Did you know that rare diseases aren’t really rare at all? 1 in 10 Americans has a rare disease! A rare disease or condition is one that is seen in fewer than 200,000 Americans (or 2,000 Europeans). Rare disease is difficult to diagnose, and patients may wait a long time for answers. Even when a diagnosis is reached, most rare diseases are genetic, and have no FDA approved treatment or cure.

This year’s theme for World Rare Disease Day is research. Medical research is important to advance knowledge and treatment options for all medical conditions, but it is especially important to advocate for research into rare disease because it can sometimes be forgotten. World Rare Disease Day (the last day of February of each year) is a time for rare disease patients and their loved ones to come together in order to be heard as one group, recognize our commonalities, and advocate and raise awareness together.

My Rare Conditions:

  • Ehlers-Danlos Syndrome (EDS) – A genetic disease of the connective tissue that causes widespread instability and pain throughout the body. Although I have it all of my life, my EDS was not diagnosed until last year, when I was 28 yrs old.
  • Hemiplegic Migraine – A rare type of migraine that can either be hereditary (Familial Hemiplegic Migraine) or it can occur spontaneously (Sporadic Hemiplegic Migraine). People with Hemiplegic Migraine experience symptoms such as one-sided numbness and weakness that mimic a stroke. They may experience other prolonged aura symptoms, or have symptoms of meningitis (without the infection). Impaired consciousness and ataxia (decreased muscle coordination) are also common during an attack. People with HM generally also have more classic migraine symptoms such as headpain, nausea/vomiting, and sensitivity to noise and sound.

I am lucky that while there is no cure for my EDS (or any of the co-morbid conditions that accompany it) or Hemiplegic (and other types of) Migraine, there are treatments available for both and they are generally not life-threatening conditions. Many rare diseases (including the Vascular form of Ehlers-Danlos Syndrome) can be fatal.

Get Involved:

There are many ways to get involved, from joining the conversation on social media, to advocating on capitol hill.

  • Wear Blue Jeans (or a #Jeans4Genes Ribbon) to show that you care on 2/28/2017
  • Find Local Events
  • Join the Handprints Across America Campaign (If you are in the US) by changing your profile picture/cover photo or taking a picture with the Handprints Across America Campaign and sharing why you’re honoring World Rare Disease Day
  • Join The Rare Action Network (If you are in the US)
  • Use hashtags like #WorldRareDiseaseDay #RareDiseaseDay #WRDD17 #CareAboutRare #RARE #raredisease #Jeans4Genes and #GlobalGenes on social media

 

Rare Disease Resources: