Rare Action Network in MN

The Rare Action Network℠ (RAN) is the nation’s leading advocacy network working to improve the lives of the 30 million Americans living with a rare disease at the state level. RAN serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends; from researchers to industry; to physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s national federal policy team to help address issues of national concern.

In order to make meaningful change in the lives of rare disease patients and their families in the state of Minnesota, we need you! Become active with the Rare Action Network by joining and utilizing the resources available on this website to take action and create change.

Want to learn more about the Minnesota Rare Action Network and how you can get involved? Come out and meet your Minnesota State Ambassador at the Southdale Library from 7:00 pm to 8:30 pm! It is a great time to network with other advocates and discuss issues facing the Minnesota Rare Disease community.

Like the Minnesota Rare Action Network on Facebook: https://www.facebook.com/RANMN/

Please feel free to contact Erica Barnes (State Ambassador, Erica.Barnes@rareaction.org) or Kay Lewis (Community Outreach Liaison, Kay.Lewis@rareaction.org), with any questions.

When? Every third Thursday of the month, from 7-8:30 PM
Where? Southdale Library, 7001 York Avenue South Edina, MN 55435
Host? Erica Barnes (952) 457-6956

 

Find out more here: http://rareaction.org/resources-for-advocates/state-action-center/minnesota/

What Do Treatment Options for Children with Rare Diseases Depend On?

(First published as an insert in the USA Today published on Sept 1, 2017)

Imagine you are a prize fighter facing the toughest opponent of your life. You step into the ring only to realize you have no boxing gloves and no corner man to coach you through the fight. You have the heart but not the necessary tools.

Now imagine your opponent is a terminal illness and what you are missing is a cure and doctors able to offer you viable treatment options. This is the harsh reality for millions of American children who have been diagnosed with a rare disease.

Finding research incentives

The National Institute of Health estimates that there are roughly 7,000 rare diseases affecting 25-30 million Americans. Only about 500 of these diseases have any sort of treatment option and rare diseases disproportionately affect children. Only 30 percent of these children will live to their fifth birthday.

In 1983 Congress passed the Orphan Drug Act. This landmark piece of legislation provided a set of incentives that encouraged the pharmaceutical industry to consider rare disease drug development as a profitable business prospect and thereby increased interest in rare diseases in the private sector. Less attention, however, has been given to the creation of public institutions that support research crucial to medical advancement in genetics, which would greatly benefit the rare disease community.

The formation of a number of departments within the National Institute of Health such as the Office of Rare Disease Research and the Office of Rare Disease Research at National Center for Advancing Translational Science are hubs of cutting-edge research that provide the essential knowledge advancements. The pharmaceutical industry then uses these advances to develop life-saving drugs for rare diseases. Rare disease treatments depend on these public-private partnerships. Without this synergy millions of children with rare diseases would be completely excluded from opportunities for medical advancement available to children with more common diseases.

Children need our help

As Americans, we operate under the assumption that society owes each child born into this world a certain set of opportunities and protections. We fund public education because all children deserve an education. We fund federal departments that prevent child exploitation because all children deserve protection. Let us continue our commitment to each child born into this country by agreeing that every child deserves a treatment option no matter how rare the disease. Let’s find 7,000 more boxing gloves because every child deserves the chance to fight.

Medicaid Is A Lifeline For Children With Rare Diseases

As America’s lawmakers debate various ways to fix our broken health care system, we in the rare disease community are alarmed by proposed cuts to Medicaid funding. The term “rare disease” is a bit paradoxical. When viewed individually, a particular disease may affect a minuscule portion of the population. But when considered as a whole, roughly 1 in 10 Americans live with a rare disorder. For some the rare disease is progressive and eventually fatal, as in the case of those of us parents who have watched our children develop typically before the onset of a neurodegenerative disease slowly robs them of their function and eventually their lives. For others, the disorder is manageable with diet modifications, scrupulous monitoring by medical specialists, or changes to our environments that allow us to work and function in society.

Nearly all of us have lived through the frustrating experience of the “diagnostic odyssey.” The diagnostic odyssey is a term used to describe the journey through the medical system a rare disease patient makes in order to receive a diagnosis. The average rare disease patient often waits months to years for a diagnosis and is misdiagnosed multiple times. The financial devastation for a patient on this journey is often extraordinary and the prolonged time spent searching for a diagnosis has a negative impact on an individual’s ability to stay employed and maintain insurance coverage. At the end of this odyssey, the relief of finally getting an answer is quickly replaced by the painful fact that only about 300 of the 7,000 rare diseases have any sort of an effective treatment.

Because society has not found cures or effective treatments for even 5% of rare diseases, our community depends on social safety nets for our survival. While many Americans think of Medicaid as primarily a program for low-income families, Medicaid is also a lifeline for the disabled community made up of people who face a lifetime of chronic illness. For those of us with impaired children and full time jobs, Medicaid subsidizes our private insurance with specialized care so that we can go to work and remain taxpayers. Medicaid is the difference between putting our children in a nursing home (a far more expensive option in the long run) or having them home with their siblings and parents. For working adults with a rare condition, Medicaid is the assurance that if our disease increases in severity ­– as it does at unpredictable times – we won’t go without vital medical care between losing one job and finding another. Medicaid is the knowledge for those of us who are caregivers for our disabled adult children that when we can longer work and provide private insurance coverage our children will still be cared for.

Our rare disease community is vast and diverse. Rare diseases do not discriminate between race, socioeconomic status, or geographical region. We hear people casually repeat caricatures of Medicaid recipients and we wince at the oversimplifications. When we listen to the debates raging around us regarding the future of Medicaid we simply ask you to look past the stereotypes and consider the very real consequences Medicaid cuts will have on real people in your community living with rare diseases.

What makes a disease rare?

Chloe’s Fight Rare Disease Foundation envisions a world where research gives every child a chance to fight, no matter how rare their disease; a world in which every childhood disease has a viable and effective treatment.

Our Mission

The mission of Chloe’s Fight Rare Disease Foundation is to support research that focuses on finding and implementing effective cures and treatments for rare childhood genetic diseases and raise awareness for the 7,000 rare diseases that affect 1 in 10 Minnesotans.

Our Values

Access/Equity for affected populations: Many children suffer from diseases that have potential cures but are not receiving adequate funding for further research. We are driven to provide each child with the chance to fight by targeting rare disease research.

Fiscal responsibility/efficiency for our donors: Chloe’s Fight Rare Disease Foundation understands that our contributors make a choice to give to us, many times sacrificially. Contributions are a sacred trust. We are committed to using all funds intentionally and with the purpose of furthering our vision for a world where each rare disease has a treatment.

Transparency for contributors and supporters: Chloe’s Fight Rare Disease Foundation understands that without our faithful supporters we cannot accomplish our mission. We strive to honor each contribution by communicating clearly with donors where their dollars are going and how that money will further the vision to provide each child with a treatment option.

Our Founders

 EricaBarnes thumbnailErica Barnes, co-founder and chairman of the board of directors
Erica and Philip founded CFRDF in honor of their late daughter Chloe Sophia Barnes (July 12, 2008-November 19, 2010). In addition to promoting rare disease research, she is employed as a speech-language pathologist in both the medical and educational setting. She is also mother to Eva (age 10 going on 14)and Cade, 24 months. Her interests include traveling, reading, writing, eating good food, and gardening. She also blogs for the Huffington Post and writes fiction. She is Chloe’s Fight tireless champion and has recently become the Minnesota Ambassador for the National Organization of Rare Disease.

PhilipBarnes_portrait_thumbnailPhilip Barnes, co-founder
Philip and Erica founded CFRDF in honor of their late daughter Chloe Sophia Barnes (July 12, 2008-November 19, 2010). Philip is a wealth management business architect at US Bank. He has recently completed a Master in Business Administration at the University of St Thomas, specializing in digital marketing and leadership. Being a dual citizen and the United States and France, he is an active member of the Alliance Francaise, serving on the executive board. Philip enjoys making and consuming good food, traveling, and anything that gets him out of doors.

 

 

Board Members

Bettina Hanna
Bettina Hanna leads Hanna XP Consulting, a marketing consultancy focused on growing companies by creating happy customers. Whether she’s working with start-ups, non-profits or Fortune 50 companies, Bettina has developed ideas that deliver results.
Her passion lies in understanding people: who they are, their wants and needs. She translates those insights into business building ideas. Bettina’s experience includes 12 years in marketing leadership roles at Best Buy, and senior leadership roles at consulting firms and advertising agencies, working with companies including McDonald’s, General Mills and SC Johnson. You could say that Bettina joined Chloe’s Fight before it was even created…when she became Godmother to Chloe on August 15, 2010. Along with her husband Sam, and sons Lucas and Marcus, Bettina has supported the foundation in a variety of ways, officially joining the board in 2016.

Andrew Babula
Andrew has a unique professional profile which combines formal business training and management consulting with corporate and commercial real estate strategy. Andrew’s experience includes organizational effectiveness, process improvement, planning and strategy, and real estate development. Andrew currently is an SVP of Consulting with JLL, a real estate advisory firm. Prior to JLL, Andrew founded Varro Real Estate, a real estate consulting firm. He also led portfolio planning at UnitedHealth Group and corporate and retail real estate strategy at Target Corporation. Andrew spent three years in management consulting at McKinsey & Company, where he refined his structured problem solving skills and strategic communication. He earned an MBA from Yale School of Management with a focus on real estate and strategy. Andrew also has a BS in Electrical Engineering from Loyola Marymount University and is Six Sigma Green Belt certified. As a board member of Chloe’s Fight, Andrew helps guide the organization’s vision and strategy. He lives in Hopkins, MN with his wife and three children. Andrew enjoys travel, home improvement projects, reading, and spending time with family and friends.

Twila Dang
Twila Dang is a married mother of three school age children. She is a graduate of Hamline University where she received a Bachelor of Arts in Psychology and Sociology.  Twila is the Executive Producer and radio host for Sunday programming on myTalk 107.1. Twila is also a parenting contributor to Twin Cities Live on KSTP Channel 5.

Dr. Lorentz
Dr. Romain Lorentz was born in Orléans, France, and raised in a nearby village. He studied law both at the Université d’Orléans, where he earned his Maîtrise (J.D.), and at the Université Panthéon-Sorbone/Assas in Paris , where he completed a DEA (LL.M.) and a doctorate in Comparative Law (LL.D./JSD). He taught American Law in Paris for 2 years and at the University of St Thomas Opus College of Business for nearly 10 years. He now works for Thomson Reuters as a Legal Research Specialist. In addition, Romain served on the Board of Directors of the Alliance Française for over 6 years and he has been serving on the French American School of Minneapolis School Council for 4 years. While doing research in Minneapolis, he met his wife, Cory, at a French conversation group in 2000. Their daughter, Chloé, 10, has been friends with Eva ever since they were 18 months old. Both families’ friendship has been lasting for 10 years.Romain has been supporting the Foundation for a few years in various ways (his breakout performance was playing the leading role in the 2012 5K Coffee Strroll promotional video) before officially joining the Board in 2016.

 

Medical Advisory Board

Dr. Buss
Dr. Buss is a board certified orthopaedic surgeon specializing in disorders of the shoulder and elbow. He is the founder of Sports & Orthopaedic Specialists. His past academic affiliations with the University of Minnesota include Associate Professor in the Department of Orthopaedics, Associate Professor in the Department of Family Medicine, and Director of Shoulder Services for the Department of Orthopaedics.

Dr. Buss earned his Doctor of Medicine from the University of Minnesota in 1983. After completing his residency at the Hospital for Special Surgery (a prestigious specialty hospital) through Cornell University Medical Center in New York City, he sought additional training through a Fellowship program in the areas of shoulder and sports medicine. He is certified by the American Board of Orthopaedic Surgeons, and is a member of the American Academy of Orthopaedic Surgeons. Other academic affiliations include membership in the American Shoulder and Elbow Society, the Association of Bone and Joint Surgeons, and the American Orthopaedic Society for Sports Medicine.

Dr. Buss served as team physician for the Minnesota Twins from 1990 – 2012. He is an orthopaedic consultant to the University of Minnesota varsity athletes, Macalester College and Northshore Gymnastics. He was the medical director for the 1991 U.S. National Figure Skating and the 1998 World’s Figure Skating Championships.

Dr. Buss is the author of numerous papers and book chapters. He lectures nationally and internationally and has taught a variety of medical courses. His expertise includes topics such as open and arthroscopic shoulder surgery, impingement syndrome, the evaluation and management of elbow pain as well as shoulder problems in sports medicine, total shoulder replacement, acromioplasty techniques and the clinical presentation and surgical treatment of supraglenoid cysts.

His research can be found in such publications as the Journal of Bone and Joint Surgery, the American Journal of Sports Medicine, and the Journal of Shoulder and Elbow Surgery, and various academic textbooks. He is also a professional consultant reviewer for the American Journal of Sports Medicine and the Journal of Shoulder and Elbow Surgery.

Dr. Buss has practiced medicine in the Twin Cities since 1989 and founded Sports & Orthopaedic Specialists in 1999.

Dr. Ramaiah Muthyala
Dr. Ramaiah Muthyala holds Ph.D (Natural Products), Ph.D. (Heterocyclic Chemistry) and MBA (International Management). He is Fellow of Royal Society of Chemistry. Among other awards, he received SC Amita award from the Indian Chemical Society. He has been editor or and coeditor of books, book chapters and has been in editorial boards of ARKIVOC, Mini-reviews in Medicinal Chemistry. For the last 12 years, Dr. Muthyala has been at the University of Minnesota where he was Associate Director, Center for Drug Design, and Associate Director (pre-clinical development) Center for Orphan Drug Research. He is also Associate Professor, Department of Experimental Clinical Pharmacology and Adjunct Professor, Department of Medicine. His research interests focused in rare diseases – the discovery and development of therapeutics for drug resistant bacterial infections, neurological diseases such as SCA1 and hemoglobinopathy such sickle cell disease. In his research, drug repositioning takes major emphasis to discovering drug leads.

 

President Trump, in honor of Rare Disease Day recognize the international medical community

February 28th is internationally recognized as Rare Disease Day. My daughter, Chloe, was diagnosed with a rare and terminal disease at the age of two in a miraculously short time due to the brilliance of her neurologist. The neurologist was Canadian. Chloe’s only hope of survival was a bone marrow transplant, a risky and arduous procedure. We put our youngest child’s life in the hands of a capable and caring surgeon at the Mayo Clinic. She was Pakistani. Throughout the transplant there were long days of agony and fear as we awaited the outcome. Since her immune system was completely gone, neither she nor I could leave our tiny ICU room. The resident on the medical team brought me a Starbucks coffee each morning. He was Egyptian. When it became clear that Chloe’s chances for survival were non-existent, we met with the team to decide whether to try a risky and painful second transplant or let her go. I shared with the doctors that I believed deeply in medicine but also that, at the end of the day, my Christian faith informed me that it is God who decides how many days we have on this earth. I sensed that my decision resonated deeply with my Pakistani doctor’s faith as well. She was a Muslim.

After Chloe passed away, my husband and I decided that we would dedicate our lives to finding a cure to the disease that took her in such a horrific way. We have formed deep and meaningful relationships with two amazing researchers in whom we have the utmost confidence. One is Czech. Our medical advisory board is made up of three men we have met on our journey who are volunteering their time and energy with no compensation other than helping grieving parents realize their dream of finding a cure for metachromatic leukodystrophy. Two of the three are immigrants. One is a green card holder. At a recent Christmas party I bumped into a colleague of our Czech researcher. We chatted about the exciting research at the University of Minnesota and its potential to save lives. He was Syrian.

In thinking through the list of medical professionals I have met throughout my experiences with rare diseases I am struck with the truly international nature of medicine and I worry about the impact that the Trump administration’s recent travel ban could have on scientific collaboration. President Trump continues to craft policies that restrict the flow of foreigners to the United States. In addition to severely hindering the influx of researchers and medical professionals from the seven banned countries, his sweeping approach to immigration has the potential to discourage physicians from other countries such as India and Pakistan from pursuing medical careers in the United states discourage physicians from other countries such as India and Pakistan from pursuing medical careers in the United States. The Mayo Clinic alone employs eighty medical staff, physicians, or scholars with ties to the seven restricted countries and these individuals could face logistical nightmares should they seek to travel outside the United States. Medical conferences are held around the world and the ability to come in and out of the United States is of critical importance to researchers’ ability to collaborate on vital medical discoveries.

The image of immigrants evoked by the current administration is often one of free loaders and criminals here to take our jobs or worse. Trump’s protectionist policies benefit from the public’s perception that immigrants are low education, low wage drains on our economy. But the American medical community employs a significant number of immigrants. Often these physicians work in rural communities where there are already doctor shortages. According to the American Medical Association, one in every four physicians practicing in the United States is foreign born with a high percentage being from Muslim majority Pakistan. The consequences of a reduction in doctor supply from Pakistan and other countries that perceive the United States no longer welcomes foreigners would be very serious.

A large number of people reading this post will face a medical crisis at one point or another. I will tell you from experience that in that moment of life and death you will not care if the first (or middle) name of your doctor is “Hussein”. You will not be interested in an extended theological discussion about Islam. You will want the very best physician who will care for you with knowledge and compassion. Today in honor of Rare Disease Day I challenge the administration’s image of the foreigner. Today I remind every American that a large number of America’s immigrants wear white lab coats and have stethoscopes hanging around their necks.

Chloe’s Cupcake

February is a month that brings to mind sweets, so it is fitting that Amy’s Cupcake Shoppe in Hopkins is partnering with Chloe’s Fight Rare Disease Foundation throughout the month of February to raise awareness and funds for rare diseases. Read & watch the Kare11 coverage of Chloe’s Cupcake.

 

The “Chloe Cupcake” was designed by Amy after she heard the story of 2-year-old Chloe who lost her life to the rare neurodegenerative disease metachromatic leukodystrophy (MLD). In 2013 Erica and Philip Barnes started Chloe’s Fight Rare Disease Foundation with the mission of raising funds for research into lysosomal storage diseases as well as awareness for the over 7,000 rare diseases that affect 1 in 10 Minnesotans.

February 28th is Rare Disease Day, so Amy will make the cupcake available in her store from Feb. 1 through 28th. A portion of the proceeds will go to research at the University of Minnesota focused on rare diseases.

To find out more about Chloe’s Fight visit www.chloesfight.org or email info@chloesfight.org. Amy’s Cupcake Shoppe is located on 7th Ave and Main Street in downtown Hopkins. For hours of operations visit  www.amyscupcakeshoppe.com

Prince Deserves to Be Remembered as More Than Just a Rock Icon

Driving home from work last week it was surreal to listen to local news coverage of the live press conference in Chanhassen, MN, knowing that the whole world was tuning in to my home town. Local law enforcement was addressing the public outside of Paisley Park, home of the rock legend Prince who, of course, had just died. The grief for us Minnesotans is unique and multilayered because Prince, while being an intensely private man, was also deeply embedded in his Minneapolis community and its suburbs where he was born and raised. After the renovation of the Minneapolis fixture the Uptown Theater, a local movie critic mentioned in passing that Prince occasionally slipped in to watch a film. (It became my habit after that to scan the audience to see if he and I had the same cinematic taste.) He had his own private table at the Dakota Jazz Club downtown. Some of my friends live a few doors down from one of his rental properties. I had even heard that he would once in a while do some door to door evangelizing for his small church located in St. Louis Park just minutes from my own home.

But nothing has made Prince’s humanity more real to me personally than my recent discovery that Prince and then-wife Mayte Garcia lost a child to a rare and incurable disease in 1996. Prince was virtually silent on the subject, but I read Matye’s words with complete understanding as she talked of how the death of their son, Boy, contributed to the collapse of her marriage. “I believe a child dying between a couple either makes you stronger or it doesn’t. For me, it was very, very hard to move forward and for us as a couple I think it probably broke us.” When my own daughter died I walked the same path. My husband and I were lucky. We made it. But there were ugly, ugly moments, Mayte. And we didn’t have the pressures of fame and public scrutiny that you and Prince had to shoulder.

The tributes to Prince are numerous and I have smiled at some of the wittier recollections of people like Liz Meriwether who had the privilege of working directly with him on an episode of New Girl. But these pieces, as lovely as they are, also remind me that fame is isolating. My own personal journey taught me that grief is isolating and Prince had to deal with both. I don’t know how much of Prince’s personal loss contributed to his need for privacy, but I feel a deep sadness thinking that perhaps his fame made it that much harder for him to grieve for the loss of his child. I wonder if all of the hype and idolizing of him obscured the fact to his associates that at end of the day each and every one of us have this in common; we all suffer.

I also don’t know anything about how Prince grieved. It never occurred to me to expect a Prince sighting in the Minneapolis cemetery where my own daughter is buried. I don’t know when he finally got the courage to take down the swing set in the yard one of his backup dancers said he put up in anticipation of the birth of his child. I don’t know if he could bear to eventually change the play room he showed Oprah into a room with a functional purpose. I don’t know if he ever wondered on Boy’s birthday what life would have been like if he had lived. I don’t know any of these things, but I hope that he found some way to be a parent to his child or at the very least hold Boy’s memory in a sacred place inside him.

Prince’s fans are mourning the loss of a rock icon and a musical genius and, of course, he was these things. But I mourn for him as something far more elemental. I mourn for him as a husband who tried to hold his marriage together in the face of unimaginable loss. I mourn for him as a father who had to do the unthinkable and bury his own son. Rest in peace together, Prince and Boy.

February 29th is Rare Disease Day: 4 Reasons You Should Care

Before my daughter passed away from a rare disease I had never heard of “Rare Disease Day” and knew next to nothing about the impact rare disorders have on society. Over the past few years I have learned that rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public.

A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time. The last day in February is an internationally recognized day set aside to raise awareness of the impact that rare diseases have on society. Here is what you need to know:

1. Rare diseases aren’t actually that rare.
While each individual rare disease affects only a small percentage of the population, there are over 7,000 rare diseases. When combined, they collectively affect 10% of the general population or 30 million people. Of these 30 million people, roughly half are children and 4.5 million of them won’t live to the age of five.

2. Of the 7,000 rare diseases only 4% have an effective treatment.
When my own daughter was finally diagnosed with a rare genetic disorder known as metachromatic leukodystrophy I momentarily felt a sense of relief. The agony of watching helplessly as her health declined and visiting expert after expert who all seemed baffled by her condition appeared to be at an end. Until the neurologist’s next piece of information. The disease is terminal. And there is no cure. While our family was “lucky” to have at least had a treatment option for slowing down the disease progression, there is little to nothing the medical community can do for the vast majority of children diagnosed with a rare disorder.

3. Rare disease research faces practical challenges that, if solved, could shift thinking for how medical research is conducted in the industry as a whole.
There are a number of barriers inherent to researching rare disorders. Patients are often scattered over a large demographic and even finding an adequate number people affected by a particular disease to conduct a well-designed clinical trial can be challenging. Additionally, medical literature describing key characteristics of a particular disease are scarce or non-existent, making it difficult for experts to build on previous knowledge. The current, traditional model of research and drug development that conceives of research results as intellectual property and sets up competition among researchers is unrealistic with such small patient populations. In order to overcome this barrier, some rare disease experts are leading advocates for revolutionary new research models that are more collaborative and open-sourced. This shift in philosophy to sharing vital research results more openly will benefit drug discovery as a whole by potentially reducing the costs and inefficiencies associated with replicating research in drug development.

4. Researching rare genetic disorders will increase the chance of finding cures for more common diseases. 
Many rare diseases of a genetic nature are “single gene disorders”(the result of just one faulty gene). By contrast, many common diseases are polygenic (the result of the interaction of several different genes) and multi-factoral (in part due to many factors such as life-style and environment). The ability to isolate the single cause of a rare disease simplifies the research process since there are fewer variables to consider. Diseases such as Alzheimer’s and multiple sclerosis whose symptoms don’t show up until adulthood must be studied taking into account the many factors that have influenced the disease process over the course of an individual’s lifetime and may benefit from the information that could be learned from similar degenerative rare diseases.

Until the last couple of decades rare diseases were truly neglected in the medical community and by society in general, even earning them the nickname “orphan diseases”. Fortunately, through a combination of legislation and advocacy, more people are beginning to understand why everyone should care about Rare Disease Day.

Thank You!

Thank you for your order of the Rare Disease Day buttons. We will do our best to get them to you promptly so you can wear them proudly with your “Rare Wear” on February 29th. We hope you can join us with your Rare Wear at Insight Brewing that evening for a Rare Disease Day Happy Hour.