The Kaiser Metabolic Clinic

September 10th, 2008, 1:30PM

Kerry and I drove Sarah to her first Kaiser metabolic appointment. It was about a 45 minute drive to get there. We had heard the news about her DNA results two days earlier. I had been more lax on following the care directions for Sarah because I thought they were going to tell us that they now thought she most likely didn't have it and so they were going to slowly ween her off the carnitine and elixir to see if her blood levels stayed normal on their own.

When we arrived, Kerry stayed outside. The nurse weighed and measured Sarah and instructed me to put the baby hospital gown on her. I thought it was so cute but I only had my cell phone to take pictures with so they are blurry.

When the doctor entered she looked at the test results that I brought with me from the other clinic. She mentioned that she would ask the people she knew in France about some of Sarah's blood test numbers. The doctor informed me that she spent time in France working with the people that discovered something about CPT II (I think it was either the CPT 2 gene or something about the gene).

I confessed that I had breastfeed Sarah once we heard the news about her DNA testing. The doctor said that my choice was not wise and that I was an ostrich with my head in the ground. She claimed I was in denial about my daughter and her health. She said I should have waited to make such decisions until after I had heard her interpretation of the DNA test. She said I should continue treating Sarah because there is still a chance that she has CPT II even though they could not detect any mutation on her CPT 2 gene.

There was a polymorphism on one strand of her DNA but this variant is not known to cause any disorder. There was a 70% chance that a mutation would be detected and that left a 30% chance that she could still have CPT II because of an unknown mutation. This still confuses me because there were NO mutations found so that must mean if she has CPT II it would be caused by a mutation not found on the CPT 2 gene.

I, at this point, broke down crying. I was expecting good news. I tried to control myself. The doctor and head nurse were not expecting this reaction. They asked me about how we were directed to treat Sarah at the other metabolic clinic. I explained the every three hour feedings and the breast pumping and the carnitine. The doctor said no wonder I started crying when she said to continue treatment. They said they liked to treat a child as naturally as possibly. They said that Sarah should be fed on-demand and could go four hours between feedings if she is sleeping but that when she is awake she will probably want to eat ever three hours anyway.

I spoke with the dietitian over the phone because she was home because of a back injury. She instructed that I should alternate feedings. One feeding should be breastfeeding and then the next a bottle of elixir without breast milk mixed in. This will maintain a low-fat diet but eliminate the hassle of expressing my breast milk.

The doctor diagnosed Sarah saying it was "presumptive CPT II." On all the paperwork it simply states: "Diagnosis:CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY"

They then took a urine sample from Sarah. This was not an easy thing to accomplish. A bag was taped around her urethra and we waited for her to pee. I knew when she was going because urine got on my leg; there was a part of the tape that didn't stick completely.

Before we left to go home, we needed to go to the lab so they could draw more blood from Sarah to test her levels. This time she looked at me as though she couldn't understand why I was letting them do this to her. After, I left holding Sarah tightly as I cried. Apparently Sarah's emotions recuperated quicker than mine because she smiled over my shoulder at Kerry. This helped me feel less badly about my poor pin-cushion baby. I'm so grateful for Sarah's joyful spirit.

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).

First Blood Test Outside of the Hospital

July, 2008

The pediatrician called around to the different labs in our area to see if anyone specialized in or had experience drawing blood from newborns. Thursday morning, the day after our appointment, he called and gave me two locations and the names of people with experience. Feeling the urgency of not knowing, I wanted to follow directions as quickly as possible. My mother went with me that day to get Sarah's blood drawn.

We walked in, presented the paperwork to the man behind the counter, and requested the name of the person with experience with newborns. The paperwork stated something about genetic disorder across the top (I can't remember exactly what it said). I sat back down and started to breastfeed Sarah using the breastfeeding cover (we had rushed to the lab thinking they might have a lunch break and we were trying to get there before it). The man called me over and asked to see Sarah. Considering I had walked over while still breastfeeding, I ignored my modesty (what little I had left after giving birth) and just lifted the cover to show him Sarah. As I walked back to my seat I contemplated why he might want or need to see Sarah and I decided it had something to do with the "genetic disorder" paperwork, like maybe he thought Sarah was deformed or something.

I brought my, at that time, 7 pound baby back into the room to get her blood drawn. The man from behind the counter followed us back and there was another man. I stated the name that the pediatrician had given me and looked at the other man expecting him to confirm his identity. Neither man acknowledged my words. The man from behind the counter started to stretch out Sarah's arm, his ethnicity did not match that of the name given to me by my pediatrician, so I said the name again in the form of a question looking at the other man who ethnically looked to match the name. That guy shook his head no and said the other man was "the boss."

The Boss had me hold Sarah's body down while he held her arm and drew the blood. I'm not a fan of needles. During my pregnancy, I got more relaxed in dealing with needles. But still, I'm not a fan of them. I was able to hold her body down while shushing in her ear farthest away from the needle. Sarah cried. When The Boss declared he was finished, I looked over at Sarah's little tiny arm and saw the larger than I expected vials of blood he had just drawn and blurted out, "How much blood does she have?!" This question was left unanswered as I thanked them and departed with my exhausted daughter.