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Consumer Highlight: Jodi Kotrady-Hatin | News
Jodi Kotrady-Hatin lives in St. Augustine, Florida with her husband Joe and their two daughters Harlow (8 years old) and Hailey (4 years old). The Hatin Family became very involved in the PKU Community when their youngest daughter Hailey was born in May of 2006 and was diagnosed with Classic PKU (CPKU).

  In 2008, Jodi found herself becoming even more of an advocate and involved in Tallahassee politics when Florida was considering a cut of the budget that impacts Newborn Screening and Regional Genetics. She and fellow Mom Melissa Perez along with Heather Stalker and Penny Porch from UF Shands Genetics Department traveled to Tallahassee and talked to everybody that would talk with them on the importance of Newborn Screening and the need for the genetics clinics etc. At the end of the day they were successful in saving the budget for Regional Genetics.   Jodi has made it her lifetime mission to continue to advocate for Hailey and other children or patients like her. She plans on teaching her daughters how to do the same. Jodi is very involved in many organizations for the cause. She is a member of SERC where she represents Florida Consumers. She is also a board member of Florida PKU. She is a member of National PKU Alliance and attends many meetings that take place on educating the PKU Community. She also stays very involved in politics at a local, state and federal level where she is and always will be an advocate for the PKU Community. This community spans out to other disorders as well.    Jodi’s background has been a career in financial services for approximately 14 plus years. She worked for many years at Merrill Lynch where for 10 years she worked as a Financial Advisor. Jodi’s passion for advocacy and genetics has motivated her to now go back to school where it is her personal goal to become a Registered Nurse and ideally one day work in pediatrics possibly even genetics. Jodi currently holds a B.A. from the University of North Florida.   Jodi is very involved in her local community as well. She served on The Arc of the St. Johns Board for 9 years. She is a board member an active Rotarian in the St. Augustine Rotary Club. She also serves on the finance committee of her church, St. Anastasia Catholic Church and she also serves on the board of The Dance Company, where her two daughters are very involved in the art of dance.    

Keywords: consumer  pku  Florida

SERN Highlights
May 2018

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
JELILI OJODU, MPH | Director, Newborn Screening and Genetics
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