A Year in Review (2014)

Yesterday is history. Tomorrow is a mystery. Today is a gift.  That is why it is called the present. – Alice Morse Earle

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It’s true that your life can change (for better or worse) in the blink of an eye, only to realize you spent your prior days focused on a future that may never exist.

Learning to live in the present is not easy.  Our lives are filled with clocks,  calendars, and deadlines.  It is nearly impossible not to think about the future.  And not just tomorrow or the next day, but that distant future that lures us in with false promises of happiness.  For most, “someday” is that glorious day when all our dreams come true and the troubles of today fade away.

It is such an enticing place that I have no doubt that most people cannot help but smile when they say the word “someday.”  Up until a little over a year ago, I was always dreaming about “someday.”  I remember thinking someday I will have more free time, find a more fulfilling job, have my house exactly the way I imagine…

On Friday, August 30, 2013, at around 7:30 p.m. my glorious someday ceased to exist as I received the devastating news that my daughter is  dying of an incurable metabolic disease.  In an instant, someday became so scary and painful that my mind tried to obliterate the concept entirely.  I hated that day and never wanted to see it.  I wasted so many years fantasizing about a day that I now dread with every fiber of my being.

My best analogy I can think of that most accurately describes in words the challenges of the past year requires an imaginary exercise:

You’re asleep and having your normal dreams when all of a sudden you are thrown into the middle of a big, cold ocean.  It’s really stormy, huge waves keep crashing over you, and you’re all alone.  You’re not the best swimmer, but somehow you don’t drown even though you are very fatigued and scared.  You are in survival mode.  You don’t remember how you got there, nor do you think about how long you’re going to be there.  You are there and you will die if you stop swimming.  Sometimes you tell yourself that you are asleep and it’s all just a nightmare, yet it’s not.  It’s beyond your understanding, but it is really happening.

You pray and ask God why this is happening?  Is this part of His plan?  In time you will understand His plan a little better and learn to trust it more than question it. And by doing so, you will find some peace.

Although nobody can pull you out of the water, many boats pass by and give you support (prayers, a life vest, encouragement, a boat, an ore, a compass, food, a fishing pole, water, etc.).  The boats that help far outweigh the ones that don’t.   Slowly but surely you become more familiar with your surroundings.  You are still vulnerable to the elements and storms, but you are paddling your boat the best you can one day at a time.  Over time you meet others in that vast ocean; people just like you.  You are not alone.

Navigating rare disease is much like learning to survive alone in the middle of a big, stormy ocean.  You really are left on your own to learn how to survive.  The sad reality is there are many barriers in our healthcare system.  Sure, there are benefits, but there is nothing worse than when the system fails your three year old. Sometimes in life you have to be your own life preserver.  And if you do it the right way, you may have to the opportunity to help others along the way.

I have learned a great deal about myself this past year.  It is amazing how little you fear when you are face-to-face with your worst fear.  After reviewing our work for 2014, I feel good about our accomplishments.  This list confirms we are not only surviving, which is a major accomplishment alone, BUT we are fighting.  And, based on the comments and letters I’ve received from so many this year, we are also helping others.   I have no doubt that God is with us on this journey and fully trust that His plan is far better than my once imagined “someday,” for better or worse.

A Year in Review (2014)

Advocacy

  • First article about our family was published in The New York Times, When the Diagnosis Is Rare, Parents May Know More Than Professionals;
  • Hope for KB sign campaign has received hundreds of photographs from around the world and from several notable celebrities, including Courtney Cox, Josh Hopkins, & Colin Hanks;
  • Made a short video about rare disease to share with Congress and on social media;
  • Encouraged individuals to write to Congressional members and ask them to join the Rare Disease Caucus. To date, Rep. Brett Guthrie, Rep. Andy Barr, and Rep. John Yarmuth have joined;
  • The Kentucky House of Representatives issued a Citation for Rare Disease Day (2013) and we took Katherine to the House floor to give a face to rare disease as the Citation was read by Representative Sannie Overly;
  • Hope for Katherine Belle has established a good following through social media networks, including Facebook, Instagram, and Twitter;
  • First blog post published on January 27, 2014.  To date we have published 31 posts detailing our journey.  Total reach is 45,049 views in almost every country around the globe;
  • Invited by the Rare Disease United Foundation to be included in Beyond the Diagnosis Art Exhibit at Brown University’s Alpert Medical School. The exhibit will travel to medical schools and hospitals across the country as a way of raising awareness about the many unmet needs of the rare disease community;
  • I have been invited (and accepted) to serve on the Board of Advisors for NGLY-1 Foundation and RUN (Rare and Undiagnosed Network); and
  • Dave offered legal assistance for several families (pro-bono) in their insurance appeals for genetic coverage.

Medical

  • Exhausted all testing at the Cleveland Clinic and received a 90% diagnosis of Infantile Neuroaxonal Dystrophy (INAD); received a third opinion from an INAD expert in Oregon of unlikely for INAD;
  • Appealed insurance denial for INAD test (won);
  • Researched every article available for INAD and similar diseases and performed genetic research on both sides of our families;
  • Participated in our first clinical study (NC Genes) at UNC – Chapel Hill.  We are awaiting whole exome results from this study (July 2015);
  • Second whole exome test through GeneDx.  Awaiting results (April – at the earliest – 2015); and
  • Raised $15,680 on KB’s GoFundMe page for whole exome, medical expenses, and travel; and
  • Established emergency care at the University of Kentucky following seizure activity in December. KB is now on seizure medication.

I have crossed paths with so many inspirational people and organizations this year – people whom I never would have met in my previous life.  So many friends, family, and strangers have helped in every single step of 2014.  Nothing was accomplished single handedly.  Nothing.  We have been blessed with phenomenal doctors, lawyers, nurses, techs, geneticists, politicians, clergy, therapists, this list goes on and on.  All the helpers of the world have shown up to help us during our crisis.

As for now I can tell you that Katherine is a very happy child who brings us far more joy than we imagined possible.  She is bright, funny, strong willed, fiercely independent, and delicate and dainty but tough as nails.  I miss her when she’s sleeping, laugh with her when she’s awake, and love watching her personality develop.  She’s my best girl always and forever.

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Learning to live in the present is a hard earned gift – one that has changed my life for the better.  My once “someday” has become my every “today,” and each day is an incredible gift. I look forward to sharing our days and a few goals with you in 2015.  Happy New Year!

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3 thoughts on “A Year in Review (2014)”

  1. In the aftermath of losing our child to suicide, I share many of your experiences:
    * “It is amazing how little you fear when you are face-to-face with your worst fear.”
    * “So many friends, family, and strangers have helped in every single step…Nothing was accomplished single handedly. Nothing.”and
    * “Learning to live in the present is a hard earned gift – one that has changed my life for the better.”

    When the only “someday” you long for is the one on which you are reunited with your deceased child, one discovers that these three insights are the gifts God gives us in our suffering.

    “Someday”–truly in the promised Someday–perhaps all will experience these gifts without having to suffer to receive them. All we can do for now is to share them. Thank you–and thank God–for your faithful gift of sharing.

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