Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
Bobbi lives with her husband, Tim, and three children, Jordan, Joelle and Jace. She works as the Director of Children’s Ministry in their local church, home schools her children and enjoys both reading and creative writing. When two of their children were diagnosed with CTX several years ago, the Blanchard’s were incredibly grateful to have received a diagnosis and treatment early enough to impact their kids’ health. The entire Blanchard family is committed to helping locate and support current and future CTX families
George is the owner of Crown Pest Control in Charlotte, NC. He has been affected with CTX since age 34 and enjoys traveling, the outdoors and being with his family. He and his wife have four children and are expecting their first grandchild soon. George has been on Chenodal from the very beginning of his diagnosis but feels his gait in his walk is deteriorating over time.
Dr. Andrea DeBarber is a Research Associate Professor at Oregon Health & Science University (OHSU), Portland OR, where she oversees the OHSU Sterol Analysis Laboratory that performs blood and urine testing for diagnosis and therapeutic monitoring of CTX. A focus of Dr. DeBarber’s research has been on developing improved diagnostic and screening tests for CTX.
Shannon is an attorney and Director of the East Central Illinois Regional Office of the Illinois Attorney General and represents Illinois boards agencies and commissions in civil litigation. Shannon’s 19-year-old son is a CTX patient and was diagnosed with CTX at the age of 16. While Shannon was grateful to have a diagnosis, Shannon strongly believes that newborn screening for CTX should become the norm as early intervention is so important. Shannon enjoys time with her family, gardening, landscaping, and walking in the forest.
Shawn Laurie is a CPA living in Mansfield, Texas with her husband, James who is a CTX patient. She works in Financial Reporting at a private company in Dallas, Texas where she has been for 15 years. Her husband, James was diagnosed with CTX at 32 years old. Shawn has a passion for advocating for CTX patients, educating medical personnel about CTX, and supporting the caregivers of those affected with this disabling disease.In her spare time, Shawn loves to spend time with her family (especially the grandchildren) and quilting.
Neel is a life sciences industry consultant specializing in advising global biopharmaceutical clients on commercial strategy across a wide range of therapeutic areas including rare/orphan diseases, neurology, and cardiometabolic conditions. Neel’s older sister Sangna was diagnosed with CTX at 34 years old, after decades of missed symptoms and misdiagnoses.
Hollisa is a CTX patient, who currently is a stay-at-home mother to her 4-year-old daughter, which keeps her busy. Prior to staying home, Hollisa worked as a project assistant at an engineering firm for 15 years. Hollisa volunteers for the Chicago Windy City Lions Club and sings karaoke whenever she has the chance.
Dr. Steiner is a Professor of Pediatrics (Clinical) at the University of Wisconsin, Chief Medical Officer at Prevention Genetics, and Newborn Screening Program Medical Consultant for the Wisconsin Department of Health Services. Dr. Steiner is board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics and serves as the Editor in Chief of Genetics in Medicine. Dr. Steiner is an active clinician-scientist with specific interests in inherited metabolic diseases, metabolic bone diseases, disorders of sterol and bile acid synthesis, genetic testing, and newborn screening. In addition, Dr. Steiner is an accomplished researcher, having served as the Principal Investigator for more than a dozen clinical trials and research studies on rare diseases, including Cerebrotendinous Xanthomatosis (CTX), Smith-Lemli-Opitz Syndrome (SLOS), Osteogenesis Imperfecta, Phenylketonuria, Lysosomal Storage Diseases, and others. Dr. Steiner has cared for CTX patients and been involved with CTX research for over two decades.
Sue is a Speech-Language Pathologist and mother to Eric Stewart, 30, who is severely impacted by CTX. Eric lives in a group home, is non-verbal and behaves at a three-year-old level, needing help with many aspects of daily living. Sue enjoys advocacy, being Eric’s guardian, and spending time with her three sons, their wives, and two granddaughters.
John works in IT and engineering in the banking industry in Portland, Oregon. His daughter, Ashley, was diagnosed with cerebrotendinous xanthomatosis (CTX) in 2004. In addition to serving on the CTXA board, John has been a member of the ULF Board of Directors since 2007, serving as a CTX patient liaison and managing the CTX Facebook group. John is a long-time advocate in bringing attention to the need for newborn screenings and newly developed tests to the recommended uniform screening panel (RUSP) as well as efforts to determine CTX disease prevalence. John enjoys spending time with his first grandchild, going to comedy shows and concerts.
Chris is the ULF’s Executive Director and CTX Alliance Advisor. He began working with the ULF in early 2021 and brings a wealth of experience to both organizations serving as nonprofit leader and executive directors for over 30 years.
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1586 Sumneytown Pike
PO Box 1322
Kulpsville, PA 19443