Tag Archives: research

Kentucky Gives Day 2017: Support NUBPL Foundation

“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.”
Margaret Mead

In 2015, our (now) 5-year old daughter, Katherine Belle, was diagnosed with an extremely rare Mitochondrial Complex 1 disease caused by mutations in the NUBPL gene.

The harsh reality is we have a vibrant and amazing five-year old daughter who fights daily with everything she has, but because NUBPL is a recently discovered disease without any available treatments, we do not know what the future holds in terms of her health and disease progression.

As tireless advocates for our daughter, we decided to do more. We founded the NUBPL Foundation to fund research for NUBPL, which causes progressive atrophy in our daughter’s cerebellum, as well as speech and developmental delays.

Katherine is just one of 11 patients in the WORLD identified in scientific research, although we believe the number of confirmed NUBPL patients is likely closer to between 25 to 50. All patients have been diagnosed through Whole Exome Sequencing (WES), and we have no doubt that the NUBPL patient population will continue to increase as more families use WES to diagnosis their children. We have been very public about our story so that we can help clinicians and families better diagnose NUBPL in the future.

Because orphan diseases are rare, they lack support groups and national organizations. And, 95% of rare diseases do not have any FDA approved treatments, including NUBPL. Orphan diseases don’t attract as many research dollars because few people are affected, and for pharmaceutical companies, there’s less incentive to fund the research for a treatment that will not produce a good return on their investment.

Our daughter and other affected children deserve better.

NUBPL Foundation

We have carefully listened to proposals from top researchers from around the country and have decided to fund the promising research of Dr. Marni Falk at the University of Pennsylvania. The Mitochondrial-Genetic Disease Clinic at Children’s Hospital of Philadelphia (CHOP) is one of the top research centers in the nation for Mitochondrial related diseases. This research gives us hope that therapies will soon be developed to help treat the mitochondrial dysfunction of Katherine and other NUBPL patients.

100% of your tax-deductible donation will directly fund the research of Dr. Marni Falk and her team at CHOP to research the NUBPL gene and to develop life-enhancing treatments for the mitochondrial dysfunction of Katherine and other NUBPL patients. 

Our matching gift pool from our Double The Hope partners will match every donation – DOLLAR FOR DOLLAR – we receive from you on April 18, 2017, to ensure we reach our $25,000 goal.

Click on the picture to donate to the NUBPL Foundation:

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2016 Rare Disease Day $1 Challenge

We all live a life that can never be fully conveyed through social media – a world we see daily that cannot be shared or adequately described through five second sound bites or a quick snapshot. These moments are felt and lived, not shown and told.

I give you countless examples and observations, but I know I always fall short in my depiction. At the end of the day, all I have is a promise to myself and my daughter. It’s easy to tell myself I’m doing enough, and I am in the normal world, but nothing about our journey is “normal.”

We must push forward and harness the scientific possibilities for treatment beyond clinical trial drugs and therapy. We are growing Katherine’s stem cells and raising money to fund NUBPL research. Advances are being made daily and we need to fuel it. This is what I mean by not giving up.

I fight a daily battle on the home front, which is mighty enough, but there’s a larger war beyond our doorstep that, if won, can ease the struggles of all of our personal fights.

This is what ‪#‎Hope4KB‬ means to me.

February 29th is Rare Disease Day 2016 – just 55 days away. Each year we try to do something special to raise awareness. Last year we sold #Hope4KB t-shirts and asked that you wear them on Rare Disease Day. We raised $2700 for rare disease.

Our $1 challenge for 2016 is simple:

  1. SHARE this post; and
  2. Challenge yourself to donate just $1 (or more) to one of the following: Hope for Katherine Belle or The Spooner Girl Foundation. Our daughter’s disease is called NUBPL and has been linked to Parkinson’s Disease. (Click here for the full bio of lead researcher, Dr. Virginia Kimonos.) All donations will directly go to NUBPL research, treatment, and hopefully, a CURE! It is amazing how much can add up if everyone gives just a little.

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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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