The FOD Family Support Group supports uniform, universal, and comprehensive newborn screening across this country (as well as for other countries!) ~ yet the process to get to that point is long and frustrating ~ many states still haven’t mandated the Full panel of expanded screening (55+ disorders). In the meantime, babies are dying needlessly of metabolic disorders that can be screened for and treated!
By using tandem mass spectrometry technology for a baby’s 1st newborn screen (obtained at 24-72 hrs after birth), more than 40+ disorders can be detected on one blood spot (additional disorders can be screened for using conventional testing procedures). The FOD Family Support Group supports some form of a test/re-test system or procedure in order to identify infants as soon as possible so treatment can begin BEFORE a metabolic crisis and/or death occurs!
While 90% of all screened conditions are found by the first screening specimen, there are some disorders that may not be detectable in all newborns in the first few days of life. Repeat testing on a new bloodspot specimen is recommended at two weeks of age by the American Academy of Pediatrics for all newborns tested in the first 24 hours of life. Many state programs recommend all infants be retested if the first is collected at less than 48 hours and still other states recommend that every baby be retested (reference: National Newborn Screening & Genetic Resource Center, http://genes-r-us.uthscsa.edu/). Additional cases of various disorders are routinely detected in those programs using a second screen. You should discuss the need for a second screen with your baby's doctor or your State Screening Program.
It is our Group’s belief that IMMEDIATE follow-up is needed as soon as the 1st positive screen occurs so CONFIRMATORY testing can be done WITHOUT DELAY! Having the confirmatory test done after the initial positive screen (especially for a suspected FOD) would be beneficial to the infant ~ instead of waiting to do a 2nd screening test on another blood spot and THEN do confirmatory testing ~ for some infants it may be too late by then!
This may not be standard practice for Labs in this country at this time, but we can hope that it MIGHT be someday ~ anything that would SAVE BABIES SOONER would be beneficial to ALL Families!
Short and Long Term Clinical Follow-up Care is another challenge facing not only our Families, but our medical professionals ~ we don’t have enough FOD Experts in this country and abroad to treat our Families, as well as enough Pediatricians, Ob/Gyns, and Family Practitioners, to name just a few, that are even aware of these various disorders, let alone how to treat them. That is where REGIONAL METABOLIC COLLABORATION CENTERS might some day come into play ~ our Group has been a longtime proponent of REGIONAL TESTING CENTERS (instead of waiting for EACH state to set up their own expanded screening program) and Regional Metabolic Centers could offer more enhanced CONSULTATION SERVICES ~ whereby medical professionals experienced with these types of disorders could consult with a newly diagnosed Family’s Dr and offer treatment information. This might also be an avenue for gathering long-term data on disorder presentation and treatment effectiveness ~ which could possibly lead to more effective treatments. Additionally, offering educational seminars around the country might be a future endeavor for these Centers so as to spread the word about the diagnosis and treatment of the various disorders. Even in the state of NC where expanded screening has been mandated for many years, I (Deb) am hearing from new Families that state their Pediatricians have NEVER heard of MCAD, LCHAD etc! THAT HAS TO CHANGE! I urge ALL of our Families to share their story with medical schools or at conferences or their local medical practices so this awareness process can begin ~ it MAY SAVE A LIFE!
Deb Lee Gould, MEd
Director, FOD Family Support Group