Tag Archives: Year in Review

2016: A Year in Review

Hands down, 2016 has been our best year since our family was thrust into the world of rare disease.

Unlike previous years, we entered 2016 with an accurate diagnosis, enrollment in a clinical trial, therapies tailored for Katherine’s specific needs, and a new home with a layout better suited for Katherine’s physical challenges.

After enduring several years of emotional setbacks, uncertainty, and seemingly endless financial strain, 2016 brought much needed stability and a renewed sense of hope and vision for the future.

Katherine’s Year

  • She finished her first year of school (pre-K) at Model Laboratory School in Richmond and is currently in Kindergarten, where she has made many friends and loves her teachers and therapists. She says she wants to be a teacher, a doctor, a mommy, and an ice cream maker. Her favorite activities are P.E. and Library. She has an IEP, is fully integrated, and, with assistance, does EVERYTHING the same as her peers. They are her biggest cheerleaders. Katherine turned five in July. She is able to write her name with little or no assistance.
  • Therapies: Aqua, Hippo (Equine), Geo (walking machine), Occupational & Physical, Speech, and Vision. Additionally, Katherine completed swim lessons this summer and is currently enrolled in an adaptive dance class. She has at least one form of therapy every single day.
  • She completed the EPI-743 clinical trial for Metabolism or Mitochondrial Disorders. As a part of the trial, Katherine was monitored very closely – monthly blood work at home and/or at the National Institutes of Health (NIH) –  to look for changes in her body while she was on EPI-743/placebo.
    What is EPI-743?
    EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1). In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.
  • Katherine participated in a second NIH study about immunizations for patients with metabolic disorders.
  • She also is on a compounded medication commonly called a “mitochondrial cocktail” that supplements one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

Legislative Advocacy
Dave and I grew increasingly frustrated that while Kentucky law mandated coverage for the “Mitochondrial cocktail,” private insurers continued to deny coverage month after month.

In April 2016, we decided it was time to advocate on behalf of all Kentucky Mitochondrial disease patients by working with Representative Rita Smart and Senator Ralph Alvarado to include a floor amendment in Senate Bill 18 to specify that Mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease.

Kentucky is the first state in the nation to mandate that private insurance companies cover the vitamins and supplements prescribed by a physician for a “Mito Cocktail.” The new law goes into effect on January 1, 2017.

Awareness

In March 2016, I became a contributing writer for The Mighty to increase my rare disease awareness reach. Below are links to my published articles:

Mitochondrial Disease Explained for Non-Scientists

How To Become A Legislative Advocate For Your Child

10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis

Three Things I Want To Tell The Mom Receiving a Rare Diagnosis

Learning To Live In The Present With My Daughter With a Rare Disease

Non-Profit Status/Fundraising

In November 2016, we founded the NUBPL Foundation with the mission to fund NUBPL research, awareness, and support.

We are honored to be selected as 1 of 50 non-profits to receive a very rare bottle of O.F.C. Vintages (1982) bourbon from Buffalo Trace for our very first fundraiser (February 2017). We are finalizing all the details and will post event information at the beginning of 2017. We are thrilled to marry our passions to raise awareness and funding for NUBPL through our Rare Bourbon for Rare Disease fundraising events. All donations are tax-deductible and 100% of proceeds go directly to research and support.

We are on a mission to assemble a team of the world’s best researchers dedicated to finding a treatment/cure for NUBPL.

Just last week we had the honor of being invited to the White House by Matt and Cristina Might to celebrate their son Bertrand’s 9th birthday and meet their NGLY1 team for a discussion of Precision Medicine and NGLY1. We are so grateful for their love and guidance on this journey. (I am working on an in-depth article about their family, organization, and guidance…stay tuned.)

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We are grateful for each of you and look forward to our work in 2017. Thank you for being a part of our journey.
Love,
Glenda, Dave & Katherine Belle

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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!