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 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.
Gina Szajnuk (Zanik)
Gina Szajnuk was born and raised in Madison, Wisconsin. She serves as the Co-founder and Executive Director for the Rare and Undiagnosed Network (RUN), a 501©3 nonprofit organization. Her three children, each of whom live with an undiagnosed rare disease, continue to inspire and motivate her to empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support. Gina is also undiagnosed and is the Undiagnosed Advocacy Ambassador for the National Organization for Rare Disorders (NORD). In 2016, Gina was the Chair of Utah Rare and made Utah the #1 state for Rare Disease Day. She is still on the Executive Committee for Utah Rare. Gina continuously works to build a network of rare advocates, geneticists, researchers, specialists, and volunteers who can come together under one platform. She is a member of the Participant Engagement and Empowerment Resource (PEER) of the Undiagnosed Diseases Network (UDN). She is a member of the Undiagnosed Disease Network International (UDNI) as well as the Rare Disease Diagnosis Consortium. She has been asked to be a Rare Disease Advocacy Professional for The Rare Advocacy Movement (RAM). She is currently working to launch, as the Co-founder, a new platform, RUNmyDNA.com. She is a public speaker as well as a contributor to The Mighty. She is married to Justin Zanik, the NBA Utah Jazz Assistant General Manager. Through her husband’s position in the NBA, Gina has brought awareness to the NBA about the importance of rare and undiagnosed diseases. In 2016, Gina won the Rare Voice Award from the EveryLife Foundation for Rare Diseases as well as accepted the Rare Champion of Hope – Advocacy Award from Global Genes. She graduated with a Bachelor of Arts from the University of Wisconsin – Madison.
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 Georgia Tech. She blogs at overcomingmovementdisorder.com and tweets from @bertrandmight.
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. He also writes a medical blog about the diagnostic process of rare diseases, the reason for the diagnostic process delay from an epidemiological point of view.
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.
Founder and CEO, Some 1 Like You (S1LY)
Makayla earned her Bachelor’s degree in Social Work with a minor in Psychology in 2005 from the University of Wyoming, acting as Student Body President of the Department of Social Work 2004-2005. Makayla gained 4 years of experience working in the medical field as a Phlebotomist and 2 years as a Certified Nurse Assistant prior to completing her degree. She also has experience working with children diagnosed with mental health conditions and their parents while completing her practicum at Peak Wellness Center in Laramie, WY. After moving to Colorado in 2005, Makayla completed her Colorado licensure in esthetics with a medical focus, which she continues to hold currently. Since 2008, Makayla has worked at the College of International Esthetics and continues to do so presently as the Manager of Marketing and Admission Sales. In early 2017, Makayla started her own organization that privately connects individuals with health conditions called Some 1 Like You, inspired by her own 7 year old daughter who has the rare disease Ehlers Danlos Syndrome HT. Makayla’s passion is to raise awareness for the complex needs of those with rare diseases in addition to advocating for patient rights to privacy and support. She currently serves on the Board of Directors of Colorado Rare 501c(3), and is a member of the Family Advisory Council at Children’s Hospital Colorado. She enjoys spending time with her family, exploring Colorado’s beautiful sites, and creating art with her daughter Lily Kate.
Nadia is a seasoned rare disease patient advocate, born with three rare conditions herself. Immediately after graduation, Nadia went straight into patient advocacy work through EDSers United, a foundation she founded for Ehlers-Danlos Syndrome. She currently holds the positions of Senior Executive Vice President of MaxifyLife. Nadia has also facilitated and coordinated the development of the Rare Advocacy Movement (RAM), a patient advocacy initiative focused on documenting the ever-evolving complex structure and unique dynamics of the rare disease patient advocacy landscape. Nadia functions on the premise that she is to make the most of the time that she has left on this earth. With this time, Nadia is determined to make a difference in the lives of those affected by rare conditions through advocacy and facilitating collaboration amongst all rare disease stakeholders that aim to improve the lives of those affected by rare conditions.
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
Josh ForsytheJosh 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. FriskJenny 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 )
Ricki Nicole JensonRicki 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
Kate NielsenKate 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
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
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
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
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.
Hailey SampselHailey 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
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 SummersStan 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.
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]