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Kristen Marie Gould
Born Oct. 6, 1983 ~~~
Died
July 21, 1985
Undiagnosed MCAD
(originally misdiagnosed as
Reye's Syndrome)
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Mother's Day, 2001
I am writing to you as a concerned parent, as well
as the Director of an international Family Support Group, that was
'born' out of the death of our daughter, Kristen, who was born on
October 6, 1983 ~ then died suddenly 21 months later on July 21,
1985, all because she was not diagnosed AT BIRTH with a DIAGNOSABLE
and TREATABLE genetic metabolic disorder called MCAD. If she was
diagnosed and treated, she would be a 17-year-old young woman graduating
from high school this May.
The FOD (Fatty Oxidation Disorders) Family Support
Group is a strong advocate for expanding Newborn Screening.
Of course, I would personally like to see ALL of the 30+ disorders
detected through tandem mass spectrometry, as well as all the disorders
that are diagnosed through conventional testing methods, screened
for in EVERY state (possibly through regional testing Labs), but
that will take time and a lot of perseverance. I can tell you, however,
for ALL of our 500+ Families, especially those that have experienced
a child's death, that time can't come soon enough! Those
of us that have been tragically thrust into bereavement and/or are
presently living with FOD children are channeling our grief and
daily challenges into advocating change in this country's newborn
screening procedures.
I am strongly encouraging you to take a positive
step forward in expanding your state's mandated newborn screening
tests for the benefit of all of your families. I have enclosed
information that SHOWS how expanded testing would definitely
SAVE CHILDRENS' LIVES and much heartache. This information is
specific to our Group's disorders, but I am sure there are
MANY Groups across this country that unfortunately could replicate
our results.
In 1999, I surveyed our Families (52 Families responded
~ see FOD
Cost Benefit Analysis Survey Results PDF*) to determine the
Costs of having an infant diagnosed at birth versus those not diagnosed
at all or diagnosed months to years after one or several critical
metabolic episodes resulting in severe medical, cognitive, physical
and emotional complications or death.
Although our sample may be small, the Results
definitely showed that EARLY DIAGNOSIS and TREATMENT at BIRTH
saved lives, as well as prevented debilitating COSTLY complications
and death.
My family, as well as over 75 others in our Group
(not all responded to the Survey), are living the ramifications
of NOT having MCAD (or the other detectable FODs) diagnosed at birth,
experiencing 1, 2 and even 3 deaths BEFORE a diagnosis was ever
made. Several of those deaths were MISdiagnosed as SIDS or
Reye's Syndrome leaving families to grieve the unknown and literally
putting their other children and future children at great risk.
My family lived for 1 year with the nebulous 'diagnosis'
of Reye's Syndrome as the cause of our daughter's sudden death before
we finally discovered it was MCAD, when our 2nd child was born and
tested positive for MCAD. Fortunately, the Medical Examiner in Illinois
had saved some of Kristen's liver tissue and the frozen specimen
was tested by Dr. Charles Roe when he was still at the Duke University
Medical Center (presently at Baylor University Medical Center in
Dallas). I believe she was the first documented post-mortem MCAD
diagnosis in this country. It was definitely not an 'honor' that
we wanted, but at least we finally knew why she died.
If we hadn't insisted on testing our son at birth
and discovered his metabolic disorder, he too most likely would
have died or experienced severe complications at 6 months of age
when he had his first illness. Because we KNEW he had MCAD, we
KNEW what to do in case of an emergency. We weren't given that chance
with our daughter!
My point is that these deaths, and deaths that
are presently occurring because many states have NOT implemented
this VITAL testing, could have been and can be PREVENTED!
Because the technology is already in place (refer to our main NBS
page and scroll down to the NBS Labs), these disorders do not
have to go UNDETECTED and UNTREATED!
Our Survey Results may show the high monetary costs
of late diagnosis or no diagnosis but there is no way
anyone can put a cost on the EMOTIONAL TOLL those deaths have taken
and are taking on our Families! No Family should have to endure
such a tragic loss.
I am URGING you to expand your Newborn Screening
so that ALL families in your state will have that chance to live.
EVERY family DESERVES that!
Sincerely,
Deb Lee Gould, MEd
Director, FOD Family Support Group
MCAD Parent and Grief Consultant
805 Montrose Drive (see 'Contact Us' above
for NEW address)
Greensboro, NC 27410
336-547-8682
deb@fodsupport.org
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