The RUN Advisory Board Mission
Raise awareness for families with children afflicted with undiagnosed or rare diagnosed conditions. Urge insurance companies to reimburse genome sequencing in clinical settings. Network with researchers, insurance providers, and industry stakeholders to meet these families’ needs.
Aware of Angels Non-Profit organization
Photographer at Season Atwater Photography
Season Atwater is a Utah based photographer and founder of the nonprofit organization Aware of Angels. Season has been practicing photography for the last 10 years and her vision changed 2 years ago when her daughter was diagnosed with a rare genetic disorder. As a passionate parent advocate with a desire to raise awareness not only for her daughter’s syndrome, but also for others in a similar situation, she launched Aware of Angels in March of 2014. The Aware of Angels organization generates funding to provide genetic testing, research and awareness for children (Angels) with rare, genetic and undiagnosed disorders. In 2014, Season was able to assist 9 complete families, including 12 Angels, to receive whole exome testing. Using her photography skills, Season donated 29 photo sessions to children with genetic & undiagnosed disorders. Images from these sessions are used in her Global Awareness Platform-The Aware of Angels Photography Project. Getting to know these children, and their families has been a highlight in her photography career. The purpose of the Aware of Angels Photography Project is to capture the beauty & personality of each Angel including their diagnosis, to raise awareness on a global level. Using photography to raise awareness for these children, Season has reached thousands of people with her images. Season serves as RUN’s Photography Chair and RUN’s Rare Teen Project Co-chair. awareofangels.org
Angelia’s passion for helping others began in second grade when she had the opportunity to be a peer tutor. Since then she has spent countless hours in public schools, assisting with anything from math and reading to physical and occupational therapy. She has been working with Aware of Angels since it was founded in 2014. In 2015 Angelia was crowned Miss Iron County and began a year of service dedicated to raising awareness for the Rare and Undiagnosed Community. Through that opportunity she has also worked closely with the Associate Director of State Policy at NORD. She loves using social media to advocate for the Rare Community because she can like, share, and post as much as she wants – and she does. Angelia will be marrying her high school sweetheart in July 2016 and will move to Salt Lake where her husband will be playing his last year of football at the University of Utah. The friendships made and experiences gained from becoming a part of the Rare family are priceless and Angelia plans to continue this work throughout her life. Angel serves on the RUN Advisory Board.
Carrie Bramlee is the mother of five children, ranging from ages 14 to 4. Prior to motherhood, Carrie obtained a degree in Exercise Science from Marshall University and worked as a personal trainer. Carrie later decided to go back to school to earn a second degree in Elementary Education at West Virginia State University. For the last 14 years, she has been caring for and teaching her children at home, while supporting her husband through medical school. All five children have varying levels of illnesses that have required research to get answers. The youngest, Cohen, has conditions that are most severe and undiagnosed. Carrie is still searching for answers for her little super hero.
Hayley is the Program Lead for The Broad Institute’s Rare Disease Genomics Program. She manages general operations for the the Broad Center for Mendelian Genomics (https://cmg.broadinstitute.org/) and is leading the Rare Genomes Project (raregenomes.org), a family-centered research study focused on diagnosing families with rare genetic conditions. Her favorite part of her job is meeting the incredible rare families who make research into these conditions possible – if you’d like to connect with Hayley directly, please reach out to her at [email protected].
The Foundation for Atypical HUS
Anne Bruns is a patient advocate for The Foundation for Atypical HUS and the rare disease community as a whole. Her son, Ethan, was diagnosed with this life threatening disease in January 2013 at the age of eight. Empowered by her son’s strength and positive attitude, she speaks around the country at rare disease events to inspire families affected by rare diseases. She believes communication and coordination with physicians, schools and caregivers is necessary to create a game plan for your child and helps parents find the tools to create the perfect team for managing a rare disease. Anne serves as the RUN Outreach and Fundraising Chair. She graduated with a Bachelor of Arts in English from Weber State University in Ogden, Utah and currently works as a pediatric care assistant in the Neuro Trauma Unit of Primary Children’s Hospital.
Amy Clugston and her husband became parents to a special little girl in July of 1996. Her daughter Lorna was born with some physical and developmental challenges that when put together are suggestive of a syndrome; however, a diagnosis for her collection of signs and symptoms remained unknown until 2014 when a change in one of her DYRK1A genes was discovered. This would start her journey of being a “stay at home mom” for 14 years. She added two other children into her family, a son Jadon in 2000 and a daughter Cloey in 2004. She is currently working in the office of her husband’s business, JLC Underground. In the mix of attending doctor’s appointments, therapy sessions, being a mom and a wife, Amy went on to found Syndromes Without A Name (SWAN) USA. She initially started out by supporting families through an e-support group and a simple website in 2001 and progressing to becoming a non-profit tax-exempt organization in 2006. The organization is now reaching many families throughout the country and even reaching families around the world. undiagnosed-usa.org
Syndromes Without A Name (SWAN USA)
Holly Ferrin, CAO
Executive Director and CAO of the Epilepsy Association of Utah
Chairperson of the Committee for Accessible Transportation at Utah Transit Authority
Holly Ferrin has 11 years of combined work and service in the ADA community. She is the first Executive Director in the Association’s 42-year history to have epilepsy herself. Her drive to do what she does comes from the reality of social stigmas towards those with disabilities and, more importantly, seeing those who are disadvantaged succeed. Her motto centers around not only the concept of, but also the act of encouraging advocacy and independence. Holly has held various directorship, leadership and volunteer positions. She excels in networking and public speaking. She is also proficient in assessment of business needs and accommodations in customer service. Holly is always thorough in all projects, goals and organizational mission(s). Holly serves as the RUN’s Epilepsy Chair. www.epilepsyut.org
As a rare disease patient and stroke survivor, Stephanie Fischer is passionate about rare disease advocacy. She served as Chief Patient Engagement and Communications Officer at the EveryLife Foundation for Rare Diseases, a nonprofit dedicated to accelerating innovation for rare disease treatments through science-driven public policy, until leaving to pursue other opportunities in February 2018.
Prior to joining the Foundation, Stephanie spent more than 10 years focused on health policy communication at the Biotechnology Innovation Organization (BIO) and Pharmaceutical Research and Manufacturers of America (PhRMA). She previously worked for U.S. Representative Jim Greenwood (PA-8) for nine years until his retirement in 2004. Stephanie has a Bachelor of Arts in Government from Cornell University and resides in Bucks County, Pennsylvania. You can find her on Twitter as @RarePOV
Julia Fisher is the mother to three beautiful children: a sweet 4-year-old Maia who buzzes like a bee; an angel Maks who was stillborn from unknown causes, and another angel affectionately known as Luka The Lion. Luka fought bravely like a lion his whole life with a rare, undiagosed primary immunodeficiency disease thought to be unique to him and subsequent complications from a bone marrow transplant. As a former special education teacher, policy analyst, and grant writer, Julia is hopeful she can share her experiences with others to raise awareness about rare and undiagnosed diseases, newborn screening, and the importance of blood and bone marrow donation. Julia writes for resiliency on these topics and is a featured author on The Mighty. To honor Luka’s spirit and support kids with rare disease and their family so nobody ever feels alone, Julia founded the LukaThe Lion Foundation with her husband, Zach Fisher, a dedicated team of Board of Directors, and The Pride of supporters. Through her efforts in the rare and undiagnosed disease community, Julia is honored to serve on the Rare & Undiagnosed Network (RUN) Advisory Board, Global Genes RARE Foundation Alliance, and the NC Rare Disease Coalition.
Josh Forsythe is the Vice President of Marketing at Tute Genomics. He has over a decade of executive leadership experience in commercializing software technology in the fields of genetics and genomics. He previously served as Vice President of Sales and Marketing and Knome, Inc. and Vice President of Business Development and Marketing at Golden Helix, Inc. Josh has a BS in Business Marketing from Montana State University. Josh serves as RUN’s Undiagnosed Chair. https://tutegenomics.com/about/josh-forsythe
Jenny N. Frisk
Jenny Frisk is a young wife and mother of 3 beautiful children. All three of the children have a rare disease along with other health problems that they each face individually. Jenny has spent the last 10 years researching, advocating and fighting for her children’s health while dealing with serious health problems of her own. She is a member of RUN, and also of the Eosinophilic Family Support Network, the C.U.R.E.D. Organization and has testified before the Utah Legislature. Jenny is passionately committed to ensuring that her children along with other children and their families receive the love, support and critical resources they so badly need and deserve to fight and win against all odds. (Eosinophilic pronunciation: E – O – sin – O – Phil – ic )
Christopher Gibson, Ph.D.
co-Founder and CEO
Chris is the co-founder and CEO of Recursion Pharmaceuticals, a drug discovery company which he spun-out of the University of Utah in 2013. Chris has undergraduate degrees in Bioengineering and Business from Rice University. Prior to forming Recursion, Chris was enrolled in the MD/PhD program at the University of Utah. After completion of the Ph.D. training in Bioengineering, he took an indeterminate leave of absence from completion of medical school to build Recursion into a cutting-edge discoverer of new ways to treat genetic diseases. Recursion combines experimental biology and bioinformatics to evaluate millions of potential new uses for known drugs in the rare disease space. recursionpharma.com
Karen S. Ho, Ph.D.
Chief Scientific Officer, NGLY1.org
Genetic Research Scientist, Lineagen, Inc.
Karen’s commitment to rare and undiagnosed disorders begins with a boy named Bertrand. She first met Bertrand Thomas Might when he was 17 months old, four years before he became the first individual to be diagnosed with NGLY1 Deficiency Disorder. Bertrand’s charming ways, his relentlessly happy personality in the face of serious health challenges, and his remarkable parents (her dear friends), inspired her to work to help individuals faced with rare disorders not only to achieve a diagnosis, but also to pursue precision medicine research and treatments for their conditions.Karen is a Marshall Scholar, and holds an M.Sc. degree in Genetics from Cambridge University and a Ph.D. in Developmental Biology from Stanford University. She completed her postdoctoral training as both an HHMI Postdoctoral Fellow and National Sleep Foundation Fellow at the University of Pennsylvania in the Department of Neuroscience. She has co-authored a number of peer-reviewed articles in both basic science as well as human genetics. She serves as Chief Scientific Officer for NGLY1.org, working to eliminate the challenges of NGLY1 Deficiency through research, awareness and support. She also works as a Genetic Research Scientist at Lineagen, Inc., where she does clinical research to aid in the genetic evaluation and medical management of neurodevelopmental disorders in children. NGLY1.org
Howard Jacob received his PhD in pharmacology from the University of Iowa in 1989. He completed parallel postdoctoral fellowships in functional genomics and molecular genetics and genomics at Harvard, Stanford and MIT in 1992. He was on the faculty at Massachusetts General Hospital and Harvard Medical School from 1992 to 1996 before moving to the Medical College of Wisconsin (MCW) in Milwaukee in 1996. Jacob was the founding director of the Human and Molecular Genetics Center as well as the Warren P. Knowles Chair of Genetics and a professor in the departments of physiology and pediatrics at MCW for nearly 20 years. He joined the HudsonAlpha Institute for Biotechnology in 2015 as Executive Vice President for Genomic Medicine. Jacob uses molecular genetics and genomic sequencing to diagnosis and learn about disease. His passion for improving the lives of critically ill patients has been the catalyst for his determination to bring whole genome sequencing into a clinical setting. www.hudsonalpha.org
Christian is a board member of The FH Foundation and patient advocate for Global Genes. He was diagnosed with Homozygous Familial Hypercholesterolemia when he was two years old, a rare genetic disease affecting as few as one in a million people in the United States.
A year after graduating high school he was diagnosed with severe heart disease. He had four blockages in his heart and all the blockages where over 75%. It was at this time Christian chose to stand up and get the word out about this disease. He was put in contact with a few Pharmaceutical companies as well as other people with his disease and he started sharing his story at different events all over the world. Christian was asked to be a board member of The FH Foundation based in Pasadena, California. Through the foundation, he has been given amazing opportunities to work very close with and share his story at major universities, high schools, organizations, local/national events, news organizations, radios stations and many other places across the country. Even with all the amazing opportunities that he has been given, the disease is very real and it always will be. Just a few months ago he had his seventh stent placed in his heart because of a 90% blockage and he’s only 25 years old. This doesn’t slow him down though, as long as he has been given another day on this earth he will continue to do his part in raising awareness for those with HoFH and all rare diseases. Christian’s is a published author and a nursing student in Columbus, Ohio.
Ricki Nicole Jenson
Ricki Jenson is your typical teenage girl who loves her family, friends, school, ballroom dance and anything sparkly. In 2013, Ricki’s typical teenage life changed dramatically when she began having headaches and seizures. This led to her diagnosis of an aggressive form of NF2, a disorder characterized by the growth of noncancerous tumors throughout the nervous system. Since her diagnosis, Ricki has had 2 brain surgeries, lost the hearing in one ear, one of her vocal cords became paralyzed, 2 tumors were removed from her face, and she has had surgery to remove 2 tumors from her spinal cord. Currently, she suffers from seizures, migraines and chronic pain caused from a brachial plexus tumor. There are no treatments other than surgery available, yet we have hope that someday there will be research done to find better treatments and even a cure for NF2. www.rareundiagnosed.org/Ricki
Betsy Kanarowski, PhD, LCSW
Betsy Kanarowski is a clinical social worker and has a doctorate in special education. She has extensive experience providing therapeutic and social work services to families with children who have both acute and chronic health conditions. Betsy’s teenage daughter was recently diagnosed with dysautonomia, and she is now navigating the challenging medical, educational, and social journey as a parent, instead of as a professional provider. www.rareundiagnosed.org/Alexa
Mark Kristensen, MAED
Mark is Co-Founder/President of Angel’s Hands Foundation. Mark has a MAED in Special Education and currently teaches high school special education. Just prior to Mark’s sons death, his wife Roxann and friends, Steve and Sue Stauffer, started AHF to improve the quality of life for individuals living with rare medical conditions. What started with 10 Utah families in 2001 currently has over 500 Utah families registered with them. www.angelshands.org
C. Jimmy Lin, MD, PhD, MHS
C. Jimmy Lin, MD, PhD, MHS, is a 2012 TED Fellow and Founder & President of Rare Genomics Institute, the world’s first platform to enable any community to leverage cutting- edge biotechnology to advance understanding of any rare disease. Partnering with top medical institutions, RGI helps custom design personalized research projects for rare diseases. Dr. Lin is also the Director of Clinical Genomics at the Genetics Branch of the National Institute of Health/National Cancer Institute (NIH/NCI). Prior to this, he led the computational analysis of the first ever exome sequencing studies for any human disease at Johns Hopkins and was a research instructor at Washington University in St. Louis. He has numerous publications in Science, Nature, Cell, Nature Genetics, and Nature Biotechnology, and has been featured in Forbes, Bloomberg, Wall Street Journal, Washington Post, BBC, TIME, and the Huffington Post.
Gholson Lyon, MD, PhD
M.D., Weill Cornell Medical College, 2004
Ph.D., Rockefeller University, 2003
Biochemistry, amino-terminal acetylation of proteins, human genetics, neuropsychiatric diseases, whole genome sequencing
John Neal is the Founder of Team Krabbe Strong, a Facebook group that has changed the lives for the better for many Krabbe Leukodystrophy families. He has nearly 9,000 followers and he is friends with about 60 families worldwide, offering them any kind of support/help he can. Sometimes, it’s just a listening ear, sometimes it is helping them organize an event, sometimes it is arranging media coverage to help them get their story and this disease out there, other times it is helping them raise funds. Team Krabbe Strong has become a great outlet to spread awareness and educate people on the disease and the benefits of newborn screening. One of John’s biggest goals in to ensure no child has to suffer from this disease. The only way to do that is to pass legislation in each state that makes in mandatory for newborns to be tested as part of the state screening panel. Currently, only two states test and nine have legislation in place. His most successful venture within the community though has been creating experiences to help families escape the diagnosis, if only for a moment and let them live life as they dreamed it would be with their child. To help them create memories, and to make them smile. John serves as RUN’s Krabbe Leukodystrophy Chair. He is a Restaurant GM/Chef and plans to return to school in hopes to pursue a career focused on making a difference! His wife is a Special Education Teacher and is an active member of the krabbe community. They have a three-year old daughter, Ryleigh, and 10-month old son, Dylan.
Catrina Nelson is a strong advocate for all with rare diseases and for those with epilepsy. She is the mother to three beautiful children. In 2013, Catrina became part of the rare community when her youngest daughter, Charlee, was diagnosed with an extremely rare disease. Late Infantile Batten Disease; a rare and fatal neurodegenerative disease. In March of 2014, Charlee lost her fight at the young age of six. Her legacy lives on through Charlee’s Law, a law passed in her name just 4 days before she left this world. Catrina enjoys her career at Wells Fargo as an Administrative Assistant and has been working there for the last 19 years. She also works as a volunteer with the Epilepsy Association of Utah, as a Political Advocacy Committee Member as well as a Member at Large. Catrina is the RUN Batten Disease Outreach Chair and a RUN Rare Angel Chair. Like so many advocates, Catrina’s passion and dedication towards the cause of Rare Diseases comes from within. From the love she has for the Rare community, her family and her Charlee girl. https://www.facebook.com/charleesangelsbenefit/
Kate Nielsen is the mother of 4 wonderful children, two boys and two girls. She has an MS degree in Mathematics fromBYU. Before having children she worked for Evans and Sutherland programming flight simulators for the F14 and the Coast Guard. She was a stay at home mom for 13 years and has been teaching mathematics for the past 7 years. The last 18 months Kate has been fighting for her 16 year old daughter, Rachel. Rachel is diagnosed with EOE, EC, Gastroparesis, Orthostatic Intolerance, dysmotility, a connective tissue disorder, dysautonomia, and neurogenic bladder. Even with all these diagnoses, she is still considered undiagnosed because her doctors don’t understand what is causing her body to start shutting down. Kate has been happily married to Dale, a Chief Engineer for ATK, for 28 years. Kate is dedicated to finding a diagnosis for Rachel and to getting doctors/specialists communicating with one another for better health care. www.rareundiagnosed.org/Rachel
Rachel Nielsen is a vibrant, intelligent, happy young lady. She loves playing the piano, playing the violin, and performing in her high school musicals. She was a gymnast, power tumbler, basketball player/coach, runner, and sophomore class president before becoming ill almost two years ago. She is the youngest sister to two brothers and one sister. They are her biggest and best fan club. She has been diagnosed with EOE and EC, Gastroparesis, dysmotility, dysautonomia, and Orthostatic Intolerance just to name a few. Her doctors at the University of Utah Hospital and Children’s Hospital of Wisconsin are working together to find the correct diagnosis for her. Rachel just wants to be a normal 16 year old. Rachel serves as a RUN Rare Teen Director as well as on the RUN Advisory Board. www.rareundiagnosed.org/Rachel
Katie Nuffer loves elephants, watching Supernatural, and spending time with her friends and family. Katie was diagnosed with Multiple Hereditary Exostose (MHE) when she was two years old, and has struggled with intense pain ever since. Last year, she was also diagnosed with Fibroid Dysplasia. She has had multiple surgeries and has been to physical therapy more than a few times. Katie is loving, outgoing, and always laughing. She plans to go to nursing school after she finishes her senior year of high school. Her dream is to help kids and young adults with rare diseases in any way she can. Katie serves as the RUN MHE Chair as well as on the RUN Advisory Board.
Maureen Mack is the Vice President for Marketing and Communications at the HudsonAlpha Institute for Biotechnology, a nonprofit research institute specializing in genomics. A former award-winning journalist, she spent two decades in television news early in her career. Mack joined the Medical College of Wisconsin in December of 2010, where she worked on three Pulitzer-nominated series, and one Pulitzer-winning series. She was named director for external communications in December 2014. In August of 2015, Mack joined HudsonAlpha Institute for Biotechnology. She is a self-professed “science geek without the science degree.” In her spare time, she drives her four kids to activities, chases a toddler around, and watches shamefully bad television. www.hudsonalpha.org
Prior to her involvement in Epilepsy Awareness, Annette Maughan worked professionally as a Technology Executive with Bank of America and The Walt Disney Internet Group. She resigned from Disney to become a work-at-home Mom to her infant son and started her own Technology Firm as full time CEO. When her young son, Glenn, was almost three and her infant daughter, Taylor, was 6 months old, Glenn had his first of what would become thousands of seizures.Thus began the journey of research and diligence. After seven years, the Maughans discovered one diagnosis with several parts: Cerebral Folate Deficiency caused by a Folate Reductase Autoantibody. And two years later the possible final piece to the puzzle: KBG Syndrome. Their son, is the only known KBG patient in the world that has an insertion in his genetic code and not a deletion or duplication. Thus far, he is one unto himself with 62 close relatives. www.kdgfoundation.org
Annette Maughan, President and CEO Epilepsy Association of Utah, Founder and CEO KBG Foundation
Cristina Casanova Might
Cristina Casanova Might is the proud mother of 29 children: 3 biological and 27 with NGLY1. Her oldest son, Bertrand was the first NGLY1 patient. In September 2012, shortly after the discovery of the 2nd and 3rd patients with N-glycanase deficiency, she started NGLY1.org as a means of building the nascent NGLY1 community. Cristina is passionate about bringing technology and community together. She believes that partnership between patients, families, researchers and clinicians is essential to accelerate science—understanding, treatments and cures. She brings her background as a former tech CEO to run the day-to-day operations of NGLY1.org. Cristina is on the Board of Directors for CDG CARE and Co-chair for the Public Policy Working Group for the EveryLife Foundation. She serves as RUN’s NGLY1 Chair as well as on the Family Advisory Committee for MyGene2. Cristina holds a BS in Industrial Design and an MBA in Finance and Accounting from Georgia Tech. She blogs at overcomingmovementdisorder.com and tweets from @bertrandmight.
Dr. Matthew Might
Dr. Matthew Might is the father of the first N-Glycanase (NGLY1) deficient patient ever discovered and is now President of NGLY1.org, a foundation dedicated to tackling the disorder. Dr. Might wrote about the odyssey leading to Bertrand’s diagnosis on his personal blog, which has led to the discovery of 20 patients in a little over two years. Dr. Might is also a professor in computer science at the University of Utah, where he leads the U Combinator software systems research lab. He directs funded research projects on behalf of the Department of Defense, the National Science Foundation and the National Nuclear Security Administration. He was recognized with a CAREER award from the National Science Foundation and made a Presidential Scholar at the University of Utah in 2014. He received his Ph.D. in Computer Science from Georgia Tech in 2007. He regularly blogs at blog.might.net and tweets from @mattmight.
Becca has a B.S. in Biology and a Ph.D. in Neuroscience from the University of Utah. In addition to her past research on neural prosthetics, Becca has served as an educator and research administrator, and is active in educational outreach. She is excited to contribute to the rare disease community. Becca currently works at Recursion Pharmaceuticals as a scientist and technical writer, advancing Recursion’s vision of Making Rare Diseases History: recursionpharma.com
Mary Elizabeth Parker, PT, PhD, PCS, NCS – Medical Liaison & Co-founder
Dr. Parker graduated from Duke University in 1991 with a double major in biological psychology and physical anthropology. She completed her Master’s degree in physical therapy in 1995 at the Medical College of Virginia. She is licensed to practice Physical Therapy in Texas and Connecticut. She continues to have an active research agenda in movement disorders in autism with her colleagues in the northeast from SUNY, Sacred Heart, and Fairfield University. She has received a certificate in Advanced Pediatric Therapy from Texas Woman’s University in 2004, followed by board specialization in both pediatric and neurologic physical therapy from American Board of Physical Therapy Specialists. Her dual certification in pediatrics and neurology is unique in the profession. She is an item writer both for the national PT and PTA exams. She completed her PhD at Texas Woman’s University in physical therapy; her dissertation is in differential diagnosis. Her passion for the undiagnosed is channeled through this work and her role as medical liaison for U.R. Our Hope, a locally based, but national group that assists individuals with undiagnosed and rare disorders at any age or any stage.Dr. Parker is a clinical assistant professor of physical therapy at Texas State University. She maintains a small clinical practice through Growing Places Therapy Services in the Austin and surrounding areas. www.urourhope.org
Aliyah Peedle is 14 when she was born she weighed 3lb 10oz. She has the VCTE of the VACTERL Association.
(V) = vertebral abnormalities
(A) = anal atresia
(C) = cardiac (heart) defects
(T) = tracheal anomalies including tracheoesophageal fistula
(E) = esophageal atresia
(R) = renal (kidney) and radial abnormalities
(L) = (other) limb abnormalities
She Tested positive for Methamphetamines when she was born and was then taken from her birth mother. She was born at 31 weeks and was born with Esophageal atresia/ tracheoesophageal fistula type c, had a bleed on her brain and a hole in her heart. She has had about 75 surgeries. She has been diagnosed with GERD, Reactive airway, chronic lung disease, Tracheomalacia, Two fused ribs,Two fused vertebrae, Asthma, IGA deficiency, gastroparesis. She has a GJ Tube that she is fed through and an appendicostomy that we flush her intestinal tract and bowels out with. She gets aspiration pneumonia a lot so she misses a lot of school. She loves to bake cupcakes and give them to anyone she can. At one point, they told us to never let her eat or drink by mouth again because the stuff she could get down her esophagus would go into her lungs and the stuff that wouldn’t go into her lungs wouldn’t go down her esophagus either. We said, “How do you sit at a table as a family and tell one of your children they cannot eat? How do you not let the have their birthday cake even if it is only a couple bites.” She has a very big heart and has raised some money by baking and selling cupcakes for a family whose father had terminal brain cancer. It has not been easy to watch her face so many challenges and suffer so much, at times she will say mom I just wish I was normal. I told her everyone’s normal is different. She has defied all the odds that were stacked against her from day one. Aliyah serves on the RUN Advisory Board and is one of our RUN Rare Teen Directors. www.rareundiagnosed.org/Aliyah
Amy Sue Peedle
Amy Sue Peedle is from Tremonton, Utah. She has four daughters. Brittany is twenty-seven years old. Victoria is twenty-five years old. Deja is seventeen years old. Aliyah is fifteen years old. She has two grandblessings. Macie, four years old, and Gary, two years old. She grew up in Tremonton, Portage and Malad, Idaho. She met her husband Andrew who is from England at a local swimming pool. Amy served on the Family Advisory Council at Primary Children’s Hospital for four years. She loves spending time with her family, playing games, enjoys the beach and love to go anytime she can. She worked as a Certified nurses aid for sevens years before becoming a full-time mother and caregiver to her youngest daughter, Aliyah. Aliyah has She has the VCTE of the VACTERL Association. Amy Sue serves on the RUN Advisory Board and is the RUN VACTERL Chair. www.rareundiagnosed.org/Aliyah
Julie has four children, all married, and ten grandchildren ranging in age from three to sixteen. Her youngest Grandson passed away at the age of nine months from a Rare Genetic Disorder called Type 2 Infantile Gaucher Disease. It is one of fifty diseases that falls under Lysosomal Storage Disease. He was diagnosed at seven months with Failure to thrive, unable to swallow, no immune system and his Central Nervous System failing quickly. Julie is the 2016 Outreach Chair for Utah Rare as well as a member of the Rare and Undiagnosed Network (RUN) Advisory Board. She serves as one of the Outreach Directors for RUN, RUN’s Gaucher Disease Chair as well as a RUN Rare Angel Director. Julie has been married to her husband, Roger Potter for 38 years. Julie is a Homemaker but she loves to travel, especially with her husband, on his semi. He drives all the lower 48 states and Canada.
Rachel Petties, Mother, Patient Advocate, Oklahoma State Ambassador for NORD, Board of Directors for Lipodystrophy United, Advisory Board Member for CISCRP on Patients Accessing Clinical Trials, Moderator for RareConnect, Member/Blogger for Speak Now for Kids, Member of Disability Advocates, Rare Disease Legislative Advocate, Licensed Paralegal
I am an avid leader, self-starter and motivator. I have a strong public speaking background as well as over a decade of hands on experience with fundraising events via social media/networking as well as local in-person events. I have attended 2 years of In-District Lobby Days and marched on Capitol Hill. I am the State Lead for Rare Disease Day in my home state. I see advocating opportunities and I take advantage of every single one afforded to me. This is fight is personal for me and I take helping save lives very serious because one of those lives belong to my baby. My youngest daughter who is 2 years old suffers from a very rare metabolic disease called Congenital Generalized Lipodystrophy. Her specific mutation is (AGPAT2). This disease occurs in 1 of 10 million worldwide. I advocate for her disease and for our Rare Disease Community and am currently a member of a Patient Advisory Board for Accessing Clinical Trials. I have had the opportunity to speak at the Lipodystrophy Symposium in Ann Arbor Michigan in 2014 as well as various other events and publications featuring our life and journey with Rare. We are also featured in the documentary Run4Rare with Noah Coughlan and Luminous Pictures coming out in 2017. Our Rare journey has been published in countless articles, blogs, journals, etc., in hopes to keep the Rare fire burning bright. My objective is to spread awareness, campaign and gain legislative backing to support Rare. Our efforts are to find treatments, cures, and financial/medical assistance for those greatly in need as well as more timely diagnosis and easier access to clinical trials. I am also a Licensed Paralegal/Legal Assistant with a 10 year background in Personal Injury, Domestic, Medical Malpractice, Product Liability, Criminal and Probate/Estate. [email protected]
Dr. Shmuel Prints
Meet Dr. Shnuel Prints, an internal medicine and public health specialist with over 30 years of experience in the medical field. He is also the founder of NDC Medicine– an international startup that helps doctors diagnose patients with medical mysteries quickly, using the great power of medical crowdsourcing. Doctors worldwide are welcome to join the platform. He is originally from Yekaterinburg-City, Russia, where he graduated from Ural State Medical Academy and worked there as a physician for 10 years. 25 years ago he came to Israel with his family. Ever since, he has been working mainly in the internal disease field. He has a great interest in diagnostic tools, pulmonary diseases and rare diseases. At 2005 He Graduated his MPH in Public Health in Ben-Gurion University of the Negev. Now he is on a mission to end the diagnostic odyssey for patients worldwide with NDC Medicine, and writes a blog about it.
Yana Prints is the CMO (Chief Marketing Officer) of NDC Medicine, and Dr. Shmuel Prints’s daughter. Yana graduated her BA in Media and Management studies with honors in The College of Management Academic Studies in Israel. She was chosen to participate in the esteemed “The Leaders” Project where she did her internship in Unilever’s marketing department. However, she was fascinated by her father’s dream to help the rare ones get a diagnosis, and so they began their journey together on NDC Medicine startup. Yana is in charge of all the media & marketing aspects of NDC Medicine, like their Facebook Page and Facebook Group, interviews, and special activities to raise awareness to the rare and undiagnosed community.
Lauren Quattrochi, M.A., M.A., Ph.D.
Director of AllTrials USA at Sense About Science USA, NY
Research Scholar at Brown University, RI
Dr. Lauren Quattrochi is a neuroscientist who guides the campaign for AllTrials USA at Sense About Science, a non-profit focused on equipping the public with tools and knowhow to navigate evidence-based research. She specializes in educating the public on breakthrough science, correcting popularized pseudoscience and bringing about awareness on clinical trial transparency in the USA. She earned her doctorate from Brown University in Molecular Pharmacology and Physiology, where she discovered a novel third subtype of photoreceptor. Throughout her career, she has had a passion for science communication, teaching and outreach. In parallel to her research at Brown University, she founded and led a group for graduate women in science and engineering (GWiSE) to create network opportunities for a community for women striving in the sciences. Dr. Quattrochi has also designed and implemented diverse science courses that have been internationally recognized and awarded. She has organized scientific professional development conferences from inception to implementation and been trained in administrative leadership through the Executive Scholars Program. Before her doctorate, she earned her first Masters in 2009 from Brown University while working full-time at Pfizer Inc in pre-clinical drug discovery, excelling in areas of drug metabolism, in-silico pharmacokinetic modeling and excipient formulations. Before working at Pfizer, she performed research along the US Coast guard in oil spill culprit identification using portable Raman Spectroscopy.
Hailey had always been a natural athlete, enjoying competitive tumbling, trampoline, and track. When she was 14, Hailey underwent a ligament reconstruction surgery due to an ankle injury. Upon waking from surgery, Hailey complained of an intense headache, which has been her constant, painful companion ever since. One month later, Hailey was diagnosed with Postural Orthostatic Tachycardia Syndrome, or POTS. POTS causes her constant dizziness, brain fog, body/joint aches, skin sensitivity, and overall severe fatigue. Hailey has endured 42 days in the hospital, dozens of ER visits, and— previously a straight-A student—she is rarely able to attend school. www.rareundiagnosed.org/Hailey
Cheryl Scacheri is a Senior Clinical Genomics Manager at Courtagen Life Sciences. She is a licensed, board-certified genetic counselor. Cheryl brings diverse genomics experience to RUN, having worked in patient care, genetics research and molecular testing for over 20 years. She was GeneDx’s first genetic counselor and worked there for seven years, eventually managing a genomics education initiative that included giving dozens of formal presentations, training the sales force and internal technical experts, and growing the company’s online presence. Cheryl also worked for the world-renowned research geneticist Dr. Eric Hoffman for 5 years and was the director of the genetic counseling division at the Cleveland Clinic. Cheryl earned a master’s degree in Genetic Counseling from the University of Pittsburgh and a bachelor’s degree from Drew University in Madison, NJ. She has served on the National Society of Genetic Counselors (NSGC) board of directors and won the NSGC’s Strategic Leader Award in 2008. http://www.courtagen.com/
Dr. Robert Selliah. Ph.D
Founder, President and CEO of American MedChem Nonprofit Corporation
Dr. Selliah has more than 18 years of experience in technology, leadership, and management in drug discovery, medicinal chemistry, and preclinical development in the United States and the global pharmaceutical and biotech sector. He was most recently vice president of Medicinal Chemistry at SAI Advantium Pharma in India, where he led a group of over 200 scientists. Dr. Selliah is a co-inventor of two clinical development candidates—PRLX93936 (oncology, Prolexys) and AL12182 (glaucoma, Alcon)—and several preclinical candidates, and he contributed to the discovery and development of Travatan®, a marketed prostaglandin drug for glaucoma. He currently serves as a consultant in drug discovery, medicinal chemistry, and project management to early-stage biotech companies in the U.S. Dr. Selliah received his B.S. (Special Honors in chemistry) and Ph.D. (synthetic organic chemistry) degrees from The University of Texas at Austin.
Jen has been married to her loving husband, Stan Summers, for 27 years. Stan is a Box Elder County Commissioner. She has two children, one of which I’m a full time caregiver to, her son, Talan, age 24 years old. Her son has a rare disease called IGg4 systemic sclerosing disease. He was diagnosed in 2012 and the disease was only founded in 2010. She has one daughter, Jandie, age 21. She has just recently become a first time grandmother to Huxley. She attended Weber State University in 2004 pursuing a nursing degree. She was able to graduate with an associates of Health Science before Talan became very ill. Her nursing background has been very helpful in researching Talan’s disease and for becoming an advocate in getting him diagnosed. Jen served as the 2016 Utah Rare Outreach Co-chair and on the Board of Options for Independence. Jen is a member of the RUN Advisory Board and is the RUN Co-chair of igg4.
Stan Summers is the Box Elder county Commissioner, the published author of I Have A Secret, and the proud father of his son, Talan. Talan has a rare disease called igg4 systemic sclorisis, which makes his tissue hard. Stan serves on the RUN Advisory Board and is the RUN Co-chair of igg4. Stan loves his wife and RARE advocate Jennifer Summers, to whom he has been married for 27 years. He is also the proud father of his daughter, Jandie, and their grandchild, Huxley.
Gabriel Eugene Valdez Father to Harlie (Rare Teen) Gabriel Eugene Valdez is a Salt Lake City native who enlisted in the U.S. Army in 1988. He was stationed at Fort Riley, Kansas, with the 101 Support Battalion Big Red 1, and was deployed to Operation Desert Storm/Desert Shield in Saudi Arabia as a 63 H track vehicle repairer. For the past 22 years, he has worked as a building equipment mechanic for the U.S. Postal Service. He and his wife Stephanie have three beautiful daughters. His youngest daughter, Harlie, has been diagnosed with a rare disease: juvenile dermatomyositis (JDM). www.rareundiagnosed.org/Harlie
In August of 2014 Harlie started having pains in her muscles, and was taken in to see a doctor. They said she probably had a virus and would be fine in a few days. But when she started losing her vision, her parents (Gabe and Stephanie Valdez) took her to Primary Children’s Hospital. Eventually, Harlie was diagnosed with Juvenile Dermamyositis, an extremely rare and life-threatening disease that affects the immune system and causes deterioration of muscles. In 2015, Harlie was faced with many life-threatening obstacles and has had many surgeries. After almost a full year of residence in Primary Children’s hospital, Harlie is now home with her family again. Although day-to-day life isn’t easy for the Valdez family, Harlie strives to live a normal teenage life in between her therapy and weekly medical treatments. Before her illness, Harlie had always been very active: playing softball, basketball, and other sports. She has been working hard to gain the strength she needs to resume playing softball one day. www.rareundiagnosed.org/Harlie
Amylynne Santiago Volker
Founder, Nicholas Volker One in a Billion Foundation
Advocate for her son, Nic Volker
Patient Advocate, Public Speaker, Charity Contributor
As Nic battled a life-threatening, mysterious illness over the course of several years, it was in part Amylynne’s unrelenting pursuit of answers & tireless advocacy for her son that led to the historic sequencing of his DNA &, ultimately, the bone marrow transplant that saved his life. The Volker family lives in Monona, Wisconsin, where 9-year-old Nic continues to struggle with the far-ranging effects of his illness and recovery. In addition to caring for her family, Amylynne works to spread a message of fortitude & faith on issues pertaining to children’s health. She has spoken at such events as The MCW Digestive Disease Center 2011 Healthcare Dinner, w/ former First Lady Laura Bush, 2011/12 BioForward Conferences in WI, has been a guest speaker @ Roche Pharma meetings 2012/13 & participated as a panel member w/ the team of Pulitzer Prize Winning Journalists from the Milwaukee Journal Sentinel @ Wisconsin 2013 Newspaper Assoc. Associated Press Convention & Trade Show. She has also been a frequent contributor & speaker for events & radio-a-thons that benefit Ronald McDonald House Charities, CHW & Make A Wish, has appeared in several Capital Campaign fundraiser videos aired in movie theatres & on television in & around the Greater Milwaukee area. Amylynne & her son Nic have appeared on National TV including the Today Show, A syndicated medical show on ABC, PBS NOVA & Japanese Network Nippon( 2013), have been the subject of dozen’s of news articles around the world & most recently in U.S. World News Reports. Amylynne & Nic are featured in a E book on Rare Diseases (2/28/14) to help other families with sick children & a book being written about Amylynne and Nic’s historical medical journey will
be published by Simon and Schuster. www.oneinabillionic.com
Heidi Wallis is a Bluffdale resident and the mother of four children. Two of her children have a rare disease called GAMT Deficiency. Heidi is passionate about patient advocacy and serves as Vice President for the Association for Creatine Deficiencies. Her advocacy work is focused on the early detection of GAMT and other causes of Developmental Delay in children. Heidi also serves as a patient advocate representative on the Mountain States Regional Genetic Network for Utah and the Utah Newborn Screening Advisory Committee. She can be contacted at: [email protected]
Dr. Kai Wang
Dr. Kai Wang received his B.S. degree in Biochemistry from Peking University, his M.S. degree in Tumor Biology from Mayo Clinic, and his Ph.D. degree in Microbiology and Computational Biology from University of Washington. He had postdoctoral training at the University of Pennsylvania and Children’s Hospital of Philadelphia, working on genomic analysis of multiple human diseases. Afterwards, he became an Assistant Professor and later an Associate Professor of Psychiatry at the Zilkha Neurogenetic Institute, University of Southern California. Currently, he is an Associate Professor of Biomedical Informatics and the Director of Clinical Informatics at the Institute for Genomic Medicine at Columbia University. He is the developer of PennCNV, one of the most widely used software tools to detect copy number variations from SNP arrays, as well as ANNOVAR, one of the most widely used software tools for functional annotation of genetic variants. His current research focuses on the development of informatics approaches to improve our understanding of the genetic basis of human diseases and facilitate the implementation of genomic medicine. He published over 150 scientific manuscripts and two book chapters, with over 20,000 citations. URL: wglab.org
Jaime Wendt Andrae, BS, MB(ASCP) CM
Jamie Wendt Andrae graduated from the University of Wisconsin-Milwaukee in 2001 with a bachelor’s degree in Biological Sciences with an emphasis in Molecular Biology. She began her career in 2000 at the Human and Molecular Genetics Center (HMGC) at the Medical College of Wisconsin in the research laboratory of Dr. Howard Jacob. In 2010, Jaime was chosen to build the diagnostic DNA sequencing laboratory in the HMGC’s DNA Sequencing Core. The laboratory became one of the first labs in the United States to offer Whole Genome Sequencing (WGS) as a diagnostic test. The HMGC’s diagnostic sequencing laboratory now sequences the genomes and exomes of over 3000 patients a year. In 2012, Jaime became a certified Technologist in Molecular Biology by the American Society for Clinical Pathology. When not in the laboratory, Jaime enjoys spending time with her husband and son, reading, and traveling.
Stephanie Zamora, BS, MS
Stephanie graduated from the University of Utah with two bachelor’s degrees, one in Psychology and the other in Human Development and Family Studies. She also obtained a Master’s degree from the University of Utah in Human Development and Social Policy. She has eight children and has always loved helping children and knows how difficult it is for children when their family is going through a crisis. She learned about rare diseases when she was entering the Master’s program because of a friend’s daughter who was living with a rare disease, and made rare diseases the focus of her graduate work. She realized there was a lack of knowledge, resources, and policies available to help families and children living with rare diseases. This led to her interest in becoming an advocate and helping to raise awareness for families with rare diseases. In 2016 rare diseases became personal for Stephanie when her son was diagnosed with a rare disease called Chiari Malformation and Syringomyelia. Going through this helped her to understand personally the lack of resources and understanding of those who have not had to deal with a rare disease in their family, and the emotional and physical toll rare diseases take on not only the person with the rare disease, but the entire family unit. She enjoys spending time with her family and educating herself so that she can better help the people she meets in her life. Stephanie serves on the RUN Advisory Board.
RUN Board Members
Our mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support
Chris Hart has worked in the corporate offices of Schneider National as well as Transpersonnel, a subsidiary of Manpower, in customer service management for many years. She worked in financial services for General Electric Healthcare for several years. She is currently the Youth Leader at Pilgrim ICC in Grafton, WI. She is currently the Youth Director and facilitates retreats, yearly mission trips, coffee shop talks and year-round fundraising drives. She is the mother of five children and lives in Grafton, WI.
Mark Hoffman, Ph.D
Director – Center for Health Insights – University of Missouri – Kansas City (UMKC)
UMKC Assoc. Professor Biomedical and Health Informatics
UMKC Assoc. Professor Pediatrics
Children’s Mercy Hospital – Director Translational Bioinformatics
Dr. Hoffman completed his undergraduate training at William Jewell College (Liberty, MO – USA), where he participated in the Oxbridge Honors program as a Molecular Biology major. As an undergraduate, he studied bioethics at Oxford University. He then completed a Ph.D. in Bacteriology from the University of Wisconsin. During that time, Mark completed a minor in Biotechnology and studied Computer Science and an internship at DNASTAR. This work began his professional interest in informatics. After completing postdoctoral research in microbiology, Dr. Hoffman began his sixteen-year career at Cerner Corporation, a commercial vendor of electronic health records. While there he played a variety of roles, from software engineer to Vice President of Research, and led initiatives related to genomics, public health, clinical decision support and informatics capabilities for clinical research. He is an inventor on 16 issued patents. In 2013 Dr. Hoffman returned to academia and is a member of the faculty at the University of Missouri – Kansas City School of Medicine and the Director of the Center for Health Insights. He teaches a class in Clinical Bioinformatics, leads research informatics initiatives and also serves as the Director for Translational Bioinformatics at Children’s Mercy Hospital. med.umkc.edu/docs/chi/MarkHoffmanCV_2013.pdf
Reid Robison M.D., M.B.A.
Reid Robison, MD, MBA, is a physician, geneticist, and bioinformaticist. Dr. Robison was formerly on faculty at the University of Utah and co-directed the Molecular Genetics lab in the Department of Psychiatry, and was Associate Director of the Psychiatry Research clinic, where he conducted research using next-generation sequencing technologies (i.e. whole exome sequencing) for the discovery of disease-causing genes in childhood-onset neuropsychiatric disorders such as autism, intellectual disability and developmental delay. Dr. Robison is an active humanitarian, and has led groups of students and healthcare providers on charitable & teaching expeditions to far off places including post-quake Haiti, rural Ghana, Thai-Burma border camps, and Guyanese orphanages. Closer to home, in 2010, he founded a free neuropsychiatric clinic call the Polizzi clinic, named after his Grandmother, that has provided care for thousands of individuals in the Salt Lake valley. Dr. Robison also co-founded the Utah Foundation for Biomedical Research (and its associated Institute for Genomic Medicine), a 501(c)3 non-profit organization dedicated to finding the genetic causes of rare conditions, as well as advancing the field of genomic medicine by encouraging the use of CLIA-certified next-generation sequencing techniques. He was part of the team who discovered Ogden Syndrome, and has worked with a number of disease pedigrees using whole genome sequencing data to find the etiology of other unknown genetic syndromes. Dr. Robison has experience commercializing healthcare-related technology from ‘bench to bedside’, and co-founded Anolinx LLC, a healthcare data analytics & software firm for the pharmaceutical and biotechnology industries, that was acquired in 2012. Dr. Robison is an adjunct faculty member at both Brigham Young University and the University of Utah, and is now working feverishly on Tute Genomics, a genome analysis and interpretation company, to transform healthcare by bringing whole genome analysis to the masses.
A native of Kansas City, Brian is a seasoned retail executive with over 20 years of experience in the industry. He began his career with Wal-Mart in 1993 and has worked for Kohl’s Department Stores since 1999 where he has held several progressive leadership roles during his tenure. He is currently the Director of Print Production with responsibility for managing a multi-disciplinary business unit of more than 30 associates with an annual budget exceeding $425 million. Brian’s areas of expertise are in business strategy, procurement, operational effectiveness and efficiency and change management. Brian earned an Executive MBA from the University of Wisconsin – Madison in 2010 and a Bachelor of Music, Music Theory from the University of Kansas in 1997. He resides in Milwaukee, Wisconsin.
Gene Wegner, MD
Gene Wegner, MD, B.S. Degree – Dartmouth College, M.D., University of Wisconsin Medical School, Faculty Appointments, University of Wisconsin Medical Imaging Department, Instructor, 1967-69, Assistant Professor, 1968-70, Assistant Clinical Professor,1970-75, Director of Radiology, Monroe Clinic & St. Clare Hospital, Monroe, WI, 1970-75, Serviced small Wisconsin & Iowa Community Hospitals, 1975-2012, Board Certified: General Diagnostic Radiology and Radiotherapy. Special competence in Nuclear Radiology and Nuclear Medicine, American College of Radiology Accreditation, Past member of Radiological Society of North America and American College of Radiology, Author of numerous published medical articles. He is a RUN Board member. Gene Wegner, MD, is a retired radiologist living in Madison, WI. He practiced for over forty years. www.rareundiagnosed.org
Justin Zanik finished his fourth season as the Utah Jazz’s first-ever Assistant General Manager. Justin, who began his new role in September of 2013, works directly under Jazz general manager, Dennis Lindsey. In addition to helping to facilitate contract negotiations, managing the team’s salary cap from a basketball operations standpoint, and overseeing the scouting of international prospects, Justin also coordinates all basketball operations decisions for the Jazz’s hybrid relationship with the Idaho Stampede of the NBA Development League.Involved in all aspects of athlete representation for the past 15 years, Justin has also been a certified agent for the National Basketball Players Association since 2003. He came to the Jazz from ASM Sports, where he served as vice president of the Andy Miller-led agency since 2004. Justin oversaw all aspects of career management for ASM’s basketball clients, ranging from contract negotiations to career planning and client services, including the creation of marketing opportunities and community initiatives. He was also an integral part of all of ASM’s contract and statistical analysis during preparation for free agency, and also developed and customized ASM’s pre-draft training, interview and workout programs. Prior to joining ASM, Justin spent four years as vice president of basketball operations for Priority Sports & Entertainment from 1998 to 2002, where he managed European player contract negotiations and assisted in negotiation, research and recruitment of Priority’s NBA clients. Justin graduated from Northwestern University in 1998 with a degree in economics. He is a member of the Board of Directors as well as Secretary for RUN. Justin and his wife, Gina, reside in Park City, Utah with their three children, Ava, Oskar, and Lucy.