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Source: Deb Gould, Director, FOD Family Support Group
January 1, 2000
Dear (Insert Legislature/Health Committee person's
name):
I am the Director of a National Family Support Group
for families coping with rare genetic Fatty Oxidation Disorders
(FOD). With many of these diseases, children cannot break down fats
for energy because an important enzyme is either missing or not
working correctly. Death can occur when the disease goes undiagnosed
and untreated. Many of these disorders are often misdiagnosed as
Sudden Infant Death or Reye Syndrome.
My letter to you is prompted by a very personal experience--the
sudden death of my 21-month-old daughter, Kristen, on July 21, 1985,
from an undetected metabolic deficiency called MCAD, one of the
many Fatty Oxidation Disorders. Our second child was diagnosed at
birth after we read about MCAD during his pregnancy and our third
child is a carrier. To say the least, my family has been forever
changed by this disease. It took doctors one year after her death
to correctly diagnose our daughter's disorder after intially misdiagnosing
her with Reye Syndrome—a diagnosis we just did not accept!
It was a year spent in hell from not knowing why
she died.
I strongly believe that if all Fatty Oxidation Disorders
were tested as part of the ROUTINE NEWBORN SCREENING for infants
in our country, our daughter would still be alive today. Yet, because
her disorder was not diagnosed AT BIRTH, Kristen went from a thriving,
energetic, and beautiful little girl to a STARK DEATH STATISTIC!
And our family is not alone.
My letter is to alert you that CHILDREN ARE SUFFERING
AND DYING NEEDLESSLY—WITH YOUR HELP, THAT CAN CHANGE!
I am asking you to consider bringing this issue to
your Health and Medical committees and policymakers in order to
change the law and PROMOTE THE INCLUSION OF FATTY OXIDATION DISORDERS
IN THE ROUTINE NEWBORN SCREENING TESTING.
Metabolic disorders are the second most difficult
medical problem to diagnose, according to a recent Gallup organization
survey of pediatricians. Undiagnosed disorders have been linked
to complications such as cardiomyopathy, developmental disabilities,
seizures, and for some, death. Only 52% of the pediatricians were
familiar with various metabolic disorders, and of those, only 43%
knew that blood tests were necessary to confirm a diagnosis. Using
the PKU blood spot, infants can now be tested for 38 different metabolic
disorders for $3-$20 per test. Don't you think that SAVING THE LIFE
OF A CHILD IS WORTH THIS SMALL FEE?
Fatty Oxidation Disorders meet the 3 Criteria that
have been established for metabolic diseases to be tested at birth.
1) High Enough Frequency: Conditions already tested in many states,
such as Cystic Fibrosis, PKU, and Galactosemia, occur in frequencies
of 1 in 2000, 1 in 15,000 and 1 in 50,000 respectively, and may
vary yearly and from state to state. Some of the FODs, such as MCAD,
occur 1 in 10-20,000. 2) Established Newborn Test: Many of the FODs
can now be diagnosed using Tandem Mass Spectrometry on a blood spot.
The child's PKU card is often used as the sample. Researchers have
also developed prenatal diagnosis methods using amniocytes. However,
the Mass Spectrometry offers a diagnosis in a shorter period of
time. Because the cost of the necessary equipment may be expensive
for EACH state to acquire, our group is suggesting possibly more
cost effective Regional Testing Centers instead of individual state
centers. 3) Established Treatment: Many of the FODs are successfully
treated with FDA approved medications, as well as diet restrictions
and/or supplementations.
As a spokesperson for the FOD Family Support Group,
I strongly urge you to be proactive on this issue and consider advocating
the inclusion of these disorders for Newborn Screening, as well
as appropriating future funding necessary for the cost of equipment
and testing. I would be very glad to discuss this vital issue with
you at your convenience.
Treatment cannot begin WITHOUT AN ACCURATE DIAGNOSIS!
EARLY DIAGNOSIS THROUGH ROUTINE NEWBORN SCREENING OF FATTY OXIDATION
DISORDERS would most definitely PREVENT NEEDLESS DEATHS AND IMPROVE
THE LIVES OF OUR CHILDREN AND THEIR FAMILIES.
Respectfully,
Deb Lee Gould, MEd
Director, FOD Family Support Group
MCAD Parent and Grief Consultant
805 Montrose Drive
Greensboro, NC 27410
336-547-8682
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