Taylor’s Law: North Carolina’s rare disease advisory council

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Taylor King, 17, and her mother Sharon.

On July 29, 2015, house bill 823, An Act Establishing the Advisory Council on Rare Diseases within the School of Medicine at UNC Chapel Hill, was ratified by the North Carolina General Assembly. The Governor signed this legislation on August 5, 2015.  The legislation received bi-partisan support and passed unanimously through the NC House and Senate. Now, a year later,Gov. Pat McCrory following a unanimous vote by the N.C. legislature has renamed the legislation Taylor’s Law in honor of Taylor King, 17, who suffers from infantile Batten disease. To read the article click HERE.

Taylor’s Tale, a 501c3 nonprofit organization, was founded in 2007 by family and friends of Taylor King of Charlotte, North Carolina, who was diagnosed with infantile Batten disease in 2006 at age 7. Since then the organization has been a leader in rare disease advocacy efforts.

Taylor’s Tale President Sharon King was the catalyst for this bill, which was championed by N C. Representative Becky Carney (D-Mecklenburg). Sharon first presented the idea to state legislators at a breakfast sponsored by Taylor’s Tale in late March 2015. After the bill was filed on April 14, it sailed through the House and Senate in just over three months, passing unanimously at each stage. House Bill 823 established an advisory council on rare diseases within the School of Medicine of the University of North Carolina at Chapel Hill.

This council will act as advisors on research, diagnosis, treatment and education relating to rare diseases. Appointed members will include:

  • A physician with experience researching, diagnosing or treating rare diseases
  • A medical researcher with rare disease research experience
  • A registered nurse or advanced practice registered nurse with experience treating rare diseases
  • One rare disease survivor
  • One rare disease foundation representative
  • One representative from each academic research institution in North Carolina that receives any grant funding for any rare disease research

RELATED LINKS

http://www.charlotteobserver.com/living/health-family/article87232977.html

http://taylorstale.org/advocacy-efforts/

http://www.med.unc.edu/ncrarediseaseinstitute/about

https://battenblog.com/2015/10/01/my-perspective-laura-king-edwards-8/

BBDF Attends Batten Registry Conference in Germany

IMG_0672Mary Beth Kiser, BBDF President & CEO, is currently in Germany, attending a patient registry meeting aimed at coordinating and collaborating a comprehensive Batten disease registry.The meeting includes Batten clinicians and researchers from Germany, France, Japan, Finland, Turkey, Serbia, United States, United Kingdom, Netherlands, Spain, Italy and Poland. Registries are important for patient care, clinical trials, and to suggest research areas based on natural history information.

My Perspective: Debbie Dovel

2015-07-25 001 002NASCAR, Dale Earnhardt, Jr., #88, & Mountain Dew – Words I don’t hear as much as in years past, but words that filled our days when our son was alive. We still keep up on the races since he’s been gone this past year and a half, but it’s just not the same anymore. Sunday afternoons now from February thru November are not always spent sitting anxiously in front of the TV listening to the National Anthem being sung in preparation for this week’s NASCAR race, nor for the rumble of almost 50 Sprint Cup race cars as the celebrity of the week announces “Gentlemen, start your engines!”. Chad would sit on the edge of his seat and ask us every five minutes “Where’s Junior?” throughout the entire 3-4 hour race. We still cheer for Junior, but when he doesn’t win, we miss hearing the words that Chad always said after each loss, “He tried, Dad! He tried!” When we see Dale Earnhardt, Jr.’s car racing around the track at Daytona, Indianapolis, Charlotte, or some other track, I think of the words he said to Chad at Kansas Speedway in April of 2013 when we met him, “I just wish I had your “nerves of steel”, Chad, when I’m out there racing!” Junior was so impressed with Chad’s bravery and courage in facing Batten Disease that finally took him from us on Feb. 9, 2014.

There’s another person whom Chad truly admired and was proud to call “friend”, and that is Kerry Stitzel. Kerry is the Southwest Iowa Transit bus driver who picked Chad up four days a week and transported him to and from Nishna Productions, a sheltered workshop in Shenandoah, IA. On their trips back and forth, they forged a strong friendship and discovered their mutual love of NASCAR racing, although they differed on who their favorite drivers were. Kerry was a Tony Stewart fan, and of course, Chad wouldn’t cheer for anyone but Junior. Every race, they had an ongoing bet on who would have the best finish. Whoever’s driver finished behind the other had to bring a Mountain Dew to pay up the day after the race. That’s another thing they had in common, their love of Mountain Dew! Kerry always took the time to listen to Chad’s stories and understand his speech as it became more difficult for him to talk. He led him up and down the steps of the bus and to the house for as long as Chad could manage to walk. The last six months, he’d come early to push the wheelchair down the ramp and onto the lift of the bus, doing the same in reverse each afternoon. He laughed and joked with him the entire time, not once making him feel inferior or like he was any different than any other young man riding to work with a friend. He preserved Chad’s dignity when he was embarrassed to start using a wheelchair by not making a big deal out of it and accepting his limitations as they became more severe. For his kindness, words of encouragement, and for creating so many wonderful memories with our son, we will forever be indebted to him.
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As if all that wasn’t enough, Kerry has been working on his own project to honor his special “buddy” for the past year, and he presented it to us recently. It’s a huge 4×3 handcrafted wooden sign with the words, “NASCAR, 88, Dale Earnhardt, Jr., & Mountain Dew” on one side and “Chad Alan Dovel, 1989 – 2014” on the other with his picture above his name. (See the photos above). It’s coated in polyurethane, so it can be displayed outdoors. It’s a beautiful tribute that will add the perfect finishing touch to Chad’s Memory Garden, hanging from the arbor, right above the black and white checkered NASCAR bench with the #88 car on it. It’s obvious that a lot of love, sweat, and tears went into this amazing gift, and we will treasure it forever. Thank you, Kerry, for such a wonderful gift from the heart!

–Debbie Dovel

The OPEN ACT

Dear supporters,

There are over 7,000 rare diseases identified in the United States affecting 30,000,000 patients.  Currently, a patient with a rare disease will remain undiagnosed an average of 7.6 years and will have to see 7 to 8 different specialists.  For these patients, the journey to a diagnosis is long and arduous both financially and emotionally. For the physicians who are caring for these patients, the lack of resources and information on rare diseases, combined with the inability to network and collaborate with other physicians are some of the main barriers to a timely diagnosis and potential treatment.  Physicians need a tool that will allow them to collaborate with other physicians in real time toward finding diagnoses and improving the care and outcomes of their patients.

Batten disease is one of those rare diseases.  Children affected by juvenile Batten disease start out as healthy kids.  Around the age of 5-6, they start to lose their vision.  Over time they begin to exhibit personality changes, behavioral problems and slow learning. Seizures can begin any time during the course of disease and tend to worsen with age. Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, develop psychiatric symptoms, are bedridden, and die prematurely by their late teens or early 20s.  Our organization has invested over $14.6 million dollars in research over the last 6 years and we need help to ever reach a treatment or cure.

As advocates for the rare disease community, we have been working for over a year to get the OPEN ACT included as part of the larger 21st Century Cures initiative. Now, at the 11th hour, Congress has pulled the OPEN ACT from the most recent draft of the 21st Century Cures legislation.

Please include the OPEN ACT, HR 971 (Orphan Product Extensions Now, Accelerating Cures & Treatments) in the 21st Century Cures Legislation.

Thank you for your efforts on behalf of those affected by Batten disease,
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Mary Beth Kiser
President & CEO
Beyond Batten Disease Foundation

My Perspective: Helen Lok

Freelance Article by Helen Lok

Hope In The Horizon – Current Treatment For Batten Disease, And Upcoming Options

As anybody affected by Batten Disease knows, the condition is progressive and degenerative. Sufferers experience a loss of functioning which begins gradually and speeds up incrementally as time goes on. It’s horrific to experience, and perhaps even more horrific to watch happening to someone you love. However, one of the things which humans have proven themselves quite excellent at is perseverance in the face of seemingly insurmountable disease. A lot can be done with modern medicine to prolong the lifespan of a Batten sufferer and reduce the suffering caused by the illness. Furthermore, research is continually throwing up hopeful new lines of investigation. It is to be hoped that, one day – perhaps in the not too distant future – those with Batten Disease may be able to live far longer and more fulfilling lives than are currently available to them.

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My Prespective: Helen Lok

Freelance Article by Helen Lok

Changing Our Dialogue about Batten Disease

Every day, families across America and around the world are facing an ongoing struggle. For each individual family, that struggle will be different. But what all families have in common is that everyday life inevitably brings its own set of challenges that all of us face. Some families face a more demanding struggle, and for these individuals, that struggle will come to play a huge role in defining who they are. But how we talk about that struggle and define it is also important. We talk about Batten Disease widely within the supportive community which has come together for solidarity, but it remains relatively unknown along with other NCLs (neuronal ceroid lipofuscinoses) in the mainstream community. Yet the more we talk about Batten Disease – as well as become more self-conscious about the language we use – the more we are able to reach out to others as well as spread awareness.

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