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Rare Disease Day 2018

Rare Disease Day 2018

Below is the video and transcript of a talk I gave on “the soul of rare disease statistics” at a Rare Disease Day Reception to lawmakers and rare disease families at the Minnesota State Capitol on February 28th, 2018.  I am very thankful to the Minnesota Rare Action Network and the National Organization for Rare Disorders for the opportunity!

 

 

95% of rare diseases do NOT have an FDA approved treatment, and 30% of children living with rare disease will not live to see their 5th birthday.  One rare disease, spinal muscular atrophy, is the number 1 genetic killer of kids under the age of 2. Additionally, 80% of rare diseases are genetic in origin and in total, 1 in 10 Americans are living with some form of rare disease.

That’s a lot of data, but these are the points that are often brought up when discussing rare disease.  Although accurate, these numbers are missing life. Every statistic brings together the lives of many people fighting rare disease in a world that does not offer a lot of options to such patients.  Data is helpful when looking at big picture, but it lacks a soul – a story.

This month I launched a “Rare Stories Interview Series” on my blog, where I’ve had the honor of listening to other rare disease patients tell their story.  In time, I will feature each patient’s story, as means to give faces to these large statistics.  It is my goal to give more rare disease patients the incredible experience of sharing their story with the world while bringing awareness to their conditions.  I created my blog, OwningMyStory.com, just over a year ago, as a way to finally tell my story of life with a rare disease.  As a kid with Ehlers-Danlos Syndrome, I never wanted to talk about this thing that made me different.  However, as I got older, I realized by denying this part of my story, I was losing an opportunity to impact the future of rare diseases.  I was tired of pretending life with a rare disease is easy, and as a result the experience of finally being open about my health and challenges I face was extremely cathartic and increased my confidence immensely.

I wanted to then give other rare disease fighters the chance to feel the power of “owning their story”, especially those who might not have the means of sharing their story any other way.  In a community based on uncommon diseases, stories like this build community.  They make us feel less alone in our fight.  One woman told me “it’s because of advocacy like this that [she] still feels hopeful of the future”  while another said “[they’ve] kept quiet for years about [their] rare disease, and this project is the outlet [they] needed.”

The stories I’m working on represent a small portion of the statistics, but are the soul of the numbers. Our stories give this data meaning.  So, I urge anyone working in rare disease advocacy or health policy to take the time to listen to rare disease patient stories. The rare disease community may sound small, but as we come together to share our stories, our strength grows.  We find power as we realize our stories are more alike than different.

As Brene Brown writes, “When we deny the story, it defines us. When we own the story, we get to write a brave new ending.”  It’s now up to us to write a new ending for the story of rare disease.

Thank you.

 

Rare Stories: Meet Allison

Rare Stories: Meet Allison

 

Imagine someone gently pulls on your arm to get your attention. Only, instead of turning to the person, intense pain erupts as your shoulder is pulled out of place from the simple movement. A situation like this is Allison’s reality and is what led to a doctor referring her for a connective tissue disorder evaluation.

After five years of fighting symptoms, she received a diagnosis of Ehlers-Danlos Syndrome-Hypermobility type (hEDS) and Postural Orthostatic Tachycardia Syndrome (POTS), a form of dysautonomia that causes large heart rate spikes upon standing, among other symptoms. Allison describes EDS as her “joints constantly not being in place” and often jokes that she is like the mom from Disney’s The Incredibles – super stretchy.  This flexibility and joint instability leads to pain, which she often compares to arthritis when describing the condition to adults.

The initial time after diagnosis was particularly challenging for Allison, as she “felt so held down by [her] diagnosis.” Simple tasks, like going up the stairs, became difficult and were a constant a source of frustration.  Although she spoke of these challenges, her fighter spirit was present throughout her interview.

She especially wants others to know she isn’t looking for sympathy or pity when she talks about her conditions.  In her own words, “I’m still strong and kicking butt!” Her rare disease has given her strength and perseverance that helps her conquer her unpredictable days with hEDS and POTS. Allison turns each day into a new challenge for herself, “like what will today bring? You never know whats going to happen, but you can mentally prepare yourself for anything.” Her day to day health management consists of taking a variety of vitamins (deficiencies are common in hEDS/POTS) and using braces or ice packs to help control joint pain and dislocations. 

Allison has learned to not let her conditions drag her down, but instead lets them empower her. She recently began openly talking about her conditions and advocating for others with chronic illnesses. It takes a lot of bravery to open up about the hard moments of our lives, and I applaud Allison for helping others with her experiences!

As many readers know, I am a strong believer that “it takes a village” to be a human in this world, rare disease or not.  Allison says her village consists of her amazing friends, family and boyfriend – who all support her through the good and bad days.  She also gains strength from online communities of other warriors with her conditions, who give her a sense of comfort in knowing she isn’t alone in this fight.

Allison works hard to conquer life with rare disease, and believes the word “UNSTOPPABLE” describes her best. Since her diagnosis, she is most proud of herself for being elected the SkillsUSA Virginia Vice President and has also excelled in many state and local graphic design contests! Nothing holds her back from her dreams and she often refers back to the quote “be fearless in the pursuit of what sets your soul fire” to remind her to bravely pursue her passions. 

Adopting this fighter mentality after a rare disease diagnosis certainly takes time, and Allison wants anyone newly diagnosed with hEDS or POTS to know that:

    “getting diagnosed can sometimes feel like the end of the world, or that your whole life is going to change. But that isn’t always the case. Things will get better and being sick does not mean that you are weak or powerless.  You’re still beautiful and amazing and can do anything you want.”  

You are certainly unstoppable, Allison and I thank you for your bravery in sharing your story! #FightOn

 

Rare Stories: Meet Henry

Rare Stories: Meet Henry

Despite only recently celebrating his 5th birthday, Henry already has developed a strong fighter spirit.  This little warrior has Merosin-Deficient Congenital Muscular Dystrophy and lets nothing get in his way.  CMD can be hard to describe to young children,  but his school counselor has written a story about him that they share with his school classes each year to teach the kids. Henry says he usually just tells his friends his name and “that this is my wheelchair.” Most kids his age think his power wheelchair is super cool and eventually they don’t even notice it – “It’s just me.”

Henry also has a strong support system of family and friends who help him reach his goals and raise money for CMD research.  Although Henry is the inspiration behind “Henry’s Heroes”, a Muscular Dystrophy Association fundraising team, he lists his mom, Stephanie, as his own personal hero.

Henry’s “toys, wheelchair and Mario Brothers” make him most happy.  His wheelchair gives him the freedom of independent movement and lets him keep up with his friends.  He also says his “muscles and superman shirt” help make him strong, but if given the choice, “fire power, flying power and strong power” would be his preferred superpowers.

Henry is showing everyone that his rare disease diagnosis and wheelchair do not define him. He can do anything he puts his mind to and works hard (while having fun) to continue gaining skills in physical and occupational therapy. I’ve always found a child’s perspective on disease and disability to be refreshingly honest and hopeful, and Henry’s view is no different. This 5-year old wants anyone newly diagnosed with Merosin-Deficient Congenital Muscular Dystrophy to know that “it is okay.”  Cue heart melting.

Thanks for letting me tell your story, Henry!