We were contacted by phone by the metabolic clinic at the children's hospital in our county. They asked how Sarah was doing. Apparently a big warning sign is if she is lethargic. I couldn't decipher if Sarah was lethargic or just being a normal newborn, which I knew from the baby care classes Jon and I took before Sarah was born. They told me that we should wake Sarah up every three hours to feed her and give her carnitine three times a day just in case she had one of the genetic disorders she was flagged as possibly having. They sent a prescription to CVS for the generic carnitine. Sarah didn't seem to like the Levocarnitine. We just kept squirting it in her mouth 3 times a day wth a feeding and usually watched it bubble back out or come out with all of her spit up.
When we first visited, it was August 7th, 2008. The people were very nice. They explained a diagram of a mitochondria and CPT II and carnitine and fat processing. They talked about many times the Newborn Screening is a false/positive and that we may not have anything to worry about.
They informed us that Sarah's second blood test still showed high C-18. After examining her, they said that she for sure didn't the fatal neonatal form of CPT II because she would be extremely sick, and she wasn't. They said the NBS could still be a false/positive and that the levels could have been what they were due to an undeveloped liver or some other reason. It was still not clear, so they wanted to play it safe to protect Sarah. We were told to feed Sarah a low-fat diet and that breast milk was 50% long-chain-fatty-acids which are the fats that could get trapped in her cells and become toxic, and not to let her fast (go with out eating) for longer than 3 hours. If she fasts for longer than that she may not be able to break down the fats needed to function and so she might start attacking her muscles, heart, or liver and then stop functioning and possibly die because of it.
We were instructed to have Sarah fast for a few hours before she came to the appointment so they could do a blood test. I had forgotten to plan the carnitine around the fasting time so she hadn't had any carnitine since 10pm the night before. Sarah just seemed tired, as per her usual.
They did a heel prick blood test in the office and sent us down to a lab to get another blood test.
At the lab a woman tried to take Sarah's blood from one arm. Sarah just cried and barely any blood came out. Then the woman said that on babies they can only try once and if they are unsuccessful, then they need to let another person try. The next woman was more successful, thank God. I rushed Sarah out and fed her in the car because she hadn't had food in more than 3 hours (I think she had gone almost 5 by that point).
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