October 13 and 15, 2008
It seemed to take a while for an appointment to be made with the Kaiser cardiologist. We had another appointment already set through the other insurance but we canceled that in order to have everything connected through Kaiser so that test results wouldn't need to be transferred. I started to regret that choice because I was getting impatient and wanted to know if Sarah's heart was OK.
When we finally met the cardiologist he had a great peace about him. Sarah enjoyed when he listened to her heartbeat using the stethoscope. I guess she liked how cold it was on her chest or something because she smiled and started drifting to sleep. The cardiologist seemed enthralled by Sarah drifting to sleep. I noticed that his stethoscope started to simply hover near her chest as he watched her quickly drift to sleep. He broke the silence by saying he loved watching babies peacefully fall asleep. It was such a sweet moment (if i seems slightly creepy to you then I didn't not accurately portray the situation). In that moment I could tell that he must be a father, I suspected he was a Christian, and that he truly cared about the children whom are his patients.
I mentioned that I had been impatiently (I didn't use that word but this meaning was conveyed) awaiting this appointment. He informed me that he was new to Kaiser and that he was frustrated with the scheduling department because there are many times he is just sitting in his office without any patients booked. Basically, there was no need for me to have waited so long for an appointment and he explained his understanding of how the scheduling department works. He asked that I simply call directly to his office in order to make an appointment to eliminate the wait.
He informed me that Sarah had an innocent heart murmur and that it is very common and nothing to worry about.
We scheduled a time to go to the hospital two days later so Sarah could get an echo cardiogram done.
The morning of the echo cardiogram I went to my mommy's group at church. Someone asked me about Sarah's health and I told about our appointment that day and how impressed I was with the cardiologist. It turned out the cardiologist's wife is one of the leaders of the mommy group and they attend my church. I was right in all my guesses about the type of person he was. That explained his overwhelming peace. I was introduced to his wife and was, once again, overwhelmed with new mommy and exhaustion emotions and started to cry as I thanked her on behalf of her husband for how respectful, open, and caring he was during our appointment.
The echo cardiogram showed that Sarah had a normal and healthy heart. No signs of damage.
Saturday, March 28, 2009
The Chest X-ray
September, 2008
The overlap in insurance left us with some decisions about whether to take Sarah to her cardiologist appointment set up through the "old" insurance because we were still covered and the appointment had already been approved to be paid for. The Kaiser Metabolic doctor advised that we get everything done through Kaiser so that they could get the test results. So I canceled our cardiologist appointment and waited for Kaiser to tell me when to go to their pediatric cardiologist.
I grew impatient and wondered if I had made the right decision in cancelling the appointment. Then I was called by the "old" insurance and informed that we were approved for the chest X-ray. We just need to go to the children's hospital in our county and they would already have the request permitting the test. Based on my regret for not following through with the other appointment, I decided to take Sarah to get the chest X-ray done. Jon came with us because he was on a vacation break from his year-round school. We were asked a few times why the X-ray had been requested and we did not know the answer other than it was to give us more information about her heart.
The nurse asked if we had ever seen a chest X-ray done on a small child before. We had not. She warned that it looks much worse than it really is and that the process cuts back on needing to do multiple X-rays because the child cannot move in the restraint system that is used. They strapped Sarah vertically into a clear tube like contraption. Her legs were straddling a bar and Jon had to stand holding her arms above her head. Sarah screamed. She did not like this at all. It didn't look comfortable at all!
When it was all done, I was frustrated with not knowing the need for this traumatic experience and what this would reveal to help discover if Sarah really has CPT II. I decided that I could not dwell on what we had put Sarah through. I had made the choice to go and it was done so there was nothing left to worry about.
The overlap in insurance left us with some decisions about whether to take Sarah to her cardiologist appointment set up through the "old" insurance because we were still covered and the appointment had already been approved to be paid for. The Kaiser Metabolic doctor advised that we get everything done through Kaiser so that they could get the test results. So I canceled our cardiologist appointment and waited for Kaiser to tell me when to go to their pediatric cardiologist.
I grew impatient and wondered if I had made the right decision in cancelling the appointment. Then I was called by the "old" insurance and informed that we were approved for the chest X-ray. We just need to go to the children's hospital in our county and they would already have the request permitting the test. Based on my regret for not following through with the other appointment, I decided to take Sarah to get the chest X-ray done. Jon came with us because he was on a vacation break from his year-round school. We were asked a few times why the X-ray had been requested and we did not know the answer other than it was to give us more information about her heart.
The nurse asked if we had ever seen a chest X-ray done on a small child before. We had not. She warned that it looks much worse than it really is and that the process cuts back on needing to do multiple X-rays because the child cannot move in the restraint system that is used. They strapped Sarah vertically into a clear tube like contraption. Her legs were straddling a bar and Jon had to stand holding her arms above her head. Sarah screamed. She did not like this at all. It didn't look comfortable at all!
When it was all done, I was frustrated with not knowing the need for this traumatic experience and what this would reveal to help discover if Sarah really has CPT II. I decided that I could not dwell on what we had put Sarah through. I had made the choice to go and it was done so there was nothing left to worry about.
Friday, March 27, 2009
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.
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.
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.
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.
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.
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.
Thursday, March 26, 2009
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
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.
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.
Wednesday, March 18, 2009
The Elixir
August, 2008
At our first appointment at the metabolic clinic, the dietitian gave me a recipe for the mixture we were to feed Sarah so she could be on a low-fat diet. The mixture wasn't a formula, so we couldn't call it formula. We called in a few things that first week but we finally ended up calling it The Elixir.
The Elixir Recipe:
Breastmilk - 150 ml
Polycose - 50 gm
ProViMin - 10 gm (requires a prescription; she said that some parents find making it a paste with a small amount of water helped it mix better - and she gestured with her hand like making it a paste in the palm of your hand)
MCT Oil - 7 ml (breaks down plastic)
add water to make a total of 16 ounces (she said boil tap water to purify it)
Along with the recipe we were provided with printouts of where, online, we could purchase the needed elements. The dietitian provided us with a scale, 4 or 5 plastic syringes, and a triangular shaped plastic beaker. We were told that the MCT oil breaks down plastic so we would need to throw a syringe away when we noticed the numbers wearing off, and yet that it was OK to store the elixir in plastic containers in the refrigerator for up to 24 hours (we later found out this was not true).
I left our appointment thinking that if I didn't care for my baby correctly, as specified, she could die or have a toxic build-up of fat in her cells. This created in me an urgency to try to purchase and receive these elements and all that was needed as quickly as possible.
It was difficult to not be anxious during the 4-5 days while waiting for all the stuff to arrive at our house. I would try to wake Sarah every 3 hours to feed her but many times she just wanted to sleep and was difficult to get to feed. I would get stressed out because she wasn't eating and maybe she was lethargic but it just seemed to me like she was normal baby tired. I didn't know how to tell the difference. Not knowing, stressed me out more.
When the elements finally did arrive, I had to start pumping my breast milk so it could be added to the mixture. Luckily, I was overflowing with breast milk so expressing my milk wasn't difficult.
The first time Jonathan and I tried to make the elixir, it ended with me crying because the elixir was so bubbly and clumpy it didn't seem like a mixture and Jonathan angry that the dietitian didn't know what she was talking about because her instructions seemed impossible. Making the ProViMin into a paste in your hand and transferring it to the mixing container was impossible. The triangular beaker was difficult to whisk in because of the corners. The more you whisked the mixture, the more bubbly it became. All this topped with exhaustion and thinking our daughter could die if we didn't get this right, made our first experience disappointing.
Jonathan was terrific and pressed on to try to figure out a solution so that the elixir seemed edible, well, drinkable. Luckily the nipple of the bottles prevented big chunks to get through so Sarah never choked on the elixir. There did seem to be a sludge left at the bottom of the bottle after Sarah had finished eating. The elixir also smelt bad and caused even worse smelling spit-up.
Secret to making the elixir:
It took us about three months until we figured out that if you mixed the dry Polycose powder and the dry ProViMin in the mixing container before adding the liquid, the mixture was much less clumpy. When liquid was added, it helped to add just a small amount at first and make the Polycose/ProViMin mixture into a paste in the mixing container before adding the rest of the liquid.
At our first appointment at the metabolic clinic, the dietitian gave me a recipe for the mixture we were to feed Sarah so she could be on a low-fat diet. The mixture wasn't a formula, so we couldn't call it formula. We called in a few things that first week but we finally ended up calling it The Elixir.
The Elixir Recipe:
Breastmilk - 150 ml
Polycose - 50 gm
ProViMin - 10 gm (requires a prescription; she said that some parents find making it a paste with a small amount of water helped it mix better - and she gestured with her hand like making it a paste in the palm of your hand)
MCT Oil - 7 ml (breaks down plastic)
add water to make a total of 16 ounces (she said boil tap water to purify it)
Along with the recipe we were provided with printouts of where, online, we could purchase the needed elements. The dietitian provided us with a scale, 4 or 5 plastic syringes, and a triangular shaped plastic beaker. We were told that the MCT oil breaks down plastic so we would need to throw a syringe away when we noticed the numbers wearing off, and yet that it was OK to store the elixir in plastic containers in the refrigerator for up to 24 hours (we later found out this was not true).
I left our appointment thinking that if I didn't care for my baby correctly, as specified, she could die or have a toxic build-up of fat in her cells. This created in me an urgency to try to purchase and receive these elements and all that was needed as quickly as possible.
It was difficult to not be anxious during the 4-5 days while waiting for all the stuff to arrive at our house. I would try to wake Sarah every 3 hours to feed her but many times she just wanted to sleep and was difficult to get to feed. I would get stressed out because she wasn't eating and maybe she was lethargic but it just seemed to me like she was normal baby tired. I didn't know how to tell the difference. Not knowing, stressed me out more.
When the elements finally did arrive, I had to start pumping my breast milk so it could be added to the mixture. Luckily, I was overflowing with breast milk so expressing my milk wasn't difficult.
The first time Jonathan and I tried to make the elixir, it ended with me crying because the elixir was so bubbly and clumpy it didn't seem like a mixture and Jonathan angry that the dietitian didn't know what she was talking about because her instructions seemed impossible. Making the ProViMin into a paste in your hand and transferring it to the mixing container was impossible. The triangular beaker was difficult to whisk in because of the corners. The more you whisked the mixture, the more bubbly it became. All this topped with exhaustion and thinking our daughter could die if we didn't get this right, made our first experience disappointing.
Jonathan was terrific and pressed on to try to figure out a solution so that the elixir seemed edible, well, drinkable. Luckily the nipple of the bottles prevented big chunks to get through so Sarah never choked on the elixir. There did seem to be a sludge left at the bottom of the bottle after Sarah had finished eating. The elixir also smelt bad and caused even worse smelling spit-up.
Secret to making the elixir:
It took us about three months until we figured out that if you mixed the dry Polycose powder and the dry ProViMin in the mixing container before adding the liquid, the mixture was much less clumpy. When liquid was added, it helped to add just a small amount at first and make the Polycose/ProViMin mixture into a paste in the mixing container before adding the rest of the liquid.
Sunday, March 15, 2009
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).
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.
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.
Monday, March 2, 2009
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.
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.
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