Metabolic Clinic

August, 2008

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).

Insurance

During Sarah's first doctor's appointment, after he had informed me of Sarah's newborn screening results, the doctor mentioned that the most difficult thing that could happen is if we needed to switch insurance. This was not encouraging because we were in the process of switching our insurance over to Kaiser. We were going to begin getting our insurance through Jon's new job instead of through my job that I had before Sarah was born.

There were a few weeks that we were unsure whether we would need to pay out-of-pocket during the transition. The insurance coordinator at my school district was so helpful in figuring out how to get Sarah covered by my insurance for her first couple months of life and what the cost would be if she was denied coverage through Jon's work. The reasoning behind why Sarah may not be covered b Jon's insurance was because we found out about Sarah's possible CPT II diagnosis the morning of the same day that Jon was going to his school district to finish the paperwork for our new health insurance. Sometimes insurance companies can deny coverage based on preexisting conditions. Sarah is Jon's dependent so she was automatically accepted for the insurance. Praise God, that was one worry that was taken care of.

Luckily there were two months, August and September, of overlap coverage. I called the insurance companies and confirmed that care would be continued for Sarah and that no time would be wasted as we tried to figure out whether Sarah truly had CPT II. It turns out the metabolic clinic at the children's hospital had collaboration get-togethers every few months with the Kaiser metabolic clinic. They contacted the Kaiser clinic and informed them of Sarah to help make the transition smoother.