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 When
I tell people in the metabolic disorders community Alex's happy
story, I get a reaction synonymous to that of, "I just had a baby
a week ago. I have 5 nannies and a personal trainer. I sleep 9 hours
a night, uninterrupted, and I work out 2 hours a day. I'm already
losing weight." This is a luxury afforded to a rare few. So is the
inexpensive comprehensive newborn screening with tandem mass spectrometry,
which Alex had at birth.
Our first
child, Alex, was born October 1, 1998. He had his first well-baby
visit when he was 5 days old. During the appointment, the pediatrician
continually raved about him. Whatever a 1-week-old was supposed
to be doing, he was doing all that and more. Alex did so well we
were told we could skip his 2-week well-baby visit. I'm not bragging,
I'm making a point about how silent MCAD is. One hour later, the
pediatrician phoned and told us his newborn screening indicated
he had MCAD. We were told to immediately call the endocrine nurse
at Children's Hospital of Philadelphia. So much for being such a
perfect baby.
The endocrine
nurse explained MCAD and its treatment well - Alex can't convert
fat reserves to sugar and ketones, and therefore he can't afford
to fast. Avoiding fasting is normally not a problem for him, but
can be a problem when he gets sick and can't eat. When he does fast,
he needs IV dextrose to avoid serious consequences including coma,
cardiac arrest, and sudden death. We were given a strongly worded
letter of instruction, to take with us to the hospital when Alex
needs IV dextrose. This letter is necessary because the medical
community is ignorant of MCAD and its crucial treatment.
Alex has never yet been
hospitalized (as of March, 2000). UPDATE:
Alex's first hospitalization went well. UPDATE:
Age 7, July, 2006. Our goal was to keep him illness-free
for one year. After that, we figured, when it happens, we'll just
have to deal with it. We joined the FOD Family Support Group and
I was absolutely appalled to learn that over 90% of the nation's
babies do not receive the comprehensive newborn screening with tandem
mass spectrometry that saved Alex's life. We're talking 4 drops
of blood and $20, what's the big secret? I couldn't even believe
it!
My son was
screened only because the hospital where he was born does it routinely
on all the babies just because it's a good idea. It's not the law
here. If Alex had been born in some of the other hospitals in my
area, he would never have been screened. I thought surely someone's
working on this problem to change it. I failed to find any formal
movements to fight this problem, so I knew I had to do something
to change it. I've been working on it for over a year and it has
been quite maddening knowing that we FOD people hold the key to
many medical mysteries, yet so many people, including family, doctors
and pathologists, ignore us.
Alex's mother
wendy5193@yahoo.com
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