Rare Disease Day 2014

Across North America and Europe more than 60 million patients have been diagnosed with one or more of the 6000+ "rare" diseases. If you were to broaden the inquiry to encompass the world you would need to add millions more. Almost every patient has family or friends that help them. I think it would be safe to say that worldwide, more than 1 billion people are affected by rare diseases!! That is staggering to think about! About half of those affected are children.
 
So what exactly is a rare disease? In the European Union, a rare disease is one affecting fewer than 1 in 2000 patients. In the United States, it is defined as affecting fewer than 200,000 Americans at any given time.

Symptoms vary, not just between diseases, but also largely from patient to patient with the same diagnosis. 80% of rare diseases have identified genetic origins. The remaining 20% result from infections (both viral and bacterial), allergies and environment, and most are degenerative and proliferate.
Misdiagnosis is a major problem for rare diseases, often because a common symptom will hide the underlying disease.  In Pulmonary Hypertension patients, we are often diagnosed early on as having asthma, or COPD. Lupus patients are frequently thought to have the flu in the early stages of diagnosis, or simply an allergy.

What is Rare Disease Day? Rare Disease Day began in Europe in 2008, coordinated by EURODIS on the international level, and National Alliances and Patient Organizations (“umbrella organizations that regroup several rare disease organizations in a given country or region”) on a regional level. The goal for the campaign is to raise awareness, mainly in the general public, about the impact of rare diseases. Last year, in 2013, more than 70 countries participated, with more expected this year. This year’s objective is “for WHO (World Health Organization) to recognize the last day of February as the official Rare Disease Day and raise increasing awareness for Rare Diseases worldwide.” 

Join Together for Better Care! Caring for those living with a rare disease is multi-faceted, requiring medication, physical assistance or equipment, medical consult, physical therapy, social services, respite for the family, and more. Worldwide there is a broad lack of scientific knowledge and quality information on rare diseases, resulting in delayed diagnosis, along with increased financial and social burdens.
Because of the increased awareness created by campaigns like Rare Disease Day things have gotten, and can continue to get, better! Awareness of rare diseases has allowed the implementation of more comprehensive approach to care. Better public health policies have been developed across the world. Cooperation in clinical and scientific research and an international sharing of scientific knowledge on all rare diseases has led to the development of new diagnostic and therapeutic procedures!

Now, how can you get involved? There are several ways YOU can get involved, and increase awareness… without even leaving your desk!

            Become a Friend- www.rarediseaseday.org/become-a-friend/

Patient organizations, health care professionals, drug developers, public authorities, and any association with an interest in rare diseases are encouraged to become Friends of Rare Disease Day! Just fill out the form, and join the network!

            Raise and Join Hands- www.rarediseaseday.org/join-your-hands/

Raise your hands in a symbolic gesture before The Day to show your solidarity with rare disease patients, take a picture, and upload it to the site!

            Tell Your Story- www.rarediseaseday.org/tell-your-story/

Tell us how your life has been affected by a rare disease, share words of encouragement, or an uplifting story.

Download and Share Communications Material- www.rarediseaseday.org/get-involved-download-our-communication-materials/

Social Media-

            Facebook- www.facebook.com/rarediseaseday

            Twitter- www.twitter.com/rarediseaseday

            YouTube- www.youtube.com/rarediseaseday

            Flicker- www.flicker.com/rarediseaseday

            Thunderclap- www.thunderclap.it/projects/8543-rare-disease-day2014-feb-28

                                    Wait… what’s that?!

Share a single message (In this case “Today is #RareDisease Day, the day to put rare diseases in the spotlit! Show your solidarity today http://thndr.it/1fkAYmz”) simultaneously in one THUNDERCLAP of awareness!

Want to learn more? Go to www.rarediseaseday.org for more information on Rare Disease Day, for a list of sponsors, and to become involved.

Tweeting About Scleroderma Is Not Just About Scleroderma

By Karen Vasquez, www.themightyturtle.com

June 3rd, we’re going to get #Scleroderma to trend world wide.  I did not say, “might”, or “we are going to try”.  We will do this.  Scleroderma will trend.  Because as Yoda said, “Do or donot.  There is no try.”

Oh my God, WE’RE ALL GOING TO DIE!!!!

When I was diagnosed with scleroderma in 1994, I was told by doctors I could drink and shop all I wanted, because I was most likely gong to die. For a few years, that’s exactly what I did.
 I figured out that what the doctors said was partially true:  I was going to die.  What I forgot was, someday, we’re all going to die.  I know.  You’re shocked.  Someday, we are all going to die.  We are not going to live forever.  I know you just placed the back of your hand on your forehead, gasped and retreated to the fainting couch.  That’s okay.  I can wait…
Welcome back.  So, scleroderma and Sarcoidosis, along with God knows what else has been progressively killing me, for 20 years, so far.  Surprise!   I’m still here.   And it might not kill me.  I could have a total meltdown and cry that my life is over because my body is slowly hardening like the fiberglass epoxy and lead based paint I worked with while I was in the Navy.  I could have a melt down, wander in the street blinded by my own tears and get hit by a bus.  Living every day like it is your last is stupid.  I hate that song by the way.   I learned from my grandfather, never say goodbye.  It’s always so-long, because we will always meet again.  Here on this plane of existence or another.  Bite me Tim McGraw.   (Seriously, if you ever divorce Faith, give me a call and bite me.  I would totally be your rebound FWB.  Sorry Tim,  I can’t be in a committed relationship with someone who lives like they are dying.)

So I reached out and touched some people, and not on OkCupid.  Well, mostly…
In 2009, I finally started writing and reaching out to others.  Since that time I have become exponentially healthier mentally.  For years, I felt like my diagnoses had taken away my life.  scleroderma and sarcoidosis took away many things, but it did not take away my life.  Yes, I missed many things because of too many things medical to list here.  I have had pain and damage to my body that at times sends me to a quiet place to cry.  So, I learned to feel those feelings, express them, get up and get on with it.  We all have challenges in life and experience pain in many ways.  No condition is less valid than another.  And the past 20 years of my 42 (Yes, I do give my age.  I am proud of every year & every wrinkle.)  I have the greatest gift of all, my son.  It was a huge risk, I almost died, but what I had, could have happened without scleroderma.   A rheumatologist I had at the time was also pregnant.  She told me to watch my blood pressure because of my age.  I had a one in a million chance of complications.  So, of course, I had HELLP syndrome. I should really consider playing the Lottery.  Living a full life does not happen without risks.  We don’t have to have kids to live a full life.  We need to live our life in the now take step out of our comfort zone with some risks.

We have a lot in common, but we are not the same.Through the magic of the interwebs, I met fellow patients with different diagnoses, but shared experiences. No. I don’t think we should all fall under the same umbrella.  We need to maintain our identity to raise awareness about specific diagnoses and new symptoms.

Why June 3rd is not just about scleroderma.
Scleroderma is a classified by a group of specific symptoms occurring at the same time.  

    PulmonaryHypertension
    Esophageal Reflux 
    Interstial Lung Disease 
    Dyspnea
    Vasculitis

You know what?  You and I don’t have time for all of this.  Go to SclerodermaResearch.org, SclerodermaCare.org FESCA.org or SclerodermaCareFoundation.org.  Just google it.

Get to the point already.
Not everyone is on Twitter, but what happens on Twitter, makes the news.  And because all 7 billion of earth’s population is not on Twitter, that makes our goal of getting #scleroderma to trend, a possibility.  On June 3rd, getting #scleroderma to trend will be a reality and we need your help.

June 3rd is Monday.  Don’t people have to work?
Yes, a majority of people will be working.  The odds of one being in front of a computer are high.  Why not use this  noble cause to mask that Monday visit to I canHaz  Cheeseburger?

You can’t Tweet from you computer at work , you say?  You don’t have to break the rules, use your phone!
I know that all of you reading this post right now, would never dream of using work time to play around on Twitter, but I do know you could squeeze it into a break.  So ,when you step away from the hustle and bustle, and tweet from your phone. Download the app to your phone.   Follow the prompts.  Ask a friend.  Call tech support.  It’s FREE to tweet!  Use that alarm app you never use to remind yourself to tweet.

You can set up automated tweets, free!
If you would really like to get into the spirit, download Tweetdeck app to your computer.  Yes, it does work on a Mac.  I use it on mine, and unlike Hootsuite, it’s free.

Short on time or don’t know what to say?  No worries!  Retweet!
You can go to @TurtleMighty, @Short_of_Breath, @pixiecd13, @srfcure, @bouncetoacure, @TreatmentDiaries @sclerodermatt, or any Twitter person in this list: Let’s Set The Trend https://twitter.com/TurtleMighty/set-the-trend/members and Retweet anything with only the tag #scleroderma in it.  Stay away from anything that says miracle cures.  There will be snake oil.  But if snake oil sneaks in, it will only improve our numbers, so don’t sweat it if you accidentally RT some snake oil.  They try to look legit, but they are not fooling anyone.  (Yes, I am talking to you @Trips to Jordan!)

Why ONLY #scleroderma?
The goal of a tweet is to get the most info in the least amount of characters.  We can do that.  Our goal June 3rd is to get #scleroderma to trend. There is no second place, no runners up and no one organization or foundation directly benefits financially from this.  Make no mistake, non-profits have everything to gain by participating. We will ALL be a part of #scleroderma breaking through the confines of Twitter into the mainstream media.   Foundations who do tweet about #scleroderma get the bragging rights to say they participated.  They can get their name out there before World Scleroderma Day, June 29, so people know what scleroderma is, who they are ad what they do.  Non-profits can tell patients, caregivers and the world that they know that we are all in this together, understand that we all stand on the shoulders of giants.  Research of just one disease helps patients with different diagnoses.  One great example:  Beneylysta, the first FDA approved treatment for Lupus, EVER, is now being researched to treat Vasculitis:  a condition where the body's immune system attacks blood vessels. Sound familiar?  Yeah, it’s a condition of patients with scleroderma.  Like I said:  Different names, same team.  You are already on the team.  Play in the giant sandbox that is Twitter with us, June 3rd and set the trend.-
KarenVasquez