Alex’s Happy Story (MCAD)
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.