Alex's
Happy Story
This is a personal story shared by a family whose child has Medium
Chain Acyl-CoA Dehydrogenase Deficiency (MCADD).
When I tell people in the metabolic
disorder 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 MCADD is. One hour later, the pediatrician phoned and told us his newborn screening indicated he had MCADD. 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 MCADD 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. Since
he may fast at times such as illness, including flu, vomiting, ear infections,
and general illness, he may require occasional hospitalizations in which he'll
need IV dextrose. 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 MCADD and its
crucial treatment. But
Alex's prognosis is excellent!
Alex has never yet been hospitalized (as of March, 2000). 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.
UPDATE - Alex's First Hospitalization Went Well
Most MCADD parents are not this lucky. Since MCADD is silent, and since MCADD is usually not part of the newborn screening, many children who have MCADD don't know it until after brain damage or death has occurred. I cannot tell you how fuming we would be if this had happened to Alex, and if we had later learned there is an inexpensive test to detect this silent disease presymptomatically!
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 Bryn Mawr 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.
Last
year we joined the Tyler for Life Foundation (now Save Babies Through Screening Foundation)
so that we could help educate
parents and medical professionals on expanded newborn screening available.
Every child with MCADD and other fat oxidation disorders deserves the same
bright chance our son has, and no one should ever have to lose a child to a
disease that can be treated so easily.
Sincerely,
Alex's Mother
Written April 2000 by Alex's Mother
Alex was born on October 1, 1998
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