I happened upon some data on the the National Newborn Screening Information System website ( http://www2.uthscsa.edu/nnsis/ )which I had already been made aware of by my wonderful father-in-law but just now realized what some of the information means.
In 2008, 3,338,284 newborns in the United States were screened for CPT II. Of those newborns there is only one confirmed case. The data that I just realized is the category "Newborns presumed with condition." There are 163 in this category and 48 of those are in California. http://www2.uthscsa.edu/nnsis/ReportTotalScreenResults.cfm?testgroup=F&testid=F2&grouplevel=D&typegroup=0
This means there are 162 other babies in the country in the same situation as Sarah. These families with newborns presumed to have the condition are treating there child as though they have a disorder to prevent anything bad from happening but at the same time fearing the day their child will go into crisis yet knowing that this will be the only way to prove their child has CPT II. (I realize that some doctors choose not to treat these kids depending on what their blood levels were so this last paragraph was me speculating - I at least know this is the situation we are in).
I looked at other disorders to see if they had similar information. Cystic Fibrosis 6,442 are presumed to have the condition but only 393 were confirmed. Wow.
This is not ok.
Thursday, April 23, 2009
Tuesday, April 21, 2009
Is it Denial or is it Hope?
It seemed like ever since Sarah was born medical people have been treating Sarah like she isn't a "normal" baby. This may have been a blessing considering she was being fed every three hours in the NICU because of jaundice. This was before the Newborn Screening results were known. If she truly has CPT II this treatment and concern was to Sarah's benefit.
When I look at her, I realize there is a possibility that something is mutated on her DNA but it just doesn't feel like we truly have anything to worry about. I get frustrated that we are treating her based on fear of the possibility. Yet, if we don't treat her, something could go wrong and then we would feel horrible for not treating her while knowing there was a chance something bad could happen. If she doesn't have CPT II and we are treating her as though she does have it, then: she will not get a good night's sleep until we can give her corn syrup before bedtime; she will not be fed foods (like avocado) with "good fat" for brain development or just plain yummy foods like olives and cheese; and she is being given carnitine three times a day and this is not natural and seems like it would hinder her body from properly producing or recycling (whatever the biochemistry of carnitine is) carnitine in the future (disclaimer: the last statement is not backed by any scientific or medical evidence, it is just a possibility that I have wondered about). I don't like the possibility that we are hindering her development because we are living in fear.
When I look at her, I realize there is a possibility that something is mutated on her DNA but it just doesn't feel like we truly have anything to worry about. I get frustrated that we are treating her based on fear of the possibility. Yet, if we don't treat her, something could go wrong and then we would feel horrible for not treating her while knowing there was a chance something bad could happen. If she doesn't have CPT II and we are treating her as though she does have it, then: she will not get a good night's sleep until we can give her corn syrup before bedtime; she will not be fed foods (like avocado) with "good fat" for brain development or just plain yummy foods like olives and cheese; and she is being given carnitine three times a day and this is not natural and seems like it would hinder her body from properly producing or recycling (whatever the biochemistry of carnitine is) carnitine in the future (disclaimer: the last statement is not backed by any scientific or medical evidence, it is just a possibility that I have wondered about). I don't like the possibility that we are hindering her development because we are living in fear.
I am very aware that I may be in denial. I don't think I am (haha, double denial). I am simply a mother that wants the best for my daughter. I want proof. Show me evidence that confirms or refutes whether Sarah has CPT II. A diagnosis of "Presumptive CPT II" is not acceptable in my book. This tells me there is still hope that she does not have CPT II. For Sarah's sake, I will treat her as though she has CPT II realizing that there are negative consequences and yet I refuse to ignore the hope and possibility that she doesn't have CPT II and is a "normal" baby.
Here is something I posted to the FOD support group on October 8, 2008:
"I am new to this whole FOD experience and this has been my experience with questions (this is me venting also :~) ). My baby is almost 3 months old. I find it awkward when people I meet ask about how well she sleeps or if I am breastfeeding or bottle feeding. I'm still trying to figure out the best way to respond. How much information should I disclose? It feels like when people ask "How are you?" and if things aren't going well they really don't want to know. I have found saying, "She is a good sleeper." is the easiest and it is true. For the feeding question we just say we are breastfeeding and bottle feeding. If people probe more then I try to explain, what I understand, about Sarah's FOD.
I get the "Will she grow out of this?" question a lot. Also, they comment that she looks so normal or healthy that they can't imagine anything could be wrong with her. I have had two people respond to her like she was mentally disabled or that she would act abnormal because of their misunderstanding of her genetic disorder. In both cases I tried to respond with grace and did not make a big deal out of their treatment. Although as Sarah gets older, if similar situations happen, I will need to correct their misconception.
I am trying to treat her like a "normal" baby. My doctor even said she is a "normal" baby. This gets confusing for me though because she really isn't "normal" because we must have her on a low fat diet, give her carnitine, and make sure she doesn't sleep for more than 5 hours. The doctor says that when she is ill or not eating is when we need to worry. So far, she has seemed like a normal baby to me. How will I know if something is going wrong with her muscles or heart? How much information do I need to disclose if I am leaving her (already well feed) for an hour and a half in the nursery at church?
When my husband and I got married many people commented that we would have beautiful babies because we had such great genes. I find it ironic now, considering how rare this disorder is, that it just so happens my husband and I must be carriers. She is a beautiful baby though. :~)
Lisa
mother of Sarah, presumptive CPT II"
The last picture was taken by the fabulous photographer Becky Fisher - http://www.beckyfisherphotography.com/Home.html
"I am new to this whole FOD experience and this has been my experience with questions (this is me venting also :~) ). My baby is almost 3 months old. I find it awkward when people I meet ask about how well she sleeps or if I am breastfeeding or bottle feeding. I'm still trying to figure out the best way to respond. How much information should I disclose? It feels like when people ask "How are you?" and if things aren't going well they really don't want to know. I have found saying, "She is a good sleeper." is the easiest and it is true. For the feeding question we just say we are breastfeeding and bottle feeding. If people probe more then I try to explain, what I understand, about Sarah's FOD.
I get the "Will she grow out of this?" question a lot. Also, they comment that she looks so normal or healthy that they can't imagine anything could be wrong with her. I have had two people respond to her like she was mentally disabled or that she would act abnormal because of their misunderstanding of her genetic disorder. In both cases I tried to respond with grace and did not make a big deal out of their treatment. Although as Sarah gets older, if similar situations happen, I will need to correct their misconception.
I am trying to treat her like a "normal" baby. My doctor even said she is a "normal" baby. This gets confusing for me though because she really isn't "normal" because we must have her on a low fat diet, give her carnitine, and make sure she doesn't sleep for more than 5 hours. The doctor says that when she is ill or not eating is when we need to worry. So far, she has seemed like a normal baby to me. How will I know if something is going wrong with her muscles or heart? How much information do I need to disclose if I am leaving her (already well feed) for an hour and a half in the nursery at church?
When my husband and I got married many people commented that we would have beautiful babies because we had such great genes. I find it ironic now, considering how rare this disorder is, that it just so happens my husband and I must be carriers. She is a beautiful baby though. :~)
Lisa
mother of Sarah, presumptive CPT II"
I didn't post these pictures on the FOD site but I'd like to show off how cute my kid is. :~)
The last picture was taken by the fabulous photographer Becky Fisher - http://www.beckyfisherphotography.com/Home.html
Constipation Frustration
This was something I posted to the FOD site on September 9, 2008. It was my first post to the support group:
"Hello, My daughter is 2 months old and was flagged by the newborn screening as possibly having CPT2. We are feeding her a mixture (we call it "the elixir") of 50 grams Polycose, 10 grams ProViMin, 7 mL MCT oil, and water to make 11 ounces. One feeding we give her the elixir and then within 3-4 hours later I breastfeed, that is our pattern. Anyways, I think the elixir makes my daughter constipated. I'm thinking maybe it has to do with the type of iron in the ProViMin. On the elixir diet she can go 1-2 days without having a bowel movement. When I breastfeed alone she has a bowel movement basically every time she feeds or frequently throughout the day. Twice we have taken her off the elixir diet and just breastfeed for 2-3 days and after about a day she becomes regular again. When I have mentioned this to doctors and dietitians they either seem to ignore my concern or claim the elixir can't do that and recommend I ask my pediatrician. Considering I can't feed her just breast milk for fear of what too many long-chain fatty acids might do to her, we just feel like we have no options. I will follow the dietitians advice and ask my pediatrician at her appointment on Monday.
Anyone notice a similar problem or have have any thoughts about my hypothesis?"
When I asked her pediatrician, he said that a normal baby can have 1 bowel movement after every breastfeeding or they could go up to 7 days without a bowel movement (seems like too long in between for my comfort level). He said what matters is the consistency of the poop. If it is really dry and hard then that means Sarah is constipated. I stopped worrying then because the consistency was good. About a month or two after this post on the support group, Sarah seemed to have regular bowel movements.
*I wonder how Sarah will react when she is older if we ever tell her that I discussed her bowel movements on the Internet. :~)
This is a picture of the look Sarah would make when she was pooping. We called it "Blue Steel."
"Hello, My daughter is 2 months old and was flagged by the newborn screening as possibly having CPT2. We are feeding her a mixture (we call it "the elixir") of 50 grams Polycose, 10 grams ProViMin, 7 mL MCT oil, and water to make 11 ounces. One feeding we give her the elixir and then within 3-4 hours later I breastfeed, that is our pattern. Anyways, I think the elixir makes my daughter constipated. I'm thinking maybe it has to do with the type of iron in the ProViMin. On the elixir diet she can go 1-2 days without having a bowel movement. When I breastfeed alone she has a bowel movement basically every time she feeds or frequently throughout the day. Twice we have taken her off the elixir diet and just breastfeed for 2-3 days and after about a day she becomes regular again. When I have mentioned this to doctors and dietitians they either seem to ignore my concern or claim the elixir can't do that and recommend I ask my pediatrician. Considering I can't feed her just breast milk for fear of what too many long-chain fatty acids might do to her, we just feel like we have no options. I will follow the dietitians advice and ask my pediatrician at her appointment on Monday.
Anyone notice a similar problem or have have any thoughts about my hypothesis?"
When I asked her pediatrician, he said that a normal baby can have 1 bowel movement after every breastfeeding or they could go up to 7 days without a bowel movement (seems like too long in between for my comfort level). He said what matters is the consistency of the poop. If it is really dry and hard then that means Sarah is constipated. I stopped worrying then because the consistency was good. About a month or two after this post on the support group, Sarah seemed to have regular bowel movements.
*I wonder how Sarah will react when she is older if we ever tell her that I discussed her bowel movements on the Internet. :~)
This is a picture of the look Sarah would make when she was pooping. We called it "Blue Steel."
FOD Family Support Group
September 2008
My father-in-law had mentioned that there was an online support group for people or family members of people with fatty oxidation disorders (FOD). CPT II is considered a fatty oxidation disorder. In September after the doctor labeled Sarah as having CPT II, I joined the support group.
http://groups.google.com/group/FODsupport
I also joined a group specific for CPT II.
http://groups.google.com/group/CPT2?lnk=
It is a great way to discuss issues involving treatment and diet and to learn about what other parents are dealing with.
My father-in-law had mentioned that there was an online support group for people or family members of people with fatty oxidation disorders (FOD). CPT II is considered a fatty oxidation disorder. In September after the doctor labeled Sarah as having CPT II, I joined the support group.
http://groups.google.com/group/FODsupport
I also joined a group specific for CPT II.
http://groups.google.com/group/CPT2?lnk=
It is a great way to discuss issues involving treatment and diet and to learn about what other parents are dealing with.
Saturday, March 28, 2009
The Cardiologist
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.
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.
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.
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