TODAY is Kentucky Gives Day, an online 24-hour annual fundraising event bringing charities and Kentuckians—near and far—together for a powerful day of action.
Last year, the NUBPL Foundation won 2nd place overall for most funds raised in 24 hours. Impressive! With your donation TODAY, we aim to win 1st place and win an additional $1,500 for research. In case you missed it, here’s an in-depth article from The Pennsylvania Gazette about the critical research you are supporting.
Research dollars are difficult to come by for rare diseases, and your generous donation goes a long way toward helping us meet our goals. NUBPL is a progressive disease with zero FDA approved treatments. Once the brain cells have died, there is no bringing them back.
We are racing against time to save our children.
As the parents of a six-year old affected by this devastating disease, we cannot thank you enough for supporting our cause and helping keep hope alive for her future. Thank you!
Every single day is mitochondrial disease awareness day for our family, but it just so happens that global mitochondrial disease awareness is celebrated annually during the third week of September. This year, Mitochondrial Disease Awareness Week is September 17-23.
Every year for the last four, we’ve tried to do something a little more to help spread awareness throughout our community and beyond by requesting Kentucky’s Governor to issue a Mitochondrial Disease Awareness Week proclamation, writing this article for The Mighty Publication, What is Mitochondrial Disease? An Explanation for Non-Scientists, selling t-shirts with our recognizable #Hope4KB hashtag, and sharing #Hope4KB photos people send us from around the globe.
This year, Dave has been invited by the United Mitochondrial Disease Foundation (UMDF) to lead a webinar called “Advocating In Your State,” during which he’ll provide helpful insight into how we passed the Kentucky ‘Mito Cocktail’ law as well as ways to help others try the same in their own state. This webinar is scheduled for September 20, 2017, during Mitochondrial Disease Awareness Week. Interested participants can register with the UMDF here.
Some of you may have noticed that Katherine’s therapy trike riding video is becoming a big hit on the Internet. Please send us any links or videos of it being shared. Every time it’s shared and the words ‘mitochondrial disease’ are mentioned, she is spreading more awareness.
3. Send us your #Hope4KB photos by posting them to Katherine’s Facebook page. We really want to see YOU and love adding these photos to our ever growing album. Green is the color for the mitochondrial disease awareness ribbon. This is a FREE and fun way to bring awareness to mitochondrial disease and #Hope4KB, so make a sign, snap a photo, and share it with us. And ask friends to consider doing the same. We spread awareness by talking about it with others – tell people about Katherine and her story so you can help put a real face to this horrible disease.
4. Add a Mitochondrial Disease Awareness photo frame to your Facebook profile picture to let everyone know about it being awareness week. Here’s an example of one we used, which you can get by clicking here:
5. Make a tax-deductible donation to support mitochondrial disease research and fund treatments/cures (there are currently ZERO FDA approved treatments for Mitochondrial Disease): Katherine Belle Mitochondrial Disease Research Fund at the Children’s Hospital of Philadelphia.
6. Katherine has made it on the EllenNation website (The Ellen Degeneres Show). Register, vote, comment, and share (NOTE: You can only vote once overall – voting more than once will result in a negative vote). Click here to vote for Katherine Belle and raise awareness for mitochondrial disease.
7. Share this blog post with your friends and family.
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.
Unbeknownst to me when I ordered it, this birthday crown is clever and cost efficient. Instead of buying a new one every year, I can use the same one and just add a new number…you get the idea. Unfortunately, this little crown brought so many tears. Will she get to use every number? Please let her use all of these numbers.
Looking back, we realize that every prior birthday has greeted us with worries. By her first birthday, we knew something was wrong; our expectation that she would walk prior to turning one proved untrue and her motor development had stalled. Our nagging worry at one was a gut wrenching terror by two; she still was not walking. On her third birthday, we were living under a death sentence and the day was a bittersweet reminder that we probably had few such occasions left…Today, we have a new – an accurate – diagnosis, NUBPL, Mitochondrial Complex 1, and a new hope. This is a happy day and one of many more to come.
As I carefully placed those five pink and purple candles on top of her cake, a sense of relief washed over me. The haunting statistic that “30% of children with rare and genetic diseases will not live to see their fifth birthday” is now behind us. Yes, there are many struggles ahead, but it’s an indescribable moment to see those happy and beautiful sparkling eyes glowing in the light of five birthday candles.
Soon after Katherine’s (mis) diagnosis in 2013, I wrote the following:
I do not know what tomorrow brings. None of us do. I believe in science, prayers, hard work, positive thought, and the healing power of love. 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.
I have cried many tears in the last three years from witnessing the physical decline and death of numerous children with rare diseases we’ve met through social media. Instead of planning birthday party celebrations and school graduations, I have watched families plan funerals and suffer more than any human ever should.
As we continue ahead beyond this fifth birthday milestone, my own words lead me into the next chapter:
The past few years have been excruciatingly painful and tough, but I have learned a very valuable lesson: You never know what the next second of your life will bring. My daughter guides me daily and reminds me that each moment is precious. Each day is a gift. She has taught me the significance of the quote, “We do not remember days, we remember moments.” I have learned to enjoy and live in the present because it truly is the only moment that matters.
Lexington has a father-daughter dance organized by the Her Knight organization. I took Katherine Belle to our second such dance this past Saturday. Here is a little update on our date:
Katherine’s dress was beautiful. Glenda somehow managed to take pictures of her in it, looking serene and regal. The truth was much different. She was worked up and maniacal. These pictures were somehow captured mid-action at precisely the right time to make them look posed. In fact, in my favorite photo below, you can see her left hand clutching her dress to pull it up to rub her face. Yet, somehow, my wife caught her looking calm, mid yank.
After she was dressed, she looked at herself in the mirror and said “I’m a Princess!” Yes, you are indeed.
Katherine is a very shy little girl, much like her parents. Noise and commotion make her withdraw all the more. As a result, when people came up to talk to her at the dance, she would not talk back. At best, she would smile. Then, when they left, she would talk about them non-stop. This happened several times, as we met several dads and volunteers who knew Katherine from our blog. I loved seeing them and them introducing their daughters to Katherine. Katherine enjoyed this as well. For example, after meeting a dad and daughter in line for photographs, Katherine commented “I really am a famous princess!” because they recognized her. She would not talk much while eating at our table or in line, but several fathers and their daughters made a really positive impression on her.
Katherine and I spent about an hour of the dance with her dragging me around. I held her hands from the back, while she “walked.” She would periodically hop (with me boosting her in the air), which is her version of dancing. This was really fun for her, as she loved the way her dress puffed up when she jumped. She often squealed when we did this. She also had a head bobbing, stomping move that would be more at home in a mosh pit than a daddy daughter dance, but, hey, it was fun for her.
She also loved the Chik-fil-a chicken nuggets and the cookies, but not so much the Chik-fil-a cow mascots. The stuffed ones were okay, but the life-sized moving ones were still scary, despite a recent trip to Disney to see similar characters. In fact, after an hour of dancing, our evening ended abruptly after one of the cows approached her too closely. She demanded an immediate exit – well, she delayed long enough to grab a cookie.
I want to thank Her Knight, and Amanda Bledsoe in particular, for putting on such a great event. You truly made Katherine’s day. Mine even more. Katherine spent all morning Sunday telling her dolls she was “Princess Katherine Belle” and making them “knights.”