A special thank you to The Pennsylvania Gazette for the feature cover story about how our family’s journey through the realm of rare disease led us to the newest frontier of precision genetic medicine at the Children’s Hospital of Philadelphia.
We would like to thank Modified Mamas for your support and for nominating us for this fantastic award.
Here’s how the process works: Bloggers are nominated by their peers. Once they are nominated, they look for blogs that speak to them and have less than 200 readers per month, and then they nominate those bloggers – paying it forward.
Upon nomination, The Liebster Award Nominees are asked to answer 10 questions.
Here are the 10 questions Brandy and Nicole at Modified Mamas asked us:
Q: What made you decide to start a blog?
A: When we received the soul-crushing news that our then two-year old daughter, Katherine Belle, had a progressive, neurodegenerative disease in 2013, we were utterly devastated. We needed an outlet to express what we were feeling, but also on a practical level, we needed a way to give community updates to friends and family at once so we didn’t have to keep repeating very complicated, painful information.
Q: What is the number one way you market your blog?
A: Over time, our blog has become more than just a place for community updates, although that is still very much an important component. As we’ve moved through our rare disease journey, this blog provides a way to get our story out into the world to help us find other patients like our daughter, which is especially important now that we founded a non-profit to research her mitochondrial disease and grow the patient population. The number one way we market our blog is through a companion Facebook page, Hope for Katherine Belle.
Q: Where do you see your blog in 5 years?
A: We see this blog as an ever-evolving public journal of our rare disease journey. When we started blogging, we sat down together and discussed what this blog meant to us. Given the grim odds our daughter faces, coupled with our immense grief over learning that she’s slowly dying from a rare mitochondrial disease, we understood that our family had a long, rough road ahead. In the beginning, we were told there was no hope for Katherine. Together, we decided to reject this opinion – both medically and spiritually – because we believe there’s always hope. Excerpts from our first blog posts established the tone of our blog (and journey):
But this is not a blog about hopelessness. Far from it. It is a blog about hope. It is about faith. Above all, it is about love. While we have faced many hard days in the wake of this news — and will face more in the days to come — we have also felt and seen the redeeming power of hope, have been buoyed by the love given us by family, friends and complete strangers and have been astounded by the ability of faith to change things for the better, whether it is faith in a benevolent God, faith in each other or faith in a miraculous child.
Each day I share my photographs with friends and family and tell them a story that does not always require words, and that sometimes cannot be expressed with them. It is a story of faith, hope, love, and determination. As we continue ahead on our journey toward a diagnosis, I see a brave and thriving girl who is progressing, not regressing. I see a happy and joyful child who meets every obstacle or challenge with the biggest smile and the most positive attitude. I see a future with many more photographs of accomplishments, milestones, and laughter. In all of my pictures, I see faith, hope and love. Above all, I see an abundance of love.
Three years later and we still feel the same way. Where do we see this blog in five years? Ideally, in five years (even sooner) we hope we’re sharing groundbreaking research about cures/treatments for mitochondrial disease, along with photos of a happy and thriving 11-year-old Katherine Belle. We hope that people will understand that when we received devastating news in 2013 that we didn’t just sit down and hope for the best; instead, we stood up and looked mitochondrial disease squarely in the eyes and fought with everything we had – we pushed for a diagnosis, treatments, and cures, and advocated for our child every single day. Our greatest hope is that five years from now our hopes and hard work to fund treatments and cures will be a reality, not just for our own child, but for all those affected by mitochondrial disease.
Q: What do you do in your downtime/do you have a hobby other than blogging?
A: In our downtime we run a non-profit, the NUBPL Foundation, to raise awareness and fund research to cure mitochondrial disease. We try our best to carve out time for self-care (so very important!), which usually involves reading, biking, gardening, and home projects.
Q: What one piece of advice would you give other new bloggers?
A: Keep writing and searching for your authentic voice and purpose.
Q: What is your favorite book?
A: Angle of Repose (Glenda); I, Claudius (Dave)
Q: Do you have a phrase (or code) you live by?
A: “It is not the critic who counts; not the man who points out how the strong man stumbles, or where the doer of deeds could have done them better. The credit belongs to the man who is actually in the arena, whose face is marred by dust and sweat and blood; who strives valiantly; who errs, who comes short again and again, because there is no effort without error and shortcoming; but who does actually strive to do the deeds; who knows great enthusiasms, the great devotions; who spends himself in a worthy cause; who at the best knows in the end the triumph of high achievement, and who at the worst, if he fails, at least fails while daring greatly, so that his place shall never be with those cold and timid souls who neither know victory nor defeat.” (Glenda)
“Don’t let the perfect be the enemy of the good.” (Dave)
Q: What is your favorite drink?
A: Coffee (Glenda), Diet Coke (Dave)
Q: What gets you out of bed in the morning?
A: During the week our iPhone alarm clock. On the weekends, a chipper six-year old saying “Rise and shine!”
Q: What is the last thing you do at night before you close your eyes?
A: Kiss one another and say goodnight.
Now it’s our turn to nominate some fellow bloggers.
Upon accepting this nomination, it becomes your turn to write your Liebster Award 2017 acceptance and nominate some fellow deserving blogs. In your post you’ll need to follow these Liebster Award rules:
We are inspired by each of you and look forward to your responses!
Glenda & Dave
For the past few years we have given an annual update in December, but so much has happened in the last few months that we want to share with you today.
Many of you have been on this journey with us since the very beginning when we started this blog in January 2014 after learning that Katherine had a rare disease that affected her cerebellum. In those early days, this blog was an outlet for our immense grief after being told by two doctors that our daughter had a quickly fatal disease.
It is soul-crushing.
Slowly, we made our way to research, awareness, advocacy, and thankfully, in February 2015, an accurate diagnosis of Mitochondrial Complex 1 Deficiency (NUBPL gene).
The only word we’ve found that best describes the last four years is journey. On this journey, we have learned that adaptability to change is key to moving forward. I am proud of what we’ve learned and accomplished amidst very difficult circumstances. I am also thankful for each of you who’ve followed along and continue to cheer for our daughter while lifting us up on our darkest days. You are an integral part of our story.
From the beginning, we knew that we needed to be Katherine’s voice in order to give her hope for the future. Isn’t that what we all want for our children? Sometimes that means something more or different depending on the circumstances. In our case, the task at hand – our greatest hope of all – is to give our child a treatment and cure for a disease that threatens to take her life sooner than any parent should have to imagine.
If someone is threatening to kill your child, most parents wouldn’t ignore the threat. I believe that most would try to prevent it – to go above and beyond to protect the life and well-being of their child. Mitochondrial Disease is threatening our daughter’s life and we have to stop it. We are on a mission to find a treatment and cure.
2017 Bi-Annual Report
1. Founded the NUBPL Foundation, Inc. to raise awareness and funding for Mitochondrial Complex 1 Deficiency (NUBPL gene).
2) In February we had our first fundraiser, Rare Bourbon for Rare Disease. The event grossed $32,000. There is a nice write-up about the event here: The Spirit of Giving, Paducah Life Magazine
3) Traveled to California to meet another NUBPL family (The Spooner Family) at UC-Irvine – first time two NUBPL families have ever met. We met with Dr. Virginia Kimonos and other mitochondrial disease researchers at UC-Irvine and toured their lab.
4) I continue to write advocacy articles for The Mighty Publication and we hope to participate in a legislative advocacy webinar in the coming months to help others advocate for Mitochondrial Disease legislation. My latest article for The Mighty is here.
5) We are growing our NUBPL community and are now in contact with another family in Canada and will meet another one in two weeks – the first non-sibling match to our daughter in the world. The more families we can connect with, the more we can learn from one another and fundraise for treatments together.
6) In April we participated in 2017 Kentucky Gives Day and received the second highest donations in the state, netting $10,565 (and receiving $1,000 for second place).
7) Katherine entered the extension phase of the EPI-743 trial and continues on the drug today. We made several trips to the NIH and presented our journey to attending NIH physicians.
8) In June we with researchers at the Mitochondrial-Genetic Disease Clinic at the Children’s Hospital of Philadelphia (CHOP) and toured their laboratory.
At this point on our journey, we are tackling the daunting challenge of major fundraising. Ideally, we would like to fund all NUBPL research, but at this point we feel the best approach is to research the natural history of NUBPL and to do so as quickly as possible so that a therapy can be determined to help Katherine.
In addition to our NUBPL Foundation GiveGab fundraising platform, we have established the Hope for Katherine Belle Mitochondrial Disease Research Fund at the Children’s Hospital of Philadelphia (CHOP) to immediately begin researching the natural history of the disease through various animal models.
Every donation matters and is greatly appreciated. Every donation is tax-deductible. Every donation advances critical mitochondrial disease research that will help not just Katherine but countless others. The approach being used will test many strategies that are hoped to be used for other mitochondrial diseases. The natural history studies are necessary to set a baseline against which they can measure the efficacy of the therapies, which show promise across mitochondrial diseases.
We whole-heartedly believe in this research and will keep moving forward to give Katherine and others affected by this disease the best chance at life. We hope you will continue to walk with us as we venture into this critical aspect of our journey. We’ve come so far in four short years; I truly believe that, together, we can fund a treatment.
Please consider making a tax-deductible donation today to the Hope for Katherine Belle Mitochondrial Disease Research Fund.
“Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.”
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.
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:
Last year we founded the NUBPL Foundation to elevate NUBPL awareness and research. In February 2015, our daughter was diagnosed with a recently discovered form of Mitochondrial disease named after the affected nuclear gene, nucleotide-binding protein-like (NUBPL). As one of 11 identified patients in the world, research is needed to understand more about this disease.
This is an exciting time for our family as we expand our rare disease journey to grow NUBPL’s patient population and fund research and, hopefully, develop a treatment or cures.
We had our first fundraiser at the Haymarket Whiskey Bar in Louisville, Kentucky, on February 25, 2017. Our foundation was selected as one of 200 charities to receive a bottle of Buffalo Trace O.F.C. Vintage Collection, an estimated value of $10,000 per bottle.
Coordinated by Dave’s cousin, Brian Shemwell, founder and president of the Paducah Bourbon Society, Haymarket Whiskey Bar, Masonic Homes of Kentucky (event food sponsor), and five regional bourbon societies – Louisville, Paducah, Owensboro and Lexington Bourbon Societies and JB’s Whiskey House of Nashville – came together under one umbrella to support our cause, raising a total of $32,000 in ONE night for the NUBPL Foundation from rare bourbon tastings and silent auction items.
Dave and I were blown away by the level of support we received from event sponsors and attendees. As Dave concluded his speech about our rare disease journey and the NUBPL Foundation, he concluded with these words:
“Whiskey is a Celtic word meaning ‘water of life’ and it’s never been more fitting than this moment. Tonight we raise our glasses of whiskey to save a life. To life.”
NUBPL is a form of Mitochondrial Complex 1 Disorder. Discovered just a few years ago that mutations of this gene are disease causing (our five year old daughter has two mutated copies of her NUBPL gene – one mutated copy from mom, one mutated copy from dad), our family wants to know more so our daughter can have treatments and/or a cure.
The bottom line is that we need to fund the research. Researchers need money to study diseases. We founded our very own non-profit, NUBPL Foundation, to do just that. NUBPL Foundation is an all-volunteer (we do all of the work ourselves and for FREE!) non-profit with the mission to elevate NUBPL research and awareness. Simply put, we are raising money to fund research and find other patients with this disease.
We are starting at ground zero with this research. The good news is there are scientists and physicians who want to perform this research, but they need money. For starters, we need to raise $50,000 to purchase a mouse. There has already been NUBPL research performed on plants, but now we need to see what happens when a mouse has NUBPL. There is much to learn from a NUBPL mouse. What is learned from the mouse will determine what comes next.
Rare Bourbon for Rare Disease is our first NUBPL Foundation fundraiser on Saturday, February 25, 2017, at Haymarket Whiskey Bar in Louisville, Kentucky.
This is your opportunity to taste bourbon from a bygone era – a 1982 O.F.C. vintage-dated bourbon – and fund rare disease research at the same time. Only 50 bottles of this very rare bourbon were ever bottled, placing each bottle’s worth at $10,000. Buffalo Trace released all 50 in 2016 to charities for fundraising. One recipient was The NUBPL Foundation. (For more information, click here.)
The NUBPL Foundation, Inc., is a 501c (3) corporation, funding research for a very rare Mitochondrial disease caused by mutations in the NUBPL gene. This disease causes progressive atrophy of the cerebellum in affected children, among other dire complications, and mutations of the NUBPL gene have also been linked to Parkinson’s disease. The hope is that further research will lead to life-enhancing, life-saving treatments for both NUBPL and Parkinson’s patients.
Be a part of bourbon history while supporting an important cause. Join the NUBPL Foundation and 5 Bourbon Societies – Paducah Bourbon Society, Owensboro Bourbon Society, Lexington Bourbon Society, The Bourbon Society, and JB’s Whiskey House of Nashville – at the legendary Haymarket in Louisville. All ticket holders will enjoy light appetizers provided by our event food sponsor Masonic Homes of Kentucky, Inc.
There will be three tiers of entry:
Tier 1 – $250 Donation: (Quantity available: 50)
-1 Flight of 4 Rare Bourbons, including OFC Vintage 1982, 20 Year Pappy Van Winkle distilled by Stitzel Weller, a 20 year Willett Family Reserve (barrel C43A), and a 1971 Old Grand Dad.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection
Tier 2 – $100 Donation: (Quantity available: 50)
-1 Flight of 3 Rare Bourbons, including AH Hirsch 16 year, a 21 Year Old Willett Family Estate (barrel 3936, Liquor Barn Holiday Selection), and a 1970s Ancient Ancient Age.
-1 Bottle of a Special Knob Creek Single Barrel Private Selection
Tier 3 – $50 Entry Donation: (Quantity available: 100)
-1 Bottle of a Special Knob Creek Single Barrel Private Selection
Fred Noe, Master Distiller and 7th generation Jim Beam family member, will attend the event from 7-8:30 to sign bottles of the Knob Creek.
This event will also include a Silent Auction, featuring E.H. Taylor Sour Mash, E.H. Taylor Tornado, 2012 Angels Envy Cask Strength, and multiple years of Pappy Van Winkle.
Other items, available via an on-site raffle or live auction, will include gift baskets from Jim Beam, Sazerac, and Four Roses, special bottles of Private Selections from participating bourbon groups, and other donations from bourbon groups.
Tickets are limited.
To purchase your tickets, click here.
You may also mail donations:
230 Lancaster Avenue
Richmond, KY 40475
When Katherine was first (mis)diagnosed with a rare disease in 2013, not only was I utterly devastated by the news that she had a progressive disease, but I was also shocked beyond reason by the realization that such a disease even existed in the first place.
That moment was life and reality altering. In fact, I remember very little from that day, except asking my husband over and over to repeat the name of the disease the doctor suspected. He would say it and I would forget it a second later. How did a disease so horrible exist in this world that nobody ever talked about? Why was the name so foreign that I couldn’t even remember it for more than a second? Shouldn’t everybody be alerted about this vicious disease? Why? How? Is this really happening?
Of course, I was in shock, and would later become very much acquainted with the disease threatening to kill my daughter. And a few years later, after Whole Exome Sequencing, I would become familiar with another rare disease, a newly discovered one, so new in fact that it is simply referred to by its gene name, NUBPL.
The first time, though, in the most startling way, I awoke in a different world – a world where I began to question what else I didn’t know or may have overlooked in my 36 years of life? Outside I heard the familiar sounds of cars and birds, but for me, in the early morning light, I found myself living in a world much altered and unfamiliar. Even the colors I’d viewed my entire life were muted and different to my eye.
I’m fairly certain that a part of me died with the news and shock of my child’s rare disease diagnosis; however, something else happened in that moment: An advocate was born.
Professionally, as a political appointee, I met many advocates and even organized advocacy training sessions. Selected advocates shared stories of best practices to replicate. The stories were inspiring and aspirational, and in many ways, there are teachable aspects of advocacy work. Regardless of the story or cause, one defining characteristic was common throughout: They never gave up.
Each year I would see the same faces in the halls of our state Capitol building – glimpses of weary faces at the end of a long legislative session. You could see the defeat in their eyes and the figurative scars of battle – hanging heads, slower steps, sometimes tears. But the next year, they would come back for another round, always hopeful this would be the year they succeeded.
Sometimes they did; mostly they did not. I admired them and their dedication, although admittedly, I did not understand how they did it. Not until the day the advocate inside me was born. It was unplanned and shocking, but there was no stopping it even if I tried.
For starters, explaining to family and friends that my baby was dying of something they’d never heard of was my first role as a rare disease parent advocate. I found my voice as a writer to communicate my feelings and explain her disease; when words fail me, I depend on my camera to tell a story that doesn’t always require words or sometimes can’t be expressed with them.
Much has changed for me since the day I “discovered” the world of rare disease. At this point on my journey, I have the benefit of hindsight and perspective, both of which are very useful tools in life.
In the very beginning, after the shock wore off and I came to terms with my world turning upside down, I felt that I had an important role to play in educating people about rare diseases. Why? If I didn’t know they existed, then I figured others out there didn’t know about them either. And, beyond the basic starting point of awareness, from there the path leads to understanding, and from there, hopefully, to discovery.
Statistically, one in every ten people will suffer from a “rare” disease at some point during his or her life. As I sit and write this to you today, you or a family member may have a rare disease you’ve never heard of or has yet to be discovered.
The National Institute of Health defines a “rare disease” as one that affects fewer than 200,000 people in the United States. This definition of a rare disease was included by Congress in the Orphan Drug Act of 1983. There are approximately 7,000 diseases or disorders that qualify for this designation. Because of the Congressional Orphan Drug Act of 1983, the term “orphan disease” is often used interchangeably with “rare disease.”
Anyone who suffers from an Orphan Disease or, in my case, has a child who suffers from one, can understand the harsh poetry of that term.
Perhaps because I have been very open and vocal about my daughter’s rare disease, I feel as though much has changed in the last three years in terms of awareness. I have met so many amazing parent/patient advocates, born out of necessity, who’ve filled the ears of their friends, family, neighbors, communities, and legislatures with stories about rare diseases.
In the early days as an parent advocate, I was overwhelmed in every sense of the word – emotionally, physically, financially, spiritually – as I grappled with the day-to-day of my daughter’s disease. At times, the grief felt heavier than a human should endure, with a learning curve that seemed beyond my grasp and understanding.
I now recognize my own face amongst those advocates I once couldn’t fully comprehend. I have watched other rare disease advocates find their voices, walk the hallways of their own state (and national) Capitol building, and educate themselves beyond their training. On the flip side, I have met parents who don’t want to talk about it publicly for reasons of their own, which I can respect. Not everybody is an advocate and that’s okay. Advocates advocate for people who can’t or won’t do it for themselves.
For me, Rare Disease Day is every single day of the year. I tell everyone our story. I am not ashamed of my child’s disease. This is the life we have and there is much joy to be found in difficult circumstances. This is our one shot at life – life is not the same for all of us, but an end is inevitable for everyone. I choose to live in the light and enjoy the days as they are given to us.
My hope on this Rare Disease Day, February 28, 2017, is that if you are a person who is afraid to tell your story, or plan an event, or speak with a legislator, that you use this day to try something new. Maybe that means telling just one person your story. Whatever form, use this day to live in the light, share your story through your tears, educate your neighbor or community about something new to them, and above all, know that your voice matters. You never know when or how you can make a positive difference in somebody’s life.