were living with a rare disease in 2016; this is enough people to populate a large third world country.
  8. Rare disease patients often have more than one rare disease diagnosis due to altered immune systems.
  9. 95% of rare diseases have not received approval for a FDA drug treatment option; according to Kakkis EveryLife Foundation.
  10. Medications for misdiagnoses, treatments, diagnostic testing, doctor appointments, visiting specialist, therapists and treatment plans often burden families financially.
  11. Rare disease patients will often suffer from depression, anxiety, low self-esteem, lack of motivation, suicidal thoughts or attempts.
  12. Patients with rare diseases symptoms will vary person to person with the same disease further contributing to the difficulty to correctly diagnosis.
  13. The first 25 years of the Orphan Drug Act(passed in 1983), there have only been 326 new drugs approved by the FDA to market for all rare disease patients combined.
  14. Approximately 50% of all rare diseases do not have specific foundational support for researching their disease.
  15. 6% of inquires made to Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease each year. Although not all rare disease are life threatening, they are all life altering, and the vast majority of rare diseases are incurable.

Listed are ten rare diseases more commonly recognized by the name:

  1. Narcolepsy
  2. Ehlers Danlos Syndrome
  3. Wilson Disease
  4. Gullain-Barre Syndrome
  5. Alopecia Universalis
  6. Graves’ Disease
  7. Gigantism
  8. Cushing’s Syndrome
  9. Fragile X Syndrome
  10. Lou Gehrig’s Disease

More information on the referenced diseases and other rare diseases affecting 1 in 10 Americans today visit:                                                                                             National Organization of Rare Diseases http://www.nord.com                                        Rare Diseases www.rarediseases.info.nih.gov                                                              Rare Disease Day Organization www.rarediseaseday.com

Additionally a vast majority of cancers are classified as rare and incurable diseases.


Each year the number of rare diseases and patients continue to increase. As the number of diseases and patients with rare diseases rise, the probability of having or knowing someone with one also increases.  The awareness initiative for Rare Disease Day is to drive changes in healthcare policies, help families and patients, educate healthcare providers and most importantly motivate those with rare diseases to fight, promote awareness to all rare diseases by sharing their story and connecting individuals worldwide together for support.    


In 2008, EURORDIS Rare Disease Day Europe began their initiative, along with 18 other countries to promote awareness for individuals with rare diseases. The United States of America joined in the Rare Disease Campaign, providing the advocacy organization an international platform, in 2009.   Rare Disease Day 2016, 80 events were held throughout 35 states involving communities, state legislators and healthcare professionals. Today over 90 countries worldwide are participants of Rare Disease Day.  Rare Disease Day is recognized each year on the last Tuesday of February.  

To learn more about Rare Disease Day visit www.rarediseaseday.org.


TODAY I STAND with the rare disease community, not only in support of advocating further awareness and understanding but as a rare disease fighter, diagnosed with Narcolepsy in February of 2010 and Ehlers Danlos Syndrome in 2011, both treatable but incurable.

My diseases may be considered “rare” but I stand alongside the millions battling their own rare disease(s) and together we are one large rare group of individuals who do not have to feel alone and hopeless; together we stand strong as one!

Thank you to all who acknowledge and/or support Rare Disease Day!

 -Tonya Steele

Cheatham News (c) 2017