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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 expanded
screening, some of which are even ‘fighting’ to keep
from expanding! 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 30+ 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
at least 6 or 7 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
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