Saturday, January 31, 2015

"Are You Serious?" Awards - Volume XLII: The "Who Cares About Rare" Edition

We have a dark little joke in our household...

You know those fractions of a percent they quote you with medical statistics?  THAT'S where our family lives!

While we joke about it to lighten the journey, life as a family facing rare disease can be complex.

For instance, when our son was diagnosed with Hemophilia A - Severe at birth, our pediatrician's comment was, "Well, we will be learning about this together."  With only an estimated 17,000 out of 320 million people in the United States diagnosed with hemophilia, more myths and ignorance circulate about this bleeding disorder than awareness and knowledge.

In addition, the treatment for such a disorder is just about as rare as the disorder itself.  You cannot just stop at the local pharmacy to pick up a medication and swallow it down.  This makes the clotting factor we administer to our son intravenously every-other-day at home incredibly expensive, currently running in the neighborhood of $260,000 per year.

Hallmarks of our son's disorder include joint difficulties caused by bleeding, psychological challenges caused by trauma, and financial struggles related to the cost of treatment and job disruption.  Care must be comprehensive because the effects of this disorder are so global in nature, touching every part of a person's life.  This means physical therapists, genetics counselors, psychotherapists, and financial advisers are all members of the medical team.  What this also means is that you cannot just go down the street to another doctor if you don't like your current doctor.  The specialists and the team are also as rare as the disease.

While we have learned to thrive in spite of this disorder and all of its madness, just writing down all of the nuances here makes my head feel like it's about to explode.  It's a mentally and emotionally taxing journey.  We wouldn't trade our son for the world, but we majorly need support!

These are only a few of the many reasons why I want to lose it when people wonder WHY they should care about World Rare Disease Day, coming up on February 28th.  The "Who cares?" attitude is incredibly short-sighted when people take time to look at the bigger picture.

Are you SERIOUS?!

In past years the motto, "Alone We Are Rare, Together We Are Strong," has been used in uniting the community for Rare Disease Day.  That's a good way of describing this global health concern, because while it may seem like it could never affect your family, collectively, it affects all of us.

For example, our family's rare disease stories also include those of our youngest daughter, who faces a different concern even more rare than our son's.  When she was a toddler, she experienced repeated allergic reactions to a variety of different antibiotics used to treat ear infections.  One of these reactions was so rare and lethal, I still can't look at photos of it without being brought to tears.  The name of this reaction is erythema multiforme, and it is so rare that the attending physician in the Children's Emergency Room had medical students parading into our exam room to witness something in my child that they may never have the opportunity to see again.  

Thankfully, she has been in the care of an incredible, wise asthma/allergy specialist, who takes this diagnosis seriously.  At the same time, it still vastly complicates her treatment for any sort of infection, particularly strep.  Every time she is ill to a point of needing an antibiotic, her pediatrician and allergist must consult in her care.  She must be closely monitored.  We have even had to cut a vacation short because we were too far from the safety of her Children's Hospital when she was diagnosed with a bacterial infection.  And she can never be challenged again with any sort of penicillin or, we have been told, there will be no saving her.

These are only our family's two rare stories.  And although a "rare" disorder in the United States is any diagnosis affecting 200,000 people or fewer, it is estimated that there are 7,000 rare diseases affecting nearly 30 million Americans, two-thirds of whom are children.  This means while a diagnosis may be rare, the impact is widespread.  This also means that we ALL know one or more individuals affected by life with rare disease!
Wondering if your diagnosis is considered "rare"?
Check out NORD's Rare Disease Database
As a rare disease family I can tell you that for us this means a continual underlying level of heavy, chronic stress.  Constant concerns about adequate treatment are intense and real. Coordination of multiple moving parts of our lives are a perpetual puzzle to be solved. Financial concerns -- the kind that most people think of as their worst nightmare -- never improve.

This cluster of issues make it even more crushing when people look at you in confusion, wondering why you just don't cheer up and relax.  Only those walking this sort of path seem to truly grasp how difficult this can be.

That is why we share our story.  You need to know.  You need to care!  Help is needed -- financial, emotional, spiritual, and practical.  Compassion is the answer, not turning your head the other way.  

Don't leave those who are "rare" to fight these battles alone.  THESE are the families Jesus was speaking of when he talked about serving "the least of these."  Be His hands and feet to them.  Spread the call to action by educating others around you!  Because if the Church doesn't step up, we look like the rest of the world, a hollow noise, all talk without action.

[Have a story to tell about your family's encounter with a rare diagnosis?  Share it at]

To learn even more about how you can make a powerful impact on February 28th, visit the RARE DISEASE DAY WEBSITE.

And please join Snappin' Ministries' online observance of Rare Disease Day via our Facebook Page.

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