Newborn Screening - Our Ethical Quandary

I have felt that I should share our story on some Newborn Screening sites. This is my rough draft. Do you see anything that should be edited, reworded, or seems inaccurate?


Preface: We have only met one other couple, and they are also from California, who found themselves in a similar situation involving the NBS. I am not against the NBS, because I know it has saved lives, but there are days that I hate the NBS and it gets the blame of my stress and grieving.


In July of 2008, Sarah, our first and, so far, only child, was born. Within 8 hours of her birth, she was jaundice. We were able to take her home three days later. Two days after that (5 days after she was born), we took her to the pediatrician for her general newborn checkup and to see about her jaundice.

When the pediatrician inspected Sarah, he explained that Sarah seemed to be thriving and showed no evident signs that we should be worried. He, then, informed us that while we were in the waiting room, people from the state of California were on the phone and, in his words, yelling at the receptionist because they were unable to inform them of Sarah's status. He explained that Sarah's Newborn Screening flagged her as possibly having one of two metabolic disorders. He left us in the examination room while he contacted them again and went to get us all the information needed for the next step.

The pediatrician tried to find a lab that had experience drawing blood from a newborn. The next day, we got Sarah's blood drawn from her arm. It seemed like so much blood from such a small baby.

The metabolic clinic from our local children's hospital called and informed us that the blood tests were just barely elevated and these were often false/positives. To play it safe, they had us wake Sarah every three hours to feed and started her on carnitine three times a day.

During the time between her pediatrician's appointment and her metabolic appointment, we received some pamphlets in the mail. One of the pamphlets stated, "If a disease is not identified and treated quickly, mental retardation and other serious health problems can occur." This is true and was of no comfort as we waited for our appointment.

2 weeks and 6 days after Sarah's birth we had our first appointment with the metabolic clinic. Based on the 2nd blood test, they narrowed her possible disorder down to CPT II (carnitine palmitoyltransferase 2 deficiency). They did a heel prick blood test in the office and then about an hour after Sarah got more blood drawn at a lab. All of this was done after Sarah had been fasting and I hadn't given her carnitine since the night before about 13-15 hours prior to the blood draws. The heel prick test showed elevated levels and the test from the arm (done second) came back normal. All blood tests since have come back normal.

The doctor has said that the tests should be coming back normal because we are treating her. Her DNA showed no visible mutations and only one heterozygous polymorphism that is not known to cause CPT II. She has shown no physical symptoms of CPT II. At this point, there is apparently no test that will prove that she has or does not have CPT II. Herein lies our ethical quandary, we must play the odds.

Our choices now are:

• Treat Sarah like she has CPT II for fear of the possible chance that the Newborn Screening correctly identified her. The daily treatment of CPT II, compared to what others must deal with to care for their children with disorders, deficiencies, or even allergies, is nothing worthy of complaint. The part I dread is if Sarah gets an sickness/infection or refuses to eat for a certain amount of time, we must rush her to the hospital for IVs. I dread this because if Sarah doesn't have CPT II all of that is completely unnecessary.
  
• Treat Sarah as though she doesn't have CPT II, as though she were an average child with no need for medical intervention. We have decided that this choice actually has the possibility of more fear because of the harm that could incur because of not treating her. Some benefits if she really doesn't have CPT II, she can: sleep through the night, occasionally enjoy fatty treats (ice cream, avocado, birthday cake), not take carnitine, and not live the life of someone with a genetic disorder if she doesn't really need to.

In summary, the newborn screening may have been beneficial because we are treating Sarah like she has CPT II and, praise God, nothing bad has happened, or the newborn screening may have been the cause of a lot of unnecessary stress, doctors' appointments, and unneeded treatment. At this point, there is no way of knowing which is true. It is our prayer that we find evidence confirming or refuting whether Sarah has CPT II so we can live in that truth and enjoy the freedom involved in knowing.

MCT Oil and Plastic

November 2008

When we were told how to make the Elixir mixture the dietitian mentioned that the MCT oil breaks down plastic so we would need to dispose of the plastic syringes after a while of using them to squirt the MCT oil into the Elixir mixture. I asked about what type of container we needed to store the mixture in during the 24 hours it is allowed to sit in the refrigerator. She said for that amount of time a plastic container would be fine. So for about three months we were storing the prepared elixir in plastic containers in the fridge and then using plastic bottles to feed Sarah. From our understanding, according to the dietitian all of this was allowable.

At a certain point people on the FOD online support group were discussing thermoses and what kinds of liquid with MCT oil could be stored in for their child to take to school. I commented about what our dietitian had told us. Someone politely pointed out that because the MCT oil can break down plastic that they didn't think it was safe to store it in plastic at all. This got me questioning whether the dietitian had instructed us correctly.

I decided to contact Nestle (the maker of our MCT oil) directly and ask them what was acceptable. This was their response:

"Lisa, Thank you for your e-mail. The MCT® Oil and formula mixture needs to be stored in glass and fed with non plastic utensils such as a glass bottle. In regards to storing the product in a thermos check with the manufacturer of the thermos as some are stainless steel on the outside but have a different material on the inside. The MCT® Oil and formula mixture needs to be held under refrigeration in accordance with the time limit (24 hrs) as specified by your dietitian. Best wishes from your friends at Nestlé Healthcare Nutrition."

My reaction that I posted on the support group on November 10th, 2008: "Now I'm off to the store to buy glass bottles and containers. I wish I would have clarified this 3 months ago. I'm not even going dwell on the possible damage done to my daughter. And I forgive the dietitian for telling me the wrong information but I think I will call and nicely inform her that, according to the manufacturer, she is telling patients the wrong information."

We ended up needing to stop using all the plastic bottles we had purchased (which were the same Medela [read as "not cheap"] bottles used with the breast pump). Luckily the only glass bottle I could find without plastic parts inside the bottle were Evenflo Classic and you could get a 3 pack for just over $5. If only we had known . . . ah, the money we could have saved [sigh].

Because of our insurance switch, we no longer had the same dietitian. This experience helped to remind me that medical professionals are just people and they don't have all the answers. It's important to check information with the manufacturers. If I have any questions now about things I am giving to Sarah, I call the manufacturers.

Sleep Training

February 2009

With Sarah's feeding requirements of feeding her every 4-5 hours, this means we do not sleep through the night. I was struggling with getting her to go to sleep in her crib. We tried the Ferber method of letting her cry-it-out but it wasn't really working. I decided I must be doing something wrong with how I was trying to sleep train Sarah. I went to the library but they only had a VHS tape called "Your Baby Can Sleep" by Dr. Stuart Tomares M.D. and I decided that could work because I didn't really have time to read a book anyway.

Through this video I realized the things I was doing that were hindering the sleep training. These were:

1. We didn't have a consistent bedtime routine
2. I was laying down to breastfeed her in the middle of the night and often fell asleep with her OR I would have just bottle-fed her and then she would cry and I was so tired that I just brought her into bed with me because she would stop crying.

In order to have a consistent and set night time routine, I would need to feed right before to maximize the length of sleep she was able to get. In order to ensure this, I decided to set up a time schedule for feeding so she would actually eat before bed.

Sarah’s Schedule

2:00AM breastfeeding
7:00AM Lipistart feeding
Lisa gets dressed and ready for the day, quiet time (often, I sleep some more)
9:00AM wake Sarah up if she is still sleeping, feed breakfast
Sarah playtime Lisa does dishes/housework
11:00AM breastfeeding
12:00PM lunch
3:00PM Lipistart feeding
5:00PM dinner
7:00PM breastfeeding
9:00PM Lipistart feeding
put on pajamas and fresh diaper
brush teeth
read book
lullaby
prayer
9:30PM bedtime

This schedule is nice because the middle of the night feeding is always breastfeeding so I don't need to warm a bottle. This means more sleep for me. I just need to ensure that I am involved with something to keep myself awake so that I don't fall asleep with Sarah.

Also, the 7PM feeding helps with adjusting for when the schedule gets a little off during the day. Meaning: 4 hours is the longest we are to let Sarah go between daytime feedings but she may get hungry after only three hours between one set of meals and then the daily schedule is adjusted accordingly the 7PM feeding would move forward but the 9PM is constant for bedtime.

NAPS
With this routine the nap times are whenever she seems tired during the day and/or falls asleep. Some days she has 4 short naps and some days she has 2 longer naps. This sleep guy advises not to worry about the naps because if they are sleeping well at night their naps will work themselves out on their own. We just shouldn't let naps go longer than 2-3 hours.
This has worked with Sarah.

April 2009
It seemed like Sarah wasn't wanting to breastfeed as much as she wanted to eat solid food and drink the bottle. I looked into it and found that having scheduled feedings is not as good as feeding on demand and can increase the likelihood of premature weaning. At about 8-10 months baby's often (from what I found on the Internet on different sites) tend to seem like they are weaning themselves off the breast. The sites encouraged to just keep plugging away and offering the breast.

With this information, I realized the importance of keeping the schedule flexible. I feed on-demand to a certain degree. The 7PM feeding helps with this. Also, I adjust the schedule so that she often eats solid foods a short time after she has breastfed or drank a bottle.

Also, I've realized that she has shown no signs of CPT II and there is a big possibility that she may not have CPT II. With this knowledge, I just don't stress out about feeding her. I've been treating her feedings as though she were an average child. If we are out of the house and she goes past four hours but I know she has had solid foods in between and she is acting perfectly fine, I just stay calm and get to a place where I can prepare for whatever feeding is next.

This all has made life much easier to handle. Praise God.

LipiStart

February 2009

When Sarah was 6-months-old, the dietitian wanted us to try weaning Sarah off the elixir and on to Lipistart. This change was not due to Sarah's age but because Lipistart was a newer product and would be easier to use. The dietitian said that other dietitians that collaborate over the Internet were saying that Lipistart was working really well.

Here are my messages to the dietitian because she wanted to know how things were going:


2-6-2009

"Well, I tried just straight up Lipistart and Sarah ate 3 ozs. and then stopped and started fussing. I tried again with the same results. Then I tried a third time (each time was a different feeding) and she only ate 1 oz. then I mixed it with elixir so it was half and half and she drank most of it. So I am now feeding it to her 1/2 and 1/2 and will slowly increase the Lipistart in the mixture over the next few days and see how she reacts. :~)"

2-11-09

"Today, Sarah "chugged" her first full Lipistart bottle. Yeah! :~) My mom said she seemed gassy afterwards but I am thinking that could be because we just switched her over to the fast flow nipples because it seemed like the Lipistart might not be flowing out of the nipples as easily as the elixir did.

"As to her usual volume question she was drinking the same volume on 1/2 Lipistart and 1/2 elixir. I have noticed that her "usual" is changing some because of the solid food. She is drinking slightly less but not enough of a difference that I got concerned. Her usual now is anywhere between 4-8 ounces at one bottle feeding time. I've found it tricky, at times, to schedule the bottle feedings and solid feedings so that she eats a good amount at each. She seems to really like solid food and on one specific occasion refused her bottle but ate solid food and then drank a small amount to wash it down. I figure we can discuss that more at our appointment on the 24th."


It took us about a week to switch Sarah over to all Lipistart. In regards to the bottle nipples, we switched her back to slow or medium flow. While the Lipistart is thicker in consistency than the elixir, Sarah seems much more gassy on the fast nipples.

Lipistart is much easier than the elixir because Lipistart is just one powder. It's like normal formula just with only medium-chain fats instead of long-chain fats. It contains MCT in powder form and this makes it so we can use plastic bottles, if we want to. We can make the amount of bottles we use in a day (3) and store them in the refrigerator for up to 24 hours. When it is time to feed Sarah we just take out a bottle and warm it up.