The goal of the FamilieSCN2A Board Members is to work together to support the FamilieSCN2A Foundation mission which is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.
President, Founder, Research Committee Chair
Leah Schust has spent her entire career working in health care administration and never imagined she would find a use for her skills in an entirely different way. From medical secretary to hospital manager and everywhere in between, Leah learned how to manage the needs of large populations within a medical setting. When her son, Ben, was diagnosed with an SCN2A Disorder in 2012, it became abundantly clear how to leverage her 20 + years of experience to help not only her family, but hundreds of others.
Communication and collaboration being her area of expertise, Leah has been instrumental in forming relationships with the clinicians and researchers to advance progress in studying SCN2A and novel treatments. These alliances with researchers and industry leaders have been influential in catapulting SCN2A on to the map of exciting targets to study. Academia, researchers, and industry leaders all need an organized patient community and we are counting on them for a cure. It is a recipe for success.
In addition to serving as the foundation's president, Leah works as an executive meeting planner for a global Fortune 500 healthcare company. She is a loving mother and wife and spends her free time (hehe) outdoors with her family on their home’s property in Gettysburg, PA.
“Do your little bit of good where you are; it’s those little bits of good put together that overwhelm the world.” ~ Desmond Tutu
Vice President, Founder, Community Support Member & Finance Committee Chair
Carla Forbes has an internal drive to get things right. This drive stems from her many years spent in dance tediously practicing routines until she reached perfection. When her child was born and immediately started having seizures, she faced the challenge head on, fighting for the best care from the start. Carla does not settle for “good enough” in any aspect of her life, but especially not when it comes to her son, Colin. When she learned of his diagnosis, a rare genetic condition called SCN2A, she immersed herself in learning more and was one of the first to join the online support group set up to connect families with the same diagnosis. From day one, Carla spent her time in the group encouraging and surrounding the other parents with her positive and caring attitude. Quickly, she became a leader in the group and co-founded the FamilieSCN2A Foundation, a 501(c)3 set up to find a cure for SCN2A. Carla wears many hats to help in the foundation, including Vice President, Community Support Chair, Finance Committe Member, and family mentoring. But most importantly, she believes in a cure and makes it her life mission to share the hope with others.
Secretary, Director at Large, Marketing Committee Member
In 2012, Jenny Burke was grateful to finally have a diagnosis for her son, Alex, who has suffered from devastating seizures since birth. But it wasn’t until Leah Schust connected with her three years later that she began to have hope in finding a cure for this rare genetic disorder. Jenny draws on her experiences in the publishing industry and as a small business owner to help the FamilieSCN2A Foundation reach it’s research and fundraising goals. She feels blessed to be working from home on behalf of all families affected by an SCN2A mutation while caring for her family (Alex's big brother, Sam, and husband, Mike) and volunteering in the local community. She lives in Sterling, Virginia.
Director & Fundraising Committee Chair
Board member Michelle Lewis was blessed with the birth of her first and only child, Eliana, in 2013. Shortly after birth, Eliana began having seizures, which began a five month journey in the NICU, where Eliana received her SCN2A diagnosis. Along with being a FamilieSCN2A Foundation board member, Michelle is a full time high school social studies teacher and avid sports fan. She resides, with her family, in Kansas City, Missouri.
Director & Marketing Committee Chair
In 2014, Kristy received the news that after 9 1/2 years of searching for answers, whole exome sequencing determined that her oldest daughter, Emily, has an SCN2A mutation. Immediately, Kristy turned to the Internet to find more information and came across families who already had joined forces through social media. Kristy has a passion for research and quest to find the best care, treatments and ultimately a cure for Emily, so it felt natural to join the FamilieSCN2A board to help kids across the world like Emily. Kristy resides in Stillwater, Minnesota with her husband, Mike, daughters Emily and Isabelle, along with their dog, Tito. Kristy is a full-time caregiver to Emily and when not attending appointments, meetings, or anything related to Emily's care she enjoys spending time with her family, watching movies, and working out. Kristy is passionate about helping others and jumps on the opportunity to help a family navigate the complex medical system and waivers in her home state. She joined forces with other Minnesota families to help get cannabis approved in the state of Minnesota for children and adults diagnosed with epilepsy. Kristy is also a former volunteer for the Washington County Family Support Committee which supported more than 10,000 families county wide who all had children with special or medical needs. When the committee was dissolved by the state, Kristy created her own private support committee which supports moms of children with special and medical needs within her school district. Kristy enjoys dabbling in web design and helping small businesses with marketing and branding. When not helping others or hanging with her family, you can find Kristy enjoying time with her close friends whom (many) also have children with special and medical needs. Kristy lives by her own motto of: "Live Gracefully; Believe Wholeheartedly."
Director at Large, Research Committee
Will is father to Emery and husband to Jamie, he thinks they make a pretty great team. By day he’s the founder and CEO of one of the top independent creative agencies in the Middle East (LMTD) and one of the foremost mentors in the MENA startup movement (Wamda, Techstars, Flat6, and MIT MediaLab). He’s been based in the Middle East for nearly 7 years and has built some of the best digital campaigns in the region.
Previous to this, he helped lead one of the fastest growing agencies in NYC (Carrot), and before that he was Managing Editor for Disney’s first foray into social media running the launch from strategy to implementation growing them to over 300 Million fans on Facebook and taking part of the first ever promoted tweet on Twitter.
Will is passionate about family, travel, and helping to find a cure for SCN2A disorders!
Catalina Betancur Santamaria
Director at Large, Community Support Chair & International Committee Member
Catalina, is originally from Colombia, and moved to the United States after completing her Bachelor’s Degree in Business Administration. During her first years in the US, she worked at the Organization of American States and the Embassy of Jamaica while also pursuing a Master of Arts in Transportation Policy, Operations and Logistics.
She has always had in her mind that one who perseveres, succeeds. So, when she noticed that Mateo, her younger son, was having difficulty reaching simple milestones, she knew something was not right. Catalina set her mind to finding out what was happening to Mateo in order to get him the help he needed. Little did she know, this turned to be the toughest time and fight of her life. Catalina had to educate herself in some areas that were unknown to her in order to have the right arguments to convince doctors and family members that Mateo needed help.
She has grown to be a self-starter with mind towards continuous improvement. When the FamilieSCN2A Foundation requested volunteers to join their mission, Catalina didn’t hesitate to apply. She is proud to serve and loves to be in contact with other SCN2A families to help them in any way they need.
Mateo was diagnosed with a SCN2A related disorder at 18 months. It’s been a difficult journey since then but they are trying to spend their days not only in therapies and doctors appointments but enjoying their family and life together.
Catalina lives in Georgia with her Husband Guillermo and their two sons, Miguel and Mateo.
Director at Large, Research Committee
In 2017, Emily Park reached out to FamilieSCN2A in search of a partner for gene therapy. Emily’s daughter, Caroline, was diagnosed with SCN2A at the age of 2 and started seizures at age 4. Leah Schust responded almost immediately to Emily’s online inquiry through the foundation’s web site, and since then, the two have been discussing how to make the possibility of gene therapy a reality. After a year of discussion, in 2018, Emily and her husband John made the relationship with FamilieSCN2A more official, by joining the board and pledging a private donation to contract with collaborators.
As a daughter of a Methodist Pastor, Emily draws from her experience in volunteerism. She has also spent the last several years managing projects within John’s organization, Parkwest Casinos. More recently, Emily launched her own women's retail business Le Box Blanc. Emily and John reside in Los Angeles and have three children- Henry, Caroline “CC”, and Lillian. Emily and John love to travel with the kids and barbecue in their back yard.
Director at Large
Maura is first and primarily a mother to Ashlyn in North Andover, Massachusetts who has SCN2A. There she works as an attorney for the national law firm managing Massachusetts and Maine cases against large banks and financial institutions.
Prior to moving back to Massachusetts from Maine a few years ago, Maura adjudicated business and employment cases for the Department of Labor. Previously, as General Counsel of a drug testing company, Maura minimized the legal risks advising its officers on matter of regulatory compliance.
Brett is husband to Ashley and father to Hudson. July 4th, 2016 was a day that changed their family's life drastically. It was the day Hudson had his first Tonic-Clonic seizure. Hudson had a fairly normal first 23 months of life up to that point, and about 6 weeks later he was diagnosed with an SCN2A gene mutation and currently fighting the battle against seizures and autism daily.
Brett graduated from Texas Tech University with a Business Management Degree. He previously worked as a General Contractor, Independent Insurance Adjuster, and most recently Risk Management for the Union Pacific Railroad. August 2017, he resigned from the Union Pacific Railroad to focus on Hudson's care and to find a cure to SCN2A.
In his free time he is an avid bass fisherman, enjoys taking in an amazing sunrise or sunset, and loves travelling with his family. He is very excited to be on the FamilieSCN2a Foundation committee and helping to find a CURE.
Fundraising Committee, Grant Writing
Stacey has been mom to Sam since 2005. She and her husband Tom knew Sam was going to bring unexpected things when he showed up late with bright red hair on their wedding anniversary. Sam has struggled with epilepsy since he was about 19 months old; the genetic cause was finally identified when he was 11. Sam’s needs are many, but he brings love and reminds us to slowdown and focus on what’s really important. Stacey volunteers on the Family Advisory Council at the hospital where Sam receives his care and is most grateful for the opportunity to connect with all the amazing families who deal with complex health issues.
Stacey is also mom to Maya and Grant and caretaker for puppy, Seabrook. She works for a nonprofit member organization of health professionals who provide care in rural areas. Stacey enjoys gardening, reading, going for hikes, and helping coach her kids athletic teams.
Stefania lives in Padua, Italy. She has been working in Tourism for many years and she is now a tour guide and freelance translator/interpreter in her city. She is mother to 3 boys: Marco, Matteo and Davide. It was perhaps for the fact of not being mum for the first time that she first noticed that Davide, her youngest son, was having troubles maintaining all milestones during his first year of life. After many detailed examinations and hospitalizations it was in 2016 that a genetic test on the Whole Exome Sequencing determined the cause of her son's condition.
Davide's variant in SCN2A gene is not causing him evident seizures but sleep problems, communication difficulties and some other conditions related to the Autism spectrum.
Stefania is fully convinced that the most powerful force ever known on this planet is human cooperation and she will do her best to work- together with FamilieSCN2A Foundation -for raising awareness on SCN2A. She is willing to help creating a strong network of parents and researchers working together for the best treatments and -last but not least- for a cure.
Community Support Committee
Amy is mom to SCN2A warrior Bert. After a rough pregnancy Bert was born via C-section at 37 weeks & within 36 hours he was emergently taken to the NICU with hypoglycemia & apparent seizures. The seizures became obvious in the following weeks and after a stat Gene Dx sample was sent, Bert was diagnosed with an SCN2A mutation at just 3 weeks of age. After being written off by the genetic counselor, Amy took to the internet and found this little organization that just obtained 501 (c) (3) status: The FamilieSCN2A Foundation.
Active in fundraising for the foundation, Amy was fortunate enough to become a member of the Community Support Committee in 2018. Through this role she hopes to connect with other families and celebrate our remarkable children through the Birthday Club.
In addition to taking Bert to his numerous appointments, Amy also works as a pharmacist at the Minneapolis VA. She resides with her family in Victoria, MN.
Finance Committee Member
Sandhya is wife to Prasanna and mother to Sean and Sophia (6 years old twins) and 4 year old Susan. Sean and Sophia were born near term and growing well till about 6 months, after which Sophia was not meeting her milestones. She started receiving therapy from MO First Steps at around 11 months and was diagnosed with autism at 22 months.
Sophia had her first seizure at 2.5 years and was diagnosed was denovo SCN2A gene mutation at 4 years. She is very strong physically and always on the move. She is mentally and verbally challenged but is loved by everyone due to her goofy attitude, prettiest smile and an innocent lovely face. She loves cuddles, water and cycling on her adapted bicycle. Prasanna and I came to USA in 2006 from the busy lively city of Mumbai and made St Louis our home. Prasanna is a software engineer by profession. I am a finance professional. I like playing Badminton, dancing & travelling with family. I am so happy to be part of the SCN2A Finance Committee and help out. Also wonderful to meet other parents and children with similar challenges on our SCN2A journey.
Doug is grandfather to Willa June, who is named after his mother, June. Willa began having seizures and required hospitalizations starting at 18 months old. Doug is eager to work with the fundraising committee, as a recently retiree, and wishes to support the Foundation in its important work and family support.
For 20 years Doug worked as an economic development consultant in Minnesota, with fundraising and event planning responsibilities. He taught fourth grade for a year, promoted economic development in Latin America for a decade, and was an analyst at the largest 9-1-1 Center in the Upper Midwest prior to his retirement. Doug intends to contribute hope, patience, and tenacity to the fund-raising committee.
Lexie is, first and foremost, mother to 3-year-old Keegan. Keegan was born a healthy child with slight speech and movement delays. It wasn't until November, 2017 that seizures presented themselves. With the late-onset seizures, Keegan regressed in most of the milestones he had worked so had to reach in his first year and a half of life.
On December 15th, 2017 Keegan was diagnosed with SCN2A which brought more clarity and light to his daily struggles of trying to understand the complex world we live in. Although their neurologist knew of no support to help them with Keegan's rare genetic mutation, they were lucky to quickly find the FamilieSCN2A support page and connect with many families facing the same challenges.
From Denver, Colorado, Lexie works at home alongside Keegan's father, Michael, to provide round the clock care and to give Keegan the best life possible. Although this journey is not always easy, Keegan's strength and resilience keeps his parents hopeful. That's why they both wanted to be on the front lines to help fight to find a cure for all SCN2A families!
Lead of Crisis and Loss Support
Tracy is the mother to three beautiful girls. Sophie who is 7. Charlotte who became an angel in 2016 after battling SCN2A for two and half years, and Maggie who became an angel in 2018 at the age of 33 weeks after a placenta abruption.
Charlotte began having seizures in utero, and when she was born was discovered to be having 400+ seizures a day. She was diagnosed with SCN2A at the age of three months. Her life was complicated with many hospitalizations surrounding inadequate seizure control, respiratory failure, bowel issues, and urinary retention. She spent over half of her short life in the hospital. She passed away on November 29, 2016 when it was apparent that her brain was no longer controlling basic functions, and the doctors were unable to get her out of status. The Umezu family did the best they could to surround her with as much Joy as they possibly could throughout her life, enabling her to be pushed in the Twin Cities full marathon, visit Hawaii, and enjoy many activities that typical children do.
Tracy works as a Pediatric Blood and Marrow Transplant nurse at the University of Minnesota Children's Hospital. In her free time she can be found leading Sophie's Girl Scout Troop, coaching swim team, filling in as Sophie's school nurse, and scrap-booking.
SCIENTIFIC ADVISORY BOARD
Dr. Jeff Cottrell
Dr. Cottrell is Director of Translational Research at the Stanley Center for Psychiatric Research at the Broad Institute. He leads a group with diverse expertise focused on translating discoveries of the genetics of psychiatric disease into research programs for the development of novel, mechanism-based treatments for these disorders. His group is focused on multiple aspects of therapeutic discovery: 1) the identification of new targets through a deep understanding of the role of disease-linked genes in neuronal biochemical signaling, 2) the development of high-throughput neuron-based assays, and 3) the implementation of psychiatric disease drug discovery programs for projects from across the Stanley Center, through co-leading a multidisciplinary therapeutics team.
Dr. John Huguenard
John Huguenard is Professor of Neurology and Neurological Sciences, with additional appointments in Neurosurgery and Molecular and Cellular Physiology, at Stanford University School of Medicine. His work has focused on two forms of epilepsy, generalized genetic epilepsies (absence epilepsy) and post-lesional epilepsies subsequent to stroke or developmental lesions. A central theme is the inhibitory system mediated by the neurotransmitter GABA, which can play either seizure-promoting or seizure-suppressing roles, dependent on circuit location. His work has provided insight regarding the roles of specific neurotransmitter receptors within distinct synapses within epileptic networks, as well as the properties of the inhibitory neurons mediating such actions. Results from his work have supported development of synapse-specific (pharmacology) or cell specific (optogenetic) interventions designed to rein in epileptic circuits. He uses a variety of innovative methods, including in vitro and now increasingly in vivo techniques, including LFP and EEG recording in awake animals, whole cell voltage and current clamp intracellular recording in brain slices, calcium, sodium, voltage sensing and glutamate imaging including multiphoton imaging, neurocomputation, dynamic clamp, image analysis and immunohistochemistry.
In addition he has extensive leadership and research training experience, including directing the Stanford Epilepsy Training program for postdoctoral fellows for the last 10 years, and the Stanford Neurosciences PhD program from 2006-2013. He is committed to promoting rigorous research – he was an author on the recent NINDS rigor document regarding pre-clinical research (Landis et al, 2012), chaired the Gordon Research Conference on Epilepsy, served on both foundation and federal funded research review committees, and is recent past chair of the NIH CNNT study section. He is a strong proponent of rigorous and effective training, especially in neurophysiology and epilepsy research, with many of his trainees now established as principal investigators in the field, including several that received K99/R00 awards while under his supervision, including Mark Beenhakker (UVa), Xiaoming Jin (IU), and Jeanne Paz (UCSF/Gladstone) and Christopher Makinson (awarded in 2018).
Thomas R. Ierardi, B.S.
Since May of 2015, Mr. Ierardi has owned and Operated Finger Lakes On Tap, a small restaurant/tap room in the picturesque village of Skaneateles, NY. From August 2008 to March 2015, Mr. Ierardi was a Project Leader/Project Manager at Quintiles (Formerly Advion BioSciences) in Ithaca NY, a Contract Research Organization (CRO) providing LC/MS/MS data for clinical and preclinical studies. Prior to that, he was a Managing Engineer at The Computing Center, a private technology company focusing on remote management of computer systems. From May 1996 to January 2006, he held a number of positions at Advion BioSciences, a start-up CRO, including Director of Information Technology, Senior Software Engineer, and Senior Support Analyst. From 1992 to 1996, he was a Scale-up/Validation Scientist at Wyeth-Ayerst Research, a large pharmaceutical company. From 1988-1992, he was an Associate Scientist at Hygeia Sciences, a small Medical Device company.
Dr. Jennifer Kearney
Dr. Kearney received her Ph.D. in Neuroscience from The University of Michigan in 1997, and remained there for her postdoctoral training in Genetics. In 2002, she joined the faculty in as a Research Investigator in Human Genetics. After five years, she moved to Vanderbilt University in 2007 to join the Division of Genetic Medicine and the Institute for Integrative Genomics. And in July of 2014, Dr. Kearney joined the Department of Pharmacology at Northwestern University Feinberg School of Medicine. Her research program is focused on identifying genetic factors that contribute to childhood epilepsy and understanding how they contribute to the underlying pathophysiology by studying the effect of mutations in animal models. The overarching goal is to translate this knowledge to better treatments for refractory epilepsies.
Dr. Dennis Lal
Dr. Lal, formerly from the Broad Institute, uses genetic data from in-house and globally collected patient cohorts to discover genes related to epilepsy syndromes, to develop novel methods for interpreting missense variants and to characterize patient disease trajectories. Through his research, Dr. Lal hopes to increase our understanding of how alterations in the genome contribute to neurodevelopmental disorders and, ultimately, to improve patient outcomes.
Dr. Lal’s ong-term research interests involve the development of a comprehensive understanding of how alterations in the genome contribute to brain disorders. His academic training and research experiences have provided him with an excellent background in multiple disciplines including molecular biology, genetics, and bioinformatics as well as a comprehensive understanding of the clinical and neurological presentation of neuropediatric disorders. Overall, the main focus of the group that he leads is the discovery, evaluation, and translation of genetic variants into clinical care. Specifically, they aim to develop computational methods which integrate large genetic, clinical, and biological data sets to improve the prediction of genetic variant effects on patient outcomes – paving the way for personalized medicine.
Dr. Heather Olson
After medical school training at Mayo Medical School, Dr. Olson did all of her post-graduate training in Boston then came on faculty at Boston Children’s Hospital. Dr. Olson has a degree in epidemiology from the Harvard T.H. Chan School of Public Health. Her clinical focus in on Epilepsy and Neurogenetics/Epilepsy Genetics especially with infantile onset. She is a clinician and clinical researcher and her research is in the field of Epilepsy Genetics, particularly genetics of early onset epileptic encephalopathies and genotype/phenotype correlations. Dr. Olson is funded through a career development award for clinical research from the National Institute of Neurological Disorders and Stroke (NINDS).
Tom Otis, Ph.D.
Tom is the Chief Scientific Officer at the Sainsbury Wellcome Centre for Neural Circuits and Behaviour and holds a Professorship in Neuroscience at University College London. Tom received his B.S. and M.Sc. degrees in Biological Sciences in 1988 and his Ph.D. degree in Neuroscience in 1993, all from Stanford University. Prior to SWC/UCL, he led a team of 45 scientists conducting early-stage drug development in neurodevelopmental disorders and psychiatry at Hoffman La Roche Pharmaceutical Company. Before Roche, he served as the Edith Agnes Plumb Chair of the Department of Neurobiology at the University of California, Los Angeles. His research has focused on cellular and circuit function of the cerebellum and hippocampus, as well as preclinical models of spinocerebellar ataxia and amyotrophic lateral sclerosis.