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.

DNA Sequencing Results

September 8th, 2008 (or very close to that date)

We received word from the metabolic clinic that Sarah's DNA sequncing results from Baylor did not reveal any mutations on the CPT 2 gene. She said that this was very good news.

The DNA test had been requested through the children's hospital in our county. Due to our switch in insurance, the results were being sent to the Kaiser metabolic clinic to be reviewed. We had not met the Kaiser metabolic team yet. We had to wait until the 10th to meet to discuss the results.

I was so excited. We had been praying that she would not have CPT II. Others had been praying that she would be healed but I didn't know how that prayer would really work considering we didn't even know if she had it in the first place. There would be no way to prove she was healed because we didn't have proof that she had it.

Whatever our prayers had been, I was excited because this seemed to prove that Sarah was fine. The chances seemed in our favor. The doctor had said that there was a 70% chance that the DNA results would find a mutation if she had it. There was a chance that she could still have CPT II and it not show up on the DNA because she could have an unknown mutation or form of CPT II. In the latter case, Sarah could become a test baby to find the new mutation.

I decided to not give Sarah the elixir and just breastfeed for the 2 days we had to wait for the Kaiser metabolic appointment. I claimed that I would still wake her up every 3 hours just to be cautious, but I ended up letting her sleep longer. I wanted to treat her like a normal baby. She seemed great. She seemed more happy, played longer, and wasn't as tired. This also provided proof in my mind that Sarah was a normal baby.