Rare Disease Activities at Sanford Research

by Liz Donohue

Coordination of Rare Diseases at Sanford (CoRDS)
Sanford Children’s Health Research Center

Last week I went back to high school.

My friend and co-worker, Paola Vermeer, a scientist studying head and neck cancer at Sanford Research, was presenting to junior high and high school students during their school assembly. But this was not just any presentation.

Paola, or Pay was talking about a rare disease, called Multiple System Atrophy.

Pay’s mother recently passed away from Multiple System Atrophy, a progressive, neurodegenerative disease commonly referred to as MSA that she had been battling for 9 years. This was a very painful experience for their family as Pay’s mother was healthy at age sixty. Her health went into significant decline in the last 2 years. Pay created a YouTube video that outlined this decline and the challenges they faced so she could share the experience with others who may be struggling to support a loved one with MSA.

Pay is brilliant. With a PhD in developmental neurobiology, she is an expert in her area of research. But what was absolutely amazing is how she intrigued and mobilized over 400 junior high and high school kids at 8:00 am last Thursday morning by talking about a complex neurological disease that affects only 50,000 people in the country.

Pay would say it was the candy or treats she handed to students that incentivized students to come down from their perches in the bleachers to participate in an activity but I have to disagree. It was a series of well thought out events that made it a successful learning experience for these students.

Pay started by asking students to come down and form a circle if they knew anyone with Breast Cancer. She moved down the list from more prevalent diseases like Diabetes, Colon Cancer, Parkinsons Disease to rare diseases Duchenne Muscular Dystrophy and Cockayne Syndrome. She explained how unrelated diseases such as cancer and Parkinsons Disease actually have more in common than we think and by studying one, we learn about the other.

Next was the amazing video created by Jeans for Genes, of a darling 6 year old girl named Ellie who explains Cockayne Syndrome, a rare genetic disease affecting her younger brother, Tom. In a cute British accent, Ellie explains that Cockayne Syndrome is an autosomal recessive genetic disorder that Tom has, which makes his life harder. If you haven’t seen it already, it is truly a must-see.

Then came Tim’s Shoe, a globe-trotting Nike Sneaker made famous by a group of teenage kids who played a prank on their friend Tim. Like Paola’s presentation, there is more to Tim’s shoe than what meets the eye. Tim’s shoe raises awareness for MSA everywhere it goes as it is covered with personal mementos from everyone who sees it.  Anywhere Tim’s shoe goes, it is photographed and posted to the Tim’s Shoe Facebook page. Since arriving in Sioux Falls it has not been further than 50 ft from Pay since she requested it be sent from her friend Rita in Belgium. Pay has taken Tim’s Shoe to schools, research centers, support groups, and medical centers. The goal is to raise awareness that MSA may be under-diagnosed or mis-diagnosed, that there are no treatments, and that although the disease may be rare, that doesn’t make it any less important than a disease that is common – three elements that are shared by people with rare diseases/three comments that I hear so often when contacted by patients and families of rare diseases about the CoRDS Registry.

Pay’s message to the students was simple and clear:  It is not RARE when you are affected by a rare disease. Once you are affected by a rare disease, it is no longer rare to you.  Rare is only a matter of perspective. What Tim’s friends have done with his shoe for MSA is an example to all of us.  You don’t need to do something expensive or flashy to be extraordinary and impact people the world over. It is a message to set aside complacency and become active in and around your community. Ignore that voice inside that says “what can I do?  I’m only one person?” because Tim’s friends prove that you can impact people, you don’t need the support of an institution, organization or foundation. YOU as an individual can make a difference, no matter your age or the resources you have.

Tim’s shoe was not fancy, expensive, or time-intensive but has been incredibly effective at reaching many people thanks to our digital age of camera phones and social media.  Currently Tim’s Shoe has 2000 Facebook followers, numerous YouTube videos, and thousands of images and has reached thousands of people. It is awareness campaigns like Tim’s shoe that open up communication lines to talk about rare diseases, empower patients to share their story, mobilize individuals to raise money to fund much-needed biomedical research that will help us understand the etiology of these rare diseases so we can develop better treatments and ultimately cures for these devastating conditions.

Last Thursday afternoon, we heard from the principal of the school.  Apparently several fruitful discussions took place in the classroom and not surprisingly it was not only about the delicious candy. Rather, it was discussion about rare diseases: teachers and students sharing stories about knowing someone affected by a rare disease and even students expressing interested in future careers in biomedical research.

Pay is just one person and limited time. Tim’s friends did not have many resources, either. However, they all saw how devastating MSA is to an individual and their families and wanted to increase awareness of this devastating condition to help those who are affected by MSA. They used a simple idea, took action and changed the world…. and so can you.  With Rare Disease Day coming up, there are many things you can do to raise awareness for any or all of the 7000 rare diseases that affect  nearly 1 in 10 Americans that are affected by a rare disease. 

My list of TOP 5 easy ways to raise awareness for Rare Diseases:

  1. Watch the video narrated by Ellie provided by Jeans for Genes  in your / your child’s classroom
  2. Take a photo of your denim jeans and post to Global Genes Project  on Facebook / Learn more about Global Genes Project here.
  3. Use classroom lessons or activities on genetics developed by our friends at SanfordPROMISE, Sanford CoRDS, and the Office of Rare Disease Research — NIH Curriculum Supplement Series.
  4. Visit NORD and print off a Handprints Across America sign. Take pictures wherever you go and post them to your Facebook wall. We started doing this at Sanford Research and posted to Sanford CoRDS Facebook page it has been a huge hit!
  5. Join the conversation on Twitter. Learn more about rare diseases and organizations and efforts dedicated to rare diseases. Tweet, Tweet and Retweet! To get you started, here are a few to follow: Sanford CoRDS (@SanfordCoRDS), Office of Rare Disease Research (@ORDR), RARE Project (@RAREProject), RareDiseaseDay (@RareDiseaseDay), Inspire (@TeamInspire), MarbleRoad (@MarbleRoad). Don’t forget your hashtags: #raredisease, #1mil4Rare, #RDD2012.

A list of Rare Disease activities at Sanford Research this month

February 6 – Executive Proclamation of 2/29/2012 as Rare Disease Day City Hall in Sioux Falls, South Dakota.

February 11 – Radio Show on KSOO’s A Better You

February  13 – Radio Show on KSOO’s Viewpoint University

February 252nd Annual Sanford Rare Disease Symposium & Life Science Discovery Program (LSDP) at the Sanford PROMISE lab

February 29 – Global and National Rare Disease Day. Join @SanfordCoRDS for a Tweet Chat at Noon CST.

We want to hear your ideas for Rare Disease Day!

Post your ideas on our Facebook Wall (Sanford CoRDS) or Tweet to @SanfordCoRDS. Feel free to contact Liz Donohue directly at Email cords@sanfordhealth.org or visit their website at www.sanfordresearch.org/cords.

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~ by marbleroad on February 16, 2012.

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