Tag Archives: awareness

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 Letter to Myself – One Year Ago Today

Dear Glenda,

On this day one year ago, on a warm August morning, you took this picture of the sunrise en route to Katherine’s first MRI at Cincinnati Children’s Hospital. It looked so pretty and calming, didn’t? And you were searching for a sign of what was to come after a year of silently suffering over your worries for your daughter.

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I know you optimistically hoped nothing unusual would appear on her MRI – convinced yourself nothing was wrong; however, in a few hours – the longest hours of your life – your husband will take a phone call from a neurologist who will tell you something far worse than you have  imagined. In fact, you have not heard of the disease he believes Katherine has …he says it’s progressive and fatal…and when asked if there’s any hope, he says you need to “spend as much time with her as possible.” (You will say it’s a Mitochondrial disease, but you will later find out that all Mitochondrial diseases are metabolic, but not all metabolic diseases are Mitochondrial.  However, this is utterly confusing to you this day.)

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You are about to be knocked off your feet. The world will suddenly come to a screeching halt. You are not going to know your name or be able to feel your body. You are going to be physically and mentally numb. And you are going to feel this way for many months.

Somehow you will find the strength to stand back up. When you walk outside for the first time, you will notice the world is still turning, that people are carrying on like normal, that the sun still rises and sets. However, life will feel different. The mundane will become even more mundane. Everything will look different; even colors will no longer have the same shade as they once did. Life as you know will change forever.

Slowly, you will pick up your camera and focus on the frame in front of you. Life will get blurry, so you need to adjust your focus. Katherine will guide you through those early days. Your daily goals will be simple: eat, breathe, sleep, repeat.

You will experience many changes over the next year. You will have to quit your job, put your home on the market, and travel to many appointments and tests with Katherine. She will be given anesthesia three more times before her third birthday. You and Dave will decide that you will not try to have another child.

You will become fluent in medical lingo and very familiar with that disease whose name you cannot pronounce or remember. You will spend long, stressful hours at the Cleveland Clinic and learn to recognize the sadness on the faces of other families facing the unimaginable. You will carry KB from lab to lab to have her blood drawn and always inform each tech that it’s Katherine’s blood they’re drawing, not yours.

You will receive a rejection letter from your insurance company denying a genetic test.  You will learn that it’s easy for insurance companies to deny your claim because they think she’s going to die and don’t want to (and usually don’t have to) pay to confirm it.  Your husband will tell them the many reasons why this practice is wrong and they will decide to pay after all.

You will learn how to fight for your child.

You will learn the importance of enjoying every moment of your life, living in the present, and never taking another day for granted. You will grieve the life you imagined for yourself and your child. You will experience all stages of grief at varying times. You will suffer more than you knew was possible. And, you will wish it were you and not Katherine who has to face this horrible disease.

You are going to become a rare disease advocate – you will raise awareness, contact state and national elected officials, tell your story to anyone who will listen. You will meet other families walking a similar path and learn the names of their children; you will cry with their parents when they struggle and cheer when they achieve their own “inch-stones.”

You are going to study genetics and research everything you can about rare diseases, and you will share Katherine Belle with the world to put a face and a life to rare disease. Because of this, you are going to meet some really amazing people. You are going to receive kindness that you didn’t think was possible, not just from friends and family, but from complete strangers.

I know you feel hopeless, lost, overwhelmed, confused, scared and incredibly sad right now, but slowly you will find your voice and purpose. You will have hope – the type of hope that nobody will ever be able to take away or destroy. You will have faith that this journey is bigger than you – MUCH bigger – and even though you do not have the strength right now, you will find it, I promise. Your strength will wane, your faith will be tested, and your hope will diminish from time to time. I know you want to scream “WHY?” but in time you will learn this question is just another part of the journey.

And love. You will be enveloped by so much love. The world will pray for your family and your strength; they will pray for Katherine Belle; they will carry hope on their shoulders when you can’t feel it anymore or find yourself just too tired to go on. But, you will go on. As sure as that sun is rising in this picture, you will go on. You must go on. Katherine needs you.

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There is a message in this photograph after all – it just took a year to fully understand.

Love and courage,

Glenda (August 2014)

If you wish to donate to support Katherine Belle’s medical fees, please go to http://www.gofundme.com/hopeforkatherinebelle

 

How Social Media Impacts Scientific Research

This article in the New Yorker is by far the most important article we’ve read to date that defines our purpose and hope for Katherine Belle.  Thanks to the Mights and Wilseys for confirming what we hope to achieve and proving there are other options than just waiting and hoping science “catches up.”  When parents are given no other option but to create websites and post articles with their genetic data to accelerate research and treatments for our dying children, there is a serious problem with the system.   We are an important part of the diagnostic team and can play a critical role in helping decipher the human genome.  My question is why aren’t more journalists talking about this problem?

Matt Might gave a talk titled “Accelerating Rare Disease.” After describing the effects of his blog post, he told the crowd that it was inevitable that parents of children with other newly discovered diseases would form proactive communities, much as he, Cristina, and the Wilseys had done. Vandana Shashi believes that such communities represent a new paradigm for conducting medical research. “It’s kind of a shift in the scientific world that we have to recognize—that, in this day of social media, dedicated, educated, and well-informed families have the ability to make a huge impact,” she told me. “Gone are the days when we could just say, ‘We’re a cloistered community of researchers, and we alone know how to do this.’

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