Tag Archives: Mitochondrial Complex 1

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

2016 Rare Disease Day $1 Challenge

We all live a life that can never be fully conveyed through social media – a world we see daily that cannot be shared or adequately described through five second sound bites or a quick snapshot. These moments are felt and lived, not shown and told.

I give you countless examples and observations, but I know I always fall short in my depiction. At the end of the day, all I have is a promise to myself and my daughter. It’s easy to tell myself I’m doing enough, and I am in the normal world, but nothing about our journey is “normal.”

We must push forward and harness the scientific possibilities for treatment beyond clinical trial drugs and therapy. We are growing Katherine’s stem cells and raising money to fund NUBPL research. Advances are being made daily and we need to fuel it. This is what I mean by not giving up.

I fight a daily battle on the home front, which is mighty enough, but there’s a larger war beyond our doorstep that, if won, can ease the struggles of all of our personal fights.

This is what ‪#‎Hope4KB‬ means to me.

February 29th is Rare Disease Day 2016 – just 55 days away. Each year we try to do something special to raise awareness. Last year we sold #Hope4KB t-shirts and asked that you wear them on Rare Disease Day. We raised $2700 for rare disease.

Our $1 challenge for 2016 is simple:

  1. SHARE this post; and
  2. Challenge yourself to donate just $1 (or more) to one of the following: Hope for Katherine Belle or The Spooner Girl Foundation. Our daughter’s disease is called NUBPL and has been linked to Parkinson’s Disease. (Click here for the full bio of lead researcher, Dr. Virginia Kimonos.) All donations will directly go to NUBPL research, treatment, and hopefully, a CURE! It is amazing how much can add up if everyone gives just a little.

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EPI-743 Trial Update

It’s the dawn of a new year and new possibilities. So much has happened since our last update, so let’s start there.

Katherine entered the EPI-743 clinical trial at the beginning of August. As a part of the trial, Katherine is monitored very closely – monthly blood work at home and/or at the National Institutes of Health (NIH) –  to look for changes in her body while she’s on EPI-743/placebo.

What is EPI-743?
EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1).

How is it given?
EPI-743 is administered orally or through a gastrostomy tube.

How was EPI-743 discovered?
EPI-743 was discovered and developed by Edison Pharmaceuticals by using a technique called high throughput screening. Edison evaluated thousands of chemicals that target cellular electron handling, and finally selected EPI-743 based on its ability to work, be orally absorbed, and its safety.

Why can’t my doctor just prescribe EPI-743?
EPI-743 is an experimental drug. It cannot be prescribed yet because the FDA does not approve it. Access can only be obtained through clinical trial enrollment. Results will be closely monitored at specified enrollment sites, under the direction of clinical research investigators.

Are there additional clinical sites being established? Additional trial sites are being established in Europe, Japan, and in North America.

In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.

In March 2016, Katherine will begin the “washout” phase of the trial – a two month period when she will not take anything, placebo or EPI. (It takes around two months to completely leave your system, thus the “washout” before entering phase II.)

Each person we’ve encountered at the National Institutes of Health is above and beyond wonderful. We feel so fortunate to be a part of their program and could not ask for a better experience. We are grateful for the opportunity to meet so many dedicated and caring individuals.

Many people ask us if we think Katherine is currently on the placebo or EPI? We have no idea, honestly. For example, she hasn’t DRASTICALLY improved, i.e. started walking independently; however, she has maintained her skills and improved in some areas, so it is hard to say.

She started Pre-K in August and loves it.

She is getting more therapy than EVER with three physical therapy sessions, two occupational therapy, and speech therapy per week. One physical therapy session is done on a machine called Geo, which uses treadmill therapy to make her walk. Not only is it creating muscle memory  and tone, it is creating new pathways to her brain. Very amazing technology.

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All of these changes have happened since she started the EPI trial, so it would be hard to say if she’s improving because of school and therapy or because she’s on the actual EPI drug and benefitting from it. Time will tell.

Of course we fantasize that she’s currently on the placebo and something miraculous will happen in the coming months. Realistically, though, miracles have already happened – at the moment she’s thriving, happy, loving school, and hard working at her therapies. Katherine is the most determined person I know, truly.

This time last year she was still undiagnosed (and we believed she had INAD), we were thinking about her Wish trip, and I had just prepared what I feared would be her last Christmas meal.

Placebo or EPI, we are fortunate in so many ways.

The constant for us is that we simply do not know what the future holds. That will never change. All I can do is keep you posted as it unfolds. Your perspective changes so much on this journey. In the end, EPI may or may not be the answer. Sometimes the benefit isn’t improvement, rather it prevents further regression. The good news is that if it proves beneficial, then she can continue to have access to the drug even if it is not on the market. I am hopeful because clinical trials exist and science is making great strides daily. None of this would have been possible just a few years ago, so I am thankful that our daughter can possibly benefit and contribute to research, treatment, and hopefully a cure.

We wish all of you a very Happy 2016!

What A Difference A Year Makes

One year ago we entered the darkest three month period of my life. We had lived for over a year with a diagnosis that our daughter, Katherine, had an incurable and fatal disease, Infantile Neuroaxonal Dystrophy (“INAD”). Two top neurology practices had independently opined that she was “over 90% certain” to have this condition. Her failure to follow a classic course for the disease and lack of typical genetic mutations associated with the disease (80% of the time) was attributed by the physicians to her having an atypical form (the other 20%).

Based on my research and observations of Katherine, I spent the first 14 months of the post-diagnosis period not believing these physicians were correct – or in a state of denial. Then came November of 2014.

INAD is progressive.  A person’s physical skills decline fairly rapidly. Although Katherine’s balance had grown somewhat worse and her MRI confirmed that she had atrophy in the “balance center” of her cerebellum, her progression was not as rapid as one expected for INAD, and did not follow the same pattern. Our Katherine had no balance, but she could move every part of her body. She was full of energy and spent hours playing, and climbing on us, on couches, on bookcases, on everything she could find.

In November of 2014, things began to change and change rapidly. Her climbing became clumsy.  She then started asking Glenda and I to pick her up to put her on the couch or our low-profile platform bed. “I can’t climb anymore” she would tell us,” pick me up.”

Her energy began to wane. Her rapid and energetic crawling from bedroom to den and back, slowed. She’d often stop mid-way now and say “can you carry me?”

This continued until early December when she had a strange episode that appeared to be a seizure. She had a strange movement, like violent, but unproductive vomiting, followed by being barely responsive for a period of time. We took her to the hospital during one of these episodes. Based on her INAD diagnosis, which often leads to seizures, neurologists ordered a multi-day in-hospital video EEG. We spent several days with Katherine hooked up by wires to EEG equipment, our every move on video.  At the conclusion of this horrible period, the doctors said that they did not see seizure activity, but believed she had had one.  They placed her on Keppra for seizures.

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November 2014
After another trip to the ER for a similar episode, we approached Christmas with a different little girl than the one we had at Halloween.  A lethargic, clumsy child, now unable to climb, and suffering from what appeared to be seizures. Her decline had been rapid.  For the first time, I believed, truly believed, that Katherine had INAD. I had just been in denial.  My daughter was dying in front of me. By Christmas, I was convinced that it would be her last. At this rate, there was no way she would make it to December of 2015.

The holiday was stressful. I fought with my parents over the need for them to spend some part of Christmas day with Katherine even though this would break their holiday tradition of spending it with their healthy 8th grade grandson.  He would be around next year to resume “tradition.” The same could not be said of Katherine. They would always regret not spending Christmas morning watching Katherine’s eyes light up at seeing the presents under the tree. They eventually agreed to come.

We spent New Year’s snuggled up with Katherine, watching the dawn of her last year.

After barely surviving the holidays, we headed to Florida for a much needed respite.  Friends had offered us the use of their condo in Sarasota for a week.  We decided to spend a few days at Disney World to see if Katherine liked it and had the energy for it. She is “wish eligible” for the Make-a-Wish Foundation, and it appeared that we would need to make our wish soon, while Katherine was still able to enjoy it.  A two day trip to the Magic Kingdom would tell us if this common wish would be right for her.

Upon arrival in Florida, I received two terrible notices.  The first was to tell us that despite being pre-approved, Humana had decided to reject our claim for Whole Exome Sequencing after the fact. That’s right, they told us we were approved to perform the test, we sent it off, and then when the bill was submitted, they changed their mind and we were informed that we owed approximately $27,000 for this testing.

Soon thereafter and due to an internal snafu involving a change in payment administrators of the insurance, we were mistakenly told that we had no insurance for Katherine, retroactive to December 1. We received bills for Katherine’s hospital stays of over $55,000.

I sat in shock in the Florida condo, adjusting to the fact that $82,000 in bills had just hit us. Happy New Year!

But in more important ways, it was a Happy New Year.  As sudden as Katherine’s regression had been, she progressed just as rapidly. Her energy level spiked.  I will always remember our second day at Disney. We got up extra early for a breakfast with Mickey, Donald, Goofy, Daisy and Minnie. We spent all day at the Magic Kingdom, taking ride after ride. We went to dinner, and she danced and danced while we waited for a table. We watched the fireworks from the shuttle line. I looked around at all the parents.  None had any energy left, nor did the children. Most of the kids around Katherine’s age were already deep asleep in their weary parents’ arms. Not Katherine. In line, she watched the fireworks with excitement. She screamed at the skies, and jumped up and down with my hands as support.

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Disney, January 2015
Her climbing returned as well.  A day after Disney, on our way home, we stopped to visit Glenda’s mom for a couple of days.  There, Katherine grabbed the top of her portable crib with both hands, planted her feet in the wall and hurdled over the top onto a bed, looking more like an Olypmic high jumper than a dying little girl.

We did not know if this was the Keppra, but it started to look up.

Then, the insurance debacle was worked out, and it was acknowledged that we had coverage all along. An appeal from the Whole Exome testing denial was successful.  $82,000 in bills vanished.

Finally, in February, the Whole Exome tests came back.  The physicians’ “over 90% certainty” was misplaced.  Our denial was correct. Katherine did not have INAD.

This brought more changes for us.  We entered Katherine in school, something that seemed impossible last year.  She is in a clinical test for a drug to treat her medical condition. She is off the seizure medication. We have seen no declines since our dark three months around the holidays. To the contrary, she is progressing. We moved to town near Katherine’s school to give her a handicapped accessible home and to get her into her school community. She loves both school and new home. Katherine faces many struggles. We all face the possibility that her condition is progressive. Katherine cannot walk and is behind in many of her motor skills. She needs speech, physical and occupational therapy.  We hope she will be accepted by her school peers for the smart, funny, tough, and beautiful “big girl” she is, and not the baby she may appear to be (based on her motor development compared to their own).

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August 2015
But the shadow of death that seemed so close and so dark last November, December and January, no longer hangs over us.  Glenda is in heaven in our new house and has started blogging about it (www.pinkdoorlove.com). For me? I have gone from being at the lowest extended period of my life last year, to being as happy as I have ever been.

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Our new home in Richmond, KY, September 2015
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October 2015
What a difference a year makes.

Exhale

Exhale.

I had a baby four years ago –
Baby never walked.
Physical therapy, occupational therapy, MRI…
Baby girl will die.

Not my baby girl, said I.

“Spend as much time with her as you can” –
Doctors, testing, genetics GALORE.
Stabbing pain in my heart…
Baby girl will die.

Not my baby girl, said I.

I see something you don’t see –
A fighter. A warrior.
She has her mama’s spirt…
Baby girl will not die.

Not my baby girl, said I.

Exhale.

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Happy first day of school, baby girl. We love your spirit and determination.

Four

Today, our beautiful Katherine Belle turns four years old.
IMG_4102_2Looking 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.
IMG_2674IMG_8819Today, 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.IMG_4122_2 IMG_4073_2

Happy 4th birthday, Katherine Belle.  We love you baby girl!

Xoxo,
Mama & Daddy

NUBPL – Mitochondrial Complex 1

IMG_6825As many of you have already heard, KB was recently diagnosed with NUBPL – a rare form of Mitochondrial Complex 1 disorder. We cannot say enough good things about the genetic testing company, GeneDx, that provided the Whole Exome Sequencing. They have a very generous financial assistance policy (FAP) that allows them to work with patients on their out-of-pocket-costs, which is such a blessing on this financially strenuous journey.

We are pleased to let you know that since being diagnosed with NUBPL we have found another family with two daughters, Cali and Ryaan, with this same disorder. From the moment we watched their video, The Life We Live, and saw their photographs, we knew we found our community. What’s more is they are a wonderful family who shares the same passion for their family and drive to find a cure. They introduced us to their doctor, Virginia Kimonis, University of California Irvine, who has discussed her research with us. Here’s a wonderful article about Dr. Kimonis and The Spooner Family. We have spoken at length with Dr. Kimonis and are planning a trip to California to meet with her team and The Spooners.

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The Spooner Family

At this time, we have just three patients from the United States – Cali, Ryaan, and Katherine Belle. We are very hopeful we will find others in time. For now, together we face the monumental task of privately funding NUBPL research. Both families agree we will not let financial obstacles stand in the way of helping our children. We have created a NUBPL.org site and Facebook page to facilitate the search for other NUBPL patients and raise funds. Please take a moment to view our new site and Facebook page and share with your networks. A special thanks to Matt Might for the shout out in his informative post, Discovering new diseases with the internet: How to find a matching patient.

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Cali, 16
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Ryaan, 6
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Katherine Belle, 3

Last week we learned the wonderful news that KB has been accepted for the U.S. National Institutes of Health EPI 743 clinical study. We feel very blessed to be in this study and are quite hopeful this drug will greatly improve her mitochondrial function. We are hopeful that Cali and Ryaan will be admitted to this trial in the future.