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.
Makayla S. Allison
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.
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 BramleeCarrie 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 )
Ilana Jacqueline is a published author, marketing consultant and professional patient advocate based out of Boca Raton, Florida. She is the Coordinator for the Genomics Collaborative at FDNA. Ilana is the voice behind the best-selling book Surviving and Thriving with an Invisible Chronic Illness and the award-winning blog, Let’s Feel Better. She served as the Founder and Editor-in-Chief of Today’s Teen Online, managing the entirely telecommuting staff of 80 writers. She ran her own public relations company, About Time PR from 2010-2016 helping small businesses, TV personalities and athletes to jumpstart their careers with mainstream media mentions. These days she is focusing her career towards helping the rare and undiagnosed disease community. As a rare and chronic disease patient and advocate, she served as the Managing Editor for Global Gene’s The RARE Daily for five years. She currently works as Manager of Patient Advocacy and the Coordinator for the Genomics Collaborative at FDNA, the company is a collaboration focused on their use of artificial intelligence, facial analysis and next-generation phenotyping in an effort to end diagnostic delay and improve the awareness of what a rare disease looks in patients of all kinds.
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
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
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 PeedleAliyah 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]
Rare Disease Advocate and Board Member for the Huntington’s Disease Youth Organization (HDYO)
Seth is a rare disease patient and advocate who uses his story to empower others to fight back through advocacy and fundraising efforts. He comes from a family impacted by Huntington’s Disease which fuels his passion for supporting young people impacted by a rare disease. He is committed to bridging the opportunity gap for young people through better programs and services within nonprofit organizations. He has over seven years of experience working and volunteering with a variety of youth development nonprofits. Seth recently obtained his Master’s in Nonprofit Management at DePaul University.
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
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
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.
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]