Tax-deductible donations at #Hope4KB Research Fund
Tax-deductible donations at #Hope4KB Research Fund
Today, Tuesday, November 28, 2017, is #GivingTuesday, a global day of giving fueled by the power of social media and collaboration. Celebrated on the Tuesday following Thanksgiving (in the U.S.) and the widely recognized shopping events Black Friday and Cyber Monday, #GivingTuesday kicks off the charitable season, when many focus on their holiday and end-of-year giving.
We want to take a moment to give you an update on Katherine Belle.
You can see from the photos that she’s happy and growing. She’s loving first grade and changing so fast (as is typical at this age). Although she did not have a third MRI, her latest round of testing this fall was mostly “normal,” which is what every parent wants to hear. The only thing that was slightly abnormal was a mild curvature of her spine (neuromuscular scoliosis) – something that is common with disorders of the brain. At this time, all organs other than her brain remain unaffected. This is indeed a blessing.
She continues on the clinical trial drug EPI-743 and her “Mito Cocktail,” both of which have been very helpful for her. She is growing stronger and walking more and more. She is mostly walking upright around our house – still holding on to surfaces the majority of the time, but taking more independent steps in between. It’s amazing to watch this process as her brain rewires itself, opens new pathways, and creates muscle memory. At this point, we can see how the repetition is building on itself and beginning to accelerate.
This experience is hard in many ways because nobody wants to watch their child struggle, but at the same time it’s mind-blowing to watch the process of how the human brain has the ability to reorganize itself when pushed by a resilient human spirit. It’s incredible. Again, this is a blessing.
We don’t want her to fight this alone. We know enough about this disease to know that even the toughest fighters cannot beat a failing human body. She needs our help.
When we first started on this rare disease journey, I recall feeling like we were stuck in the past, medically speaking. Nobody knew what was wrong with our child, let alone how to treat her. Science was on our side for getting a fairly quick diagnosis through whole exome sequencing. We continue to exhaust all possible avenues to help her as quickly as possible, from a clinical trial, to vitamins and supplements, best therapies, educational environment, and now research.
On the days when the fight seems too hard and the fundraising has slowed to a halt, the sound of a ticking clock fills our heads. This part is the hardest of all for us as her parents – wanting to do everything we can to help our daughter while being constrained by a short timeframe to stop the disease progression. It’s easy to look at a smiling, happy, healthy looking photograph of a vibrant six-year old and not think about her future. As her parents, though, it’s all we think about.
Timing is critical. Science was on our side for getting a NUBPL diagnosis; now we hope we can push science to discover a treatment she needs NOW to increase her odds of not regressing cognitively and physically. It’s been 55 years since this first patient was diagnosed with mitochondrial disease and there’s still no FDA approved treatment to help patients like Katherine. We say the time is now and we will do everything in our power to advance the needle of research.
It’s like knowing in advance that your child is going to die in a car crash and having the opportunity to stop them from getting in the car that day. Just as we watch Katherine slowly rewire her brain to overcome her physical obstacles, she inspires us to keep pushing for a treatment that will hopefully come sooner rather than later.
There’s an upcoming article coming out soon that will go more in-depth about the research we’re funding, but we want to tell you a little here today. Researchers at the Children’s Hospital of Philadelphia are using cutting-edge Crispr technology to study zebrafish with Katherine’s NUBPL mutations to learn about the natural history of the disease and test currently available therapies.
Donations made today on #GivingTuesday will help us fund this critical research.
There are two places you can make a donation today to support the NUBPL Foundation:
2) Children’s Hospital of Philadelphia (Hope for Katherine Belle Mitochondrial Disease Research Fund)
Also, please consider voting for Katherine’s #GivingStory here. Entries with the most votes are eligible to win up to $10,000.
Thank you very much for your consideration.
Dave & Glenda
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
Here’s a short video of Katherine’s walking progress since March 2017. We will keep you updated with any future progress. As for a medical update, she started the extension phase of the EPI-743 clinical trial in February 2017. She’s scheduled for another MRI in October to find out if the atrophy of her cerebellum continues to worsen. Your prayers are appreciated.
“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:
A little over two years ago, we received Katherine’s results for Whole Exome Sequencing (WES), giving us a name, NUBPL, to the disease that was a mystery to her doctors and is responsible for the atrophy of her cerebellum. Although we finally knew the name of the mutated gene, and that it was considered a rare form of Mitochondrial Complex 1 Deficiency, we didn’t know much more than that. In fact, at the time we quickly learned that her disease was recently discovered.
Although we were elated to receive a diagnosis, we realized that we didn’t know how the disease would affect Katherine’s life. Her doctor had never seen another patient with NUBPL, so he didn’t have much to tell us in terms of disease progression.
We searched the Internet looking for any information we could find, which included a couple of scientific articles citing six patients from 5 unrelated families. From these articles, we learned more about the patients, including sex, age, country of origin, clinical signs, MRI details, when and if they walked independently, and cognitive function. We had no way of contacting any of these families without knowing their names or doctors. We didn’t even have a photograph.
I felt like a detective scouring the Internet hoping to find a clue. I started tagging everything we shared with “NUBPL” and searched the Internet several times a day for a signal from anyone out there who had this disease. I posted in Facebook groups and wrote blog posts, anything I could think of that might put us in contact with another family with this same disease.
Just a few weeks later, I was looking through posts on the Global Genes Facebook page when I noticed a post from a mom sharing a link to a documentary about their 14-year journey to a diagnosis for both her daughters who were diagnosed with NUBPL. As I watched the documentary, tears rolled down my face as I picked up the phone to call Dave to tell him I’d found another family. And that they looked happy and one was walking independently. After living with a misdiagnosis for nearly two years of a quickly fatal disease, I’ll never forget the moment that I saw the smiling face of a 16-year old girl with same disease as Katherine.
Everything is about perspective in this life. After being told that my child was going to die by the age of seven, that first glimpse at Cali Spooner’s face added years to my child’s life. In her photograph I saw Katherine smiling back at the camera. For the first time, I saw Katherine as a teenager.
And then I saw Ryaan Spooner’s face and recognized my Katherine in her as well. And she could walk independently. Their body types were even similar.
I got off the phone with Dave and contacted their mom, Cristy, who responded immediately and we’ve been in contact ever since. She put us in touch with their doctor at UC-Irvine, Dr. Virginia Kimonis, who was growing fibroblasts to learn more about the disease. We contacted Dr. Kimonis and sent Katherine’s skin biopsy for research.
Last week, our family traveled to California to attend the first NUBPL Family Conference at UC-Irvine and to spend time with the Spooner Family.
We heard from several researchers and toured the lab where they have been growing our daughter’s fibroblasts.
And a few days later, we were able to introduce our girls to one another for the very first time.
Both of our families instantly hit it off as we watched our girls play together. We were all sad that the night had to end and we had to go back to living on opposite coasts.
Katherine and Ryaan share a love of dolls and both are fiercely determined and independent. They are very similar in many ways. Katherine watched Ryaan walk independently, which she learned to do at Katherine’s age (they are two years apart). After seeing Ryaan walking, Katherine is now determined more than ever that she’s going to do the same. And I know she will.
Our girls are three of 11 NUBPL patients identified in the world. After spending time with The Spooner Family, I am reassured more than ever that we will find more NUBPL families in the future. These things take time and we are just getting started.
We are two families brought together through science, hope, love, and a fierce determination to give our girls the best chance possible at life. Where science hasn’t caught up, we will fund the research ourselves through our non-profits. Where there are barriers to diagnosing more patients in the future, we will spend our time to eliminate those barriers. And when we cannot find those patients as they are diagnosed, we will do everything we can to make sure they can find us.
As our families were spending time together in California, a mom with two daughters made contact with both of us. Yes, I am hopeful that we will grow our NUBPL community.