Category Archives: Glenda

#TogetherWeFightMito

I’ve been fortunate to have found my “mitochondrial disease mom tribe” through various online support groups, and recently we started brainstorming ways to raise more awareness to fund research.

Although our children fight different types of mitochondrial diseases, we all share similar stories. We’ve all looked into the tear-filled eyes of doctors telling us our babies are very sick, that the disease doesn’t have any FDA approved treatments, no cures, and that we should spend as much time with our children as we can.

Watching our children battle progressive diseases with no treatments or cures is soul-crushing. However, there are several wonderful mito organizations and online patient communities for support, loving and dedicated mitochondrial disease doctors who treat us and guide us, passionate researchers dedicating their lives to cure it, and fierce advocates who help us raise awareness around the world.

And, there’s hope.

Hope that the most common disease most people have never heard of becomes a household name; hope that people realize that curing mitochondrial dysfunction helps us all; hope that this becomes the next frontier of medicine; hope that the world can come together to raise our collective voices to fund mitochondrial disease research before our children die.

Mitochondrial dysfunction exists in all chronic diseases, and is the cause of many familiar diseases, such as Alzheimer’s, Parkinson’s, Autism, ALS, Huntington’s, muscular dystrophy, epilepsy, chronic fatigue, diabetes, fibromyalgia, and cancer. It is a major factor in all problems associated with aging – loss of muscle, declining eyesight, lack of energy, wrinkling, inability to heal, mental decline, and organ failure. Someone in her 70s has only about 20% of the functioning mitochondria she has in her 20s. That’s why research is important for everyone, not just our children. Everyone will have mitochondrial dysfunction eventually, so if we learn to boost their function, to boost the healthy mitochondria, or stave off the detriments, it could be a breakthrough for all of us.

We are just parents trying to save our children. It’s really that simple. Each day we shout out our stories to anyone who will listen with the hope that today will be the day that the world listens and funds this critical research.

One day, not long ago, one of the moms from our group was discussing how the recent international attention for a very beloved mito angel made her feel less alone in her own journey, when a lady responded with a simple, yet powerful hashtag, #TogetherWeFightMito.

And from that meaningful hashtag, the Together We Fight Mito awareness campaign was born. A dozen parents, and one mighty advocate, banded together online and across continents to design a global platform that unites and energizes the international mitochondrial disease community to come TOGETHER to harnesses the passion and determination of every mito patient and advocate around the world. Together, we fight mito. Together, we cure mito. #TogetherWeFightMito

Our greatest hope is that everyone will become advocates for mitochondrial disease. This campaign is on-going, so we hope the momentum built this week will continue to grow in the coming months.

We are asking families to share photos with us of their loved ones fighting mitochondrial disease so we can show the many faces of mito. We are also asking both public figures and regular folks from around the world to come together and share photos of themselves holding #TogetherWeFight signs and donate $1 (or more) to fund research.

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Remember the ALS Ice Bucket Challenge? Of course you do! These seemingly silly challenges not only raise awareness, but they also produce results. Three scientific breakthroughs resulted from the ALS Ice Bucket Challenge. We need something similar for mitochondrial disease and the time is NOW to make that happen.

So grab your markers and paper, and make a #TogetherWeFightMito sign to hold while you snap your selfie. Then, copy and paste this message with your photo and post it on your social media accounts:

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I just accepted the #TogetherWeFightMito #Selfie challenge and donated to fund critical mitochondrial disease research, and I challenge YOU to do the same.

1) Make a #TogetherWeFightMito sign and take a photo holding the sign
2) Follow Together We Fight Mito at https://www.facebook.com/TogetherWeFightMito/
3) DONATE $1 or more to fund critical #mito research. Tax-deductible donations here: https://www.umdf.org/togetherwefightmito
4) POST YOUR photo (make sure the privacy setting is PUBLIC)
5) CHALLENGE FIVE friends and TAG them to do the same
COPY & PASTE  this message when you share your #TogetherWeFightMito #selfie
Let’s raise our voices TOGETHER! Together, we fight mito. Together, we cure mito. #TogetherWeFightMito

This campaign was launched one week ago today. This has been the response so far:

 

Follow Together We Fight Mito on Facebook and Instagram.

Photos can be upload on the Together We Fight Mito Website

Together We Fight Mito Campaign in the News:
Family raises awareness as daughter fights rare disease
Georgetown family’s fight against mitochondrial disease

Click here to purchase a #TogetherWeFightMito (Proceeds fund research)

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Mitochondrial Disease Awareness Week 2017

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.

Screen Shot 2017-09-01 at 10.22.43 AMThis 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.

Here are a few links we’ve seen so far:

Right This Minute (Viral video show)

Nieuwsblad (Belgian newspaper)

We will be sharing more awareness resources over on our Facebook page Hope for Katherine Belle this month, so look for our posts to read and share.

Ways To Help Us Raise Awareness

1. Share Katherine’s Facebook page, Hope for Katherine Belle.

2. Share the link to our non-profit (NUBPL Foundation) Facebook page, NUBPL.org.

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.

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Arabella, Making Memories for Arabella
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Alex and Blue, Alex and Blue Fighting Mito Together

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:

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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.

Katherine Belle Walking, Age 6

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.

 

 

2017 Bi-Annual Report

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).
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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
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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.
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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.
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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).
KY-gives-day-logo7) 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.
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8) In June we with researchers at the Mitochondrial-Genetic Disease Clinic at the Children’s Hospital of Philadelphia (CHOP) and toured their laboratory.
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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.

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Two NUBPL Families Meet For First Time, 2,000 miles apart

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.

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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.

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The Spooner Family

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.

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We heard from several researchers and toured the lab where they have been growing our daughter’s fibroblasts.

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And a few days later, we were able to introduce our girls to one another for the very first time.

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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.

1st NUBPL Foundation Fundraiser

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.

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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.

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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.”

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Rare Bourbon for Rare Disease Fundraiser

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.

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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.

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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.

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You may also mail donations:

NUBPL Foundation
230 Lancaster Avenue
Richmond, KY 40475