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.

Can we function? - My breakdown

August, 2008

Jon was working as a teacher. His first day of school was the day Sarah was born (he took the day off work :~) ). I know how stressful and tiring teaching can be. I did not want Jon to be too sleep deprived considering he needed to do well at his job and I wanted him to be able to drive safely to work each day. Jon, being the great husband that he is, would still come home and help clean the house and spend time bonding with Sarah and learning how to care for her.

Treating Sarah, due to the possibility of CPT II, required us to feed her every 3 hours. This is an average time between feedings for a newborn. It is usual for new parents to be sleep deprived. We knew this. The general advice is to sleep when your baby is sleeping.

Sarah seemed to wake whenever I tried to set her down. Sarah also seemed to know when I was about to eat. I would finally get her to sleep and not in my arms. I would prepare my food and as soon as I was about to eat, she would wake up. It happened often (seemed like every time I tried to eat). Even though I was desperately tired and knew I needed to eat (I didn't usually feel hungry), I saw the humor in the situation.

It also seemed that as soon as I was able to sleep, Sarah would wake up. I did not find this humorous.

I was determined to breastfeed Sarah. There was still the chance that the Newborn Screening was a false/positive and so I didn't want my breast milk to dry up. This required me to pump my breast milk in order to mix it into the elixir. I had only purchased a hand breast pump considering I was going to stay home with Sarah I figured we would only need to have extra breast milk for weekly date nights.

I realized I wasn't finding time to eat or time to sleep or both. I wrote out all that was required of me and the amount of time it usually took to accomplish each task to see if somehow I could work out a system or schedule to get everything done.

Daily Requirements

• prepare elixir
• get dressed - brush teeth, brush hair (at least)
• tummy time for Sarah
• *sleep some*
• *eat more calories than normal to promote breast milk production*

Every 3 Hours

• Heat bottle
• Wake-up Sarah
• Change her diaper
• Feed Sarah
• Interact with Sarah while she is awake
• Try to get Sarah to fall back asleep and lay her down without her waking-up
• Pump my breast milk
• Store breast milk and clean the bottles
• *Eat and drink something*
• *Sleep until next feeding round (unless at this point Sarah was awake, then I needed to take care of Sarah)*

I can't remember the timing of everything but when I was finished with the list, I realized that I could not function. There wasn't enough time to get everything done. I called Jon at work. I was crying and trying to explain the process I had gone through to come to my conclusion. Jon got the next day off work so we could see if there was a way that we could function under the circumstances.

We ended up buying enough Medela bottles so I could pump with them and use them to feed Sarah the elixir without needing to clean them during each three hour allotment of time. Jon took on the role of nightly bottle cleaning duty. He also ensured that Sarah did tummy time to help her get stronger, especially if I hadn't been able to during the day. We purchased microwave meals so I could easily and quickly prepare food for myself during the day. We also purchased a thermos to hold hot water so that I was able to feed Sarah a bottle away from home. The gift of no longer being so confined was very freeing. I searched out a way to get an electric breast pump for free until we found out whether Sarah had CPT II.

We admitted to close friends and family that we were struggling. I learned to ask for more help. I learned to be more dependent and not to fear being an inconvenience. Brian and Kerry were a great help in making sure that I remembered to eat and was able to find the time while Jon was gone at work. My sister gave me the best birthday gift of caring for Sarah overnight while I caught up on sleep (and got totally engorged but it was well worth the rest :~) ). There were quite a few times that I would go to my mom's house to sleep while they cared for Sarah.

It was a rough time but, by the grace of God, we survived.

Doctors Appointment of Doom

July, 2008
Five days after Sarah was born, I took her to her first pediatrician's appointment. The pediatrician that was assigned to me at the hospital was not available to meet within the time frame expected by the hospital. So when I called the pediatrician's office the receptionist said there was another doctor available and proceeded to list many appointment times throughout the day. I agreed to meet with that doctor, somewhat curious why he didn't have many patients scheduled and wondered if that meant he wasn't the greatest doctor to be meeting with.

Jon was at work so my friend Kerry came with me to help make sure I didn't drop Sarah or anything. Seriously though, I really didn't know what to expect with maneuvering a diaper bag and car seat and child etc. and Kerry was my support system for that.

We seemed to wait longer than others that arrived after us, but I was trying to fill out paperwork so I didn't think much of it but I was aware. We were called back and the nurse weighed and measured Sarah and we waited for the doctor.

When the doctor entered the room. He was a Sri Lankan man with a very expressive friendly face. He looked over Sarah and then informed me that the state had called and was basically yelling at the receptionist and himself because they had not informed them on the status of Sarah. The doctor was confused because he didn't know whom they were talking about and then realized that we were sitting in the waiting room while he was on the phone. Sarah's newborn screening blood test had flagged her as possibly having one of two genetic deficiencies, carnitine palmitoyltransferase (CPT) II deficiency or carnitine-acylcarnitine translocase deficiency. The doctor said that it was such a specialized medical area that he could not explain what those meant but that he would get us in touch with the a metabolic clinic so we could figure out what, if anything, was the matter with Sarah.

Throughout this whole experience the doctor handled it with encouragement and appropriate humor. He reassured me that everything he saw showed that Sarah was thriving and she had gained more weight since leaving the hospital. He said that while all the news he had just given me was a lot to handle, the important thing was that, based on observation, Sarah showed no signs to be worried about and so I should just enjoy my baby until I heard more information.

I had not expected this appointment to take as long as it was, so Kerry's husband had to come pick her up so she could go to school. The doctor allowed me to wait in one of the examination rooms with Sarah as I waited for him to make copies of all the information he had been faxed and as he figured out what our next steps were to follow up on the information provided by the Newborn Screening. I called my in-laws and informed them of what was happening and they came to join me at the doctor's office. I called my dad and had him Google the names of of the two possible disorders and he read me the information he found. I was on the phone looking down at my precious baby as my father described symptoms and informed me that these disorders are extremely rare. It was during this time, I allowed myself to grieve over the news and the possibility of what might come. I was reminded of my prayers during my pregnancy. I had prayed for Sarah and that we might love her and have the strength to handle the child that God gave us. I had given her over to God many times before she was born. I was realizing the depth of what my prayers meant.