Category Archives: Glenda

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

Rare Disease Day 2017

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.

2016: A Year in Review

Hands down, 2016 has been our best year since our family was thrust into the world of rare disease.

Unlike previous years, we entered 2016 with an accurate diagnosis, enrollment in a clinical trial, therapies tailored for Katherine’s specific needs, and a new home with a layout better suited for Katherine’s physical challenges.

After enduring several years of emotional setbacks, uncertainty, and seemingly endless financial strain, 2016 brought much needed stability and a renewed sense of hope and vision for the future.

Katherine’s Year

  • She finished her first year of school (pre-K) at Model Laboratory School in Richmond and is currently in Kindergarten, where she has made many friends and loves her teachers and therapists. She says she wants to be a teacher, a doctor, a mommy, and an ice cream maker. Her favorite activities are P.E. and Library. She has an IEP, is fully integrated, and, with assistance, does EVERYTHING the same as her peers. They are her biggest cheerleaders. Katherine turned five in July. She is able to write her name with little or no assistance.
  • Therapies: Aqua, Hippo (Equine), Geo (walking machine), Occupational & Physical, Speech, and Vision. Additionally, Katherine completed swim lessons this summer and is currently enrolled in an adaptive dance class. She has at least one form of therapy every single day.
  • She completed the EPI-743 clinical trial for Metabolism or Mitochondrial Disorders. As a part of the trial, Katherine was 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 was 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). 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.
  • Katherine participated in a second NIH study about immunizations for patients with metabolic disorders.
  • She also is on a compounded medication commonly called a “mitochondrial cocktail” that supplements one of the chemical products of Complex I, being a substance called Ubiquinol, a form of CoQ10.

Legislative Advocacy
Dave and I grew increasingly frustrated that while Kentucky law mandated coverage for the “Mitochondrial cocktail,” private insurers continued to deny coverage month after month.

In April 2016, we decided it was time to advocate on behalf of all Kentucky Mitochondrial disease patients by working with Representative Rita Smart and Senator Ralph Alvarado to include a floor amendment in Senate Bill 18 to specify that Mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease.

Kentucky is the first state in the nation to mandate that private insurance companies cover the vitamins and supplements prescribed by a physician for a “Mito Cocktail.” The new law goes into effect on January 1, 2017.

Awareness

In March 2016, I became a contributing writer for The Mighty to increase my rare disease awareness reach. Below are links to my published articles:

Mitochondrial Disease Explained for Non-Scientists

How To Become A Legislative Advocate For Your Child

10 Practical Tips for Parents Feeling the Shock of a Rare Disease Diagnosis

Three Things I Want To Tell The Mom Receiving a Rare Diagnosis

Learning To Live In The Present With My Daughter With a Rare Disease

Non-Profit Status/Fundraising

In November 2016, we founded the NUBPL Foundation with the mission to fund NUBPL research, awareness, and support.

We are honored to be selected as 1 of 50 non-profits to receive a very rare bottle of O.F.C. Vintages (1982) bourbon from Buffalo Trace for our very first fundraiser (February 2017). We are finalizing all the details and will post event information at the beginning of 2017. We are thrilled to marry our passions to raise awareness and funding for NUBPL through our Rare Bourbon for Rare Disease fundraising events. All donations are tax-deductible and 100% of proceeds go directly to research and support.

We are on a mission to assemble a team of the world’s best researchers dedicated to finding a treatment/cure for NUBPL.

Just last week we had the honor of being invited to the White House by Matt and Cristina Might to celebrate their son Bertrand’s 9th birthday and meet their NGLY1 team for a discussion of Precision Medicine and NGLY1. We are so grateful for their love and guidance on this journey. (I am working on an in-depth article about their family, organization, and guidance…stay tuned.)

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We are grateful for each of you and look forward to our work in 2017. Thank you for being a part of our journey.
Love,
Glenda, Dave & Katherine Belle

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Tips for Successful Legislative Advocacy

In April 2016, Kentucky became the first state in the country to pass legislation that mandates private insurance cover prescribed vitamins and supplements for mitochondrial disease patients.

Twice a day our five-year-old daughter takes a compounded mixture of vitamins and supplements known as a “Mito cocktail.” Prescribed by her neurologist, this cocktail has shown many positive results, including increased muscle tone, stamina, stability, and a lessened intention tremor.

To date, the Mito Cocktail is the only treatment currently available for mitochondrial diseases.

However, less than 10% of insurance carriers cover this needed medication. Although Kentucky law already mandated coverage, our private insurance carrier continued to deny coverage every month, even going so far as to insinuate that our daughter takes it for “cosmetic purposes and performance enhancement.”

Frustrated and angry over the blatant wrongdoing by insurance companies, we decided it was time to clarify what was already mandated in existing Kentucky law.

Over the past few months, many have asked for advice so they can duplicate our success in other states. Before offering a few general tips to help get you started, I would be remiss not to mention that, combined, my husband and I  have a legal and policy background. We have good friends who are Kentucky state legislators and we are familiar with the political players of our state. Further, since 2013, we have become vocal, well-known advocates for our daughter through our various social media accounts, our blog, Hope For Katherine Belle,  as a contributing writer for the The Mighty, and by appearing in The New York Times Motherlode Blog. Yes, our careers and platform were instrumental in the speed with which we passed this bill, but don’t be discouraged if you don’t have a similar background.

Finally, I believe timing played an important role in rapid passage. During the same session, Senate Bill 146, known as “Noah’s Law,” called on insurance companies to cover amino acid based formulas, just as we were calling on insurance companies to cover prescribed vitamins and supplements for mitochondrial disease patients. Early passage of Senate Bill 146 and subsequent publicity was fortuitous: Legislators became familiar with the ways insurance companies manipulate language to deny coverage for medically fragile patients. Senate Bill 146 sponsor and physician Senator Ralph Alvardo had another bill filed relating to insurance – Senate Bill 18 – to which the following floor amendment was later added:

HFA2/HM( R. Smart ) – Amend KRS 304.17A-258 to specify that mitochondrial disease is an inborn error of metabolism or genetics to be treated by products defined as “therapeutic food, formulas, and supplements” and that health benefit plans that provide prescription drug coverage shall include in that coverage therapeutic food, formulas, supplements, and low-protein modified food products for the treatment of mitochondrial disease; specify that this act shall take effect January 1, 2017.

Tips for Successful Legislative Advocacy: 

1. The best advocate is an individual personally affected by the proposed legislation. Although a legal and policy background is helpful, it is not required to be an effective advocate for your child or yourself. Advocacy work is not for the faint at heart – it’s a slow, frustrating, deeply personal process, and, arguably, the most crucial part of the  legislative process. With hundreds of bills filed per session, legislators depend on advocates to educate them about a subject matter and, as the expert, you are the most qualified person for the job.

2. Request a face-to-face meeting with your representatives or their staff during the slower months between legislative sessions.
They represent your interests and should be willing to listen to your concerns. Tell your representatives your story. You are the expert; teach them everything they need to know. Schedules are packed during session, so it’s best to establish a relationship well before the start of session – this will give you ample time to tell your story and draft any proposed bill language. Likewise, meeting with legislators is an excellent way to learn more about the internal dynamics of your state legislature. Your legislator may not be able to help you directly, but they can help you navigate your way to the person who can be most helpful. And trust me, if you worked around legislators, you would quickly realize there’s no reason to be intimated by them. Yes, they are public figures, but they’re human just like the rest of us.

3. Do your homework and be specific.
While your personal story is the most powerful component, be prepared to share any relevant medical and scientific research as it relates to your cause. Likewise, you have a much better chance of success if you can present legislators with a complete package of drafted legislation, including where it falls in your state’s statutory scheme, as well as any statistical and economic information related the bill.

4. Create a “buzz” for your cause.
Establishing a “presence” through social media is a powerful tool to communicate your cause. Don’t limit your audience to just your own district or legislator – increase your reach across the entire state. For example, create a Facebook page dedicated to your legislative efforts, contact local media, or involve support organizations to broaden your reach. Ultimately, the bigger the “buzz,” the harder you are to ignore. For example, our daughter’s Facebook page and blog has a strong following. When we made the call for action, people listened and acted. Providing simple to follow links with letters to copy and paste and telephone numbers to dial, our grassroots strategy quickly gained momentum across the state. Voters were voicing their support for SB18 and legislators were listening to what their constituents were telling them. Just as you presented a complete package to your legislator, it’s as important to present a complete package to your supporters.

5. Know your audience and be prepared for the unexpected.
Do your research on the political climate and the key players in your state legislature. Even though your cause should be a non-partisan issue, I cannot emphasize enough the role politics play in the legislative process. Although this may not always be the case, brace yourself for the ugliness that is involved in the making of laws. Understand beforehand that it is within the realm of possibility that your cause will be used as a political football. Powerful opponents may come out against you. Establishing a public presence and creating a “buzz” for your legislation is key leverage should you need it. There is only so much a legislator can do from inside the legislature to get a bill passed. Your outside advocacy strategy may play an even more important role.

6. Never give up.
You are unlikely to succeed the first time you try to pass any legislation. Keep trying. Involve more advocates, make more alliances with key legislators, and never stop advocating for your child. Nothing on this planet is more powerful than a parent’s love for their child.