Tag Archives: philanthrophy

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:

KY-gives-day-logo

 

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Hope for Katherine Belle Contributions

We sincerely thank each of you for your generous donations. Each contribution was so helpful in helping us get an accurate diagnosis for Katherine. Future donations will help to further research for NUBPL.

$5 – $20
Anonymous
Lisa Auge
Donald Kirby
John Shouse
Daniel Egbers
Tania Zivkovic
Anonymous
Lisa Gabbard
Anonymous
Anonymous
Jackie Slone
Jodi Miller
Lindsey Davison
Miriam
Anonymous
Anonymous
Deborah Drury
Janet Lensing
Marla Blair
David Helmers
Pete Palmer
David Longenecker

$25 – $50
Anonymous
Anonymous
Anonymous
Anonymous
David Smith
Michelle Eviston
Robert Johnson
Just Aces2x
Ann Leslie Jones
Ingrid & Joe Jordan
Sara Kinslow
Anonymous
Anonymous
Anonymous
Kelly Bradley
Tonya Nuckolls Smith
Danielle G.
Jeffrey Burdette
Dena Wilson
Katie Irwin
Patrick Conley
Caroline Winston
Marisa Aull
Susan Nalley
Amanda Crawford
Jenny A.
Anonymous
Anonymous
Claudine Aldon
Anonymous
Sandy Auge
Joan Gregory
Piper Plummer Mehigan
Kathryn Belle Allen
Polly Helm
Rae Ann and Aragon Caldwell
Cheryl Gayhart
Anonymous
Anastasia Turner
Jared Hughes
Anonymous
Dave Daniel
Mindy Timberlake Sunderland
Anonymous
Lisa Simonds
Tammy Downard
Natalie Ballash
Anonymous
Ken and Jane Kerns
Melissa Davis
Laura Reynolds
Amelia & Garret Lewis
Terry Lennie
Anonymous
Beth Kleykamp
Anonymous
Myra Hughes
Anonymous
Morgan & Bradley Turner
Brandi Sharkey
Mary Beth Richard
Ron Gray
Bertrand Might
Matt Hudson
Anna Dominick
Laura Timberlake

$60 – $100
Anonymous
Matthew Ryan
Brian Humphrey
Anonymous
Courtney McGair
Allie Townsend
Lori Daniel
Julia Burnett Armstrong
Isabel Ladd
Anonymous
Anonymous
Ruth Castle
Laura Hagan
John Stapleton
Doug Richards
Stacey & Charles Magee
Julie Bell
Joanne Hall
Christina O’Brien
Chris Chase
Laura Zucker
David Wheeler
Pam Stith
Ann Aldridge
Anonymous
Stuart Family
Scott Weigel
Sara Charles
Anonymous
Anonymous
Anonymous
Julie & Jim Smith
Anonymous
Susan Sears/Bill Rambicure
Owen McMasters
Terri Sue
Elizabeth Taylor
David Oakes
Anonymous
Ashley Soriano
Dan Cauley
Sheila Hiestand
Vanessa Cantley
Hal Helmers
Jenny Scott
Mary Page Platerink
Stephanie Morrison
Sheila Bottoms Gerkin
Paula Holbrook
Laura Vincent

$150 – $250
Mark Hillard
Anonymous
Patrick Gault
LaDonna Koebel
Mark King
Anonymous
Ninfa Floyd
Chris Woods
Anonymous
Marian Hayden
Shannon Ragland
Nyoka Hawkins & Gurney Norman

$500 – $1000
Anonymous
Hannah & Mike Duffy
Alvah McCoy
Anonymous
Cole Preston
Kathy Lancaster
Jill & Craig Schroeder
Anonymous

$3,000
Michelle Lerach

Also, a very special thanks to Pem and Kevin Ausbrook, Patricia Madden, Jerry and Mary Ann Faughn, Kathy Cowden, Alvah McCoy, Stephanie Preston and Mike Meuser, Print My Threads (Ashland, KY), and everyone who purchased a #Hope4KB T-shirt.

To make a donation for NUBPL research, please click here.