Thankful

Well, I can now honestly say that I am thankful for how I developed as a person and mother because of our whole journey with Sarah's NBS and CPT II scare.  It didn't seem to hinder or harm Sarah in any way.  I didn't enjoy the extra worries and less sleep that occured.  I wouldn't wish this journey upon anyone, but I am thankful for how much stronger it has made my faith and the bond between my husband and me.

Sarah is Smart (this isn't meant in a bragging way)

A few nights ago, as I was praying over Sarah, I realized one of my deep fears through all of the whole CPT II possibility and treatment. My fear was that she wouldn't develop properly because she wasn't getting the fats she needed. Basically, I was afraid that she wouldn't be as smart as she could be or that her brain wouldn't develop correctly. (That's why I was trying to find ways to be allowed to feed her avocado. That was me trying to control things.)

During our night night routine prayer, I was thanking God for how smart Sarah is and for the joy she brings to our lives and I was overcome with emotion as I realized that God had answered my prayers. My prayer was that God would keep her safe while we treated her and that she would develop normally.

Trust in the Lord with all your heart and lean not on your own understanding, in all your ways acknowledge Him, and He will make your paths straight. Proverbs 3:5-6

Breastfeeding

The time has come to wean Sarah off breastfeeding. This is actually rather abrupt due to the requirement of myself needing to start medication to kill tuberculosis (it's currently dormant so I'm not contageous). Jonathan reminded me of some of the breasfeeding ups and downs we've had during these last 13 months or so. I realized I hadn't documented any of my breastfeeding woes and successes.

I did mention that after Sarah was born she seemed to latch on fine but that due to jaundice there were expectations that Sarah would feed often and quickly and she just didn't seem to want to be on that schedule. During our stay in the hospital the three days after she was born my focus was feeding Sarah. She was in the NICU so I was unable to practice changing her diapers, putting her to sleep, soothing her when/if she was upset, etc.

When we brought Sarah home, that first night was long (it's embarassingly comical now). I was basically irrational and super paranoid of harming her. Everytime I tried to put her down while she was sleeping, she would wake up. I ended up sitting in our recliner holding her the whole night. I wouldn't let myself go to sleep because of all the warnings that you could smother/kill your child if you sleep with them. I realized that in the NICU I never got to practice swaddling her and putting her to sleep because the nurses did that. Sarah always seemed more than willing to sleep in her little warming bed in the NICU. I decided that because I was having no luck putting her down to sleep I would just stay awake until the morning while holding my sleeping baby and then I would have my in-laws watch her while I slept. During this time the easiest thing was the breastfeeding. My milk seemed to have come in and I realized this was the only thing I practiced while in the hospital with her.

When she was a few weeks old, the metabolic doctors basically said my breastmilk contains the fat that could (in layman's terms) poison her cells and cause her to stop functoning and die if she has the disorder that she was flagged as possbly having by the NBS. I was told to stop breastfeeding and feed her the elixir. The elixir included some long-chain fats because the human brain requires it for development. Instead of using formula in the elixir I pumped, or expressed, my milk so as to keep my milk supply flowing because I was determined to breastfeed and I wanted to be able to still breastfeed if Sarah's NBS was a false-positive. I stored up lots of breastmilk in those days. Our freezer was stuffed with breastmilk (an overstatement, but it felt that way when the occasional solid bag of breastmilk would fall out on us when we opened the freezer door).

It was during this time that I had some emotional breakdowns because at that point breastfeeding was my most confident area of parenting. That was the thing I had down, and I felt like I was being robbed of it. I remember in particular watching the "First 5" video on basic infant care that was given to us when we left the hospital. Phylicia Rashad (the mom from the Cosby show) was on the video talking about the benefits of breastfeeding and how breastmilk was the best thing for your baby - I broke down because of the thought that my breastmilk could kill Sarah and it wasn't the best thing for her.

There was another time when Sarah was upset and I knew that breastfeeding her would calm her down, but I knew that I wasn't supposed to. It was during the time when I was supposed to alternate between breastfeeding and bottle feeding her elixir.  I can't remember exactly what the issue was but I was extremely upset and it ended with Jonathan just talking me into breastfeeding Sarah and it calmed both of us, Sarah and me, down.  I think it had to do with me once again fearing that by breastfeeding her, it could kill her, but feeling that breastfeeding was exactly what I was supposed to be doing. 

Due to the requirement that Sarah needed to eat every three hours and, later in her first year of life, every five hours, there were some stressful experiences when she just wasn't wanting to eat and so I would fight with her to eat.  The "fighting" looked like me basically trying to get my boob in her mouth and coaxing her to suck all the while she is flailing her limbs and turning her head away from the food source.  Those times usually ended with me giving up and figuring that she had enough energy to survive a little bit longer and I would just be aware that at the first sign of hunger she needed to be fed.  There were other times when she would bite me and so the breastfeeding session would end prematurely in order to teach her that biting her food source was unacceptable.

Through many of these situations I learned the importance of handing over my anxiety to God and asking for peace unless I needed to be worried.  My trust in God increased greatly during this time.  I learned that I had little control.

Our last breastfeeding sessions took place after Jonathan and I confidently felt that Sarah didn't have CPT II so I was feeding on demand (as opposed to scheduled feedings).  The last two days included about 4-6 relaxing and beautiful times of breastfeeding.  Our routine included Sarah twirling my hair in her fingers while we looked at each other, and often she would fall asleep.  I've heard some people talk about breastfeeding as though they LOVED it and found it extremely spiritual, I am not one of those people but I enjoyed that it was something special that Sarah and I shared together and it connected us.     

What's Different Now?

The process of taking Sarah off treatment has been easy in some ways and in other ways it required adjusting our schedule.

Allowing her to sleep through the night has influenced the time she wakes up and her nap schedule. When I would feed her during the night, she would usually sleep-drink her 2am bottle and 7am bottle and then sleep until 9 or 9:30am. Now she is waking anytime between 6:30 and 8:30am. She is also taking two longer naps during the day.

Stopping the carnitine was easy. Sarah quite enjoyed the carnitine as she got older. She was a pro at taking it with her bottles. I regret not documenting it on video. I did try to take some pictures of her one day when she was sucking on her carnitine syringe.

I've noticed her urine smells differently now. I always thought her urine smelled weird, not fishy like some people complain of when they are taking carnitine supplements but it was distinct. Now it smells less distinct.

She seems to be adjusting fine to the whole milk mixed with her Lipistart. At first she was drinking less of her bottles but now she is drinking as much as usual.

Take Care of Ourselves Also

During all this time of caring and focusing on Sarah, we (my husband and I) apparently were unaware of our own health issues.

According to a doctor, my chest x-ray showed that I had tuberculosis (TB). It's dormant now but I had it in the past. Considering I was a teacher before having Sarah, I got TB tests every few years. Four years ago, my TB test was negative. So, within the last four years, I had TB. I don't remember ever being very ill in those last 4 years. The other weird thing is that none of my family members that have been tested have/had it. Sarah and Jonathan tested negative. I am confused as to how I could have TB and Jonathan didn't get it, but I am taking the medication for the next nine months even though it doesn't make sense.

Jonathan apparently has some kidney issues that the doctors can't figure out as of right now.

Family and friends have joked that we were so focused on caring for Sarah that we forgot to take care of ourselves.

One thing all of this has confirmed is to never go into a doctor's appointment thinking everything is OK. Go into appointments knowing anything is possible, hopefully it's OK.

One Month of "Normalness"

Well, we have survived more than one month of "normalness" and Sarah seems fine. We decided that the falling asleep during lunch was normal because she hadn't napped yet and she woke up fine. We also suspect that she might be teething.

I recieved a call from the metabolic clinic that Sarah's first carnitine blood test, taken a month after we stopped giving her carnitine suplements, started letting her sleep through the night and feeding her whole milk, showed her carnitine levels were in the normal range. This is a very good evidence.

We are still awaiting her enzyme assay results.

Seed of Doubt

The last two days Sarah has fallen asleep during lunch. I know this happens sometimes, I remember a pic of me asleep in my spaghetti. I didn't think much about it except that maybe I need to start feeding her earlier so she is ready to nap when she has been getting tired lately. Then my wise husband pointed out that we should be aware of the possible connection between her being really sleepy at this time and CPT II. A friend of ours was eating with us and said he was wondering if there was a connection between the two also.

Is this lethargy or normal sleepy?

Ah man . . . this started the whole process of trying to be aware but not worry about it. The whole time she slept uninterrupted (we cleaned her up, put clothes on her, transported her to a birthday party where she continued to sleep) I could feel myself dreading the possible need to rush her to the hospital. She woke up happy, normal, and well rested. She proceeded to enjoy the rest of the birthday party (it turns out Sarah and the birthday girl both woke at about the same time so no festivities were missed).

We'll see tomorrow if she falls asleep during lunchtime.

Doin' Fine

Sarah is doing just fine. We haven't seen any signs that she may have CPT II (this doesn't mean she doesn't have it, because kids can seem fine yet still have it - I say this just to keep myself in reality). She has been sleeping most of the night and waking up happy.

Today she signed that she wanted to eat please and I walked with her to the fridge and asked her what she wanted to eat. She pointed to the 2% milk grated cheese and got excited. I let her have some. We haven't really ever given her much grated cheese before. It was fun to give her what she asked for and not feel like I might be doing something detrimental to her.

Sometime in the next week or so we will need to go in to the lab to get Some of Sarah's blood drawn to check her carnitine levels to make sure they are in the normal range still.

Praise God for this time and that Sarah is healthy.

THE PRESIDENT'S COUNCIL ON BIOETHICS

THE CHANGING MORAL FOCUS OF NEWBORN SCREENING: AN ETHICAL ANALYSIS BY THE PRESIDENT'S COUNCIL ON BIOETHICS
The President's Council on BioethicsWashington, D.C., December 2008


This was a very interesting read considering the situation we found ourselves in with the birth of Sarah, her Newborn Screening results, and the whirlwind of emotions, biochemistry, and medical interventions that occured following the revelation of her results.

Evidence Proving What We Have Thought All Along

This post is long overdo:

We have been gathering evidence (mentally and on paper when we can) to confirm or refute that Sarah has CPT II.

We went to the metabolic doctor at the end of July and the doctor said that she had reviewed all of Sarah's test results and restated our thoughts that we have had since this ordeal started. Her first 3 blood tests were borderline and all following tests, DNA and blood, returned normal. So she brought up the ideas of letting Sarah sleep through the night, stop giving her carnitine, and wean whole milk into her diet. Basically, start treating her like a "normal" child and see how she reacts. Sarah got blood drawn that day for an enzyme assay and we are still awaiting those results. She will be getting blood drawn at the end of this month and the next to test her carnitine levels to see if they are remaining in the "normal" zone.

Sarah is now sleeping through the night and waking up active and cheerful when we get her out of her crib when she awakes. We are still trying to keep her diet low fat for now but we have let her try some new things (without feeling guilty) like hamburger, hot dog, and some food when we are at restaurants. She seems like a normal kid. No behavioral or physical differences.

Praise God!!!!!!!!!!

Then, on Aug. 4th, I received an email from a research study that I had sent some of Sarah's blood to. This email said that based on their research study tests (blood and full DNA screening) it looks that Sarah doesn't have CPT II. There were disclaimers warning that diagnostic testing should be done outside of this research study, but still, it is more evidence proving what we have thought all along.

Praise God!!!!!!!!!!

We are curious what the upcoming test results will show and how it might affect our situation. But for now, we are enjoying this time.

Where is God in All of This?

This possible CPT II situation has been an extra challenge to figure out on top of being a first-time parent. I knew becoming a parent would test my faith. I didn't really expect how deeply it would cause me to question my faith. Yet through every step of the way, through all my questioning, there has been a steady peace.

• How does our situation bring God glory?
• "Will you still love me even when things are not what you expect? Will you still trust me?" - God
• Is God still good even when things are more difficult than you expected?
• Psalm 139:13-14, "For You formed my inward parts; You wove me in my mother's womb. I will give thanks to You, for I am fearfully and wonderfully made; Wonderful are Your works, And my soul knows it very well."
  How come some babies are created with bodies that cannot properly process the food that was created to sustain them?
  
  
  "Be anxious for nothing, but in everything by prayer and supplication with thanksgiving let your requests be made known to God." Philippians 4:6

What have I learned through all of this?
My prayers before Sarah was born were often involving giving Sarah over to God and that she would be His child. We asked that God would give us strength and understanding to raise her up to be a woman of God and become the best that she could be. I tend to be a pretty cautious person and a big fear of mine is that I will do something, or not do something, and harm will come from it. With the threat of Sarah having CPT II, it became very evident that I have very little control and that Sarah is God's child given to us to care for while she is here on earth with us. Something could be going wrong internally (and can with any child, CPT II or not, but it just seemed more likely) and we would not know. I learned to trust God more and give Him my anxieties because they were pointless and out of my control. Sarah is just going to live and we will do our best to care for her with whatever needs arise and not stress over things that are out of our control. In this, I have found freedom.

Blessed Be Your Name by Tree63

Blessed be your name
In the land that is plentiful
Where the streams of abundance flow
Blessed be your name

Blessed be your name
When I'm found in the desert place
Though I walk through the wilderness
Blessed be your name

Every blessing you pour out, I turn back to praise
When the darkness closes in, Lord
Still I will say...Blessed be the name of the Lord
Blessed be your name
Blessed be the name of the Lord
Blessed be your glorious name

Blessed be your name
When the sun's shining down on me
When the world's all as it should be
Blessed be your name

Blessed be your name
On the road marked with suffering
Though there's pain in the offering
Blessed be your name

Every blessing you pour out, I turn back to praise
When the darkness closes in, Lord
Still I will say...Blessed be the name of the Lord
Blessed be your name
Blessed be the name of the Lord
Blessed be your glorious name You give and take away
You give and take away
My heart will choose to say
Lord, Blessed be your name



Fool for You by Nicole Nordeman

There are times when faith and common sense do not align
When hard-core evidence of You is hard to find
And I am silenced in the face of argumentative debate
And it's a long hill, it's a lonely climb

'Cause they want proof
They want proof of all these mysteries I claim
'Cause only fools would want to chant a dead man's name
Maybe it's true

But I would be a fool for You
All because You asked me to
A simpleton who's seemingly naive
I do believe You cam and made Yourself a fool for me

I admit that in my darkest hours I've asked, "What if?"
What if we created some kind of man-made faith like this?
Out of good intention or emotional invention
And after life is through, there will be no You

'Cause they want proof of all these miracle I claim
'Cause only fools believe that men can walk on waves
Maybe it's true

Unaware of popularity
Unconcerned with dignity
You made me free
That's proof enough for me

I would be a fool for You
Only if You asked me to
A simpleton who's only thinking of the cause of love
I will speak Jesus' name
And if that makes me crazy, they can call me crazed
I'm happy to be seemingly naive
I do believe You came and made Yourself a fool for me

Response to Our Ethical Quandary

On the Facebook Newborn Screening Awareness group, Brandi made a statement in her reply to our ethical quandary. She said, "a certain percent of false positives are a lot better than one child sufffering a crisis or losing their precious little life." I received a similar response from someone at Savebabies.org.

I have not been thinking of the sacraficial aspect in our situation. If Sarah doesn't have CPT II, then our experience was caused by what level is used to identify babies that are at-risk. If the levels were not set so cautiously, a baby that really has CPT II may not be flagged by the NBS and something bad may happen. In order for many to be saved, a few may sacrifice. (I said "many" because the Expanded Newborn Screening can screen for 50 different genetic disorders. CPT II is very rare.)

The amount of suffering that the NBS prevents outweighs the stress and suffering caused by false positives and maybe/maybe-nots like us. When I'm having my moments of sadness for Sarah and frustration, the sacrifice-for-the-good-of-all-mindset will help me cope.

Sarah Ate Avocado

Avocado is supposed to be a good fat for baby brain development. I haven't been giving Sarah avocado because I know it is basically all fat. The dietician said that Sarah can have 27g of total fat a day.

According to NutritionData.com, a 1 ounce (28g) serving of avocado contains 4g of total fat. I let Sarah eat avocado and I didn't feel guilty about it :~).

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.

Starting Solid Foods

At 5-months-old we started Sarah on solid food. We started with the basic rice cereal. I just mixed it with breast milk or elixir and then later, Lipistart.

Sarah needs to be on a low-fat diet in case she has CPT II. This means no avocado, which is a recommended soft food for "normal" kids because it is good brain food. Other than that, I didn't find many limitations for my choices of solid foods to puree.

Foods Sarah has been introduced to:
rice cereal
oatmeal
peas
carrots
green beans
banana
mango
papaya
applesauce
pears
sweet potatoes
zucchini
sweet corn
peaches
kiwi (no seeds)
cantaloupe
watermelon (seedless)
extra lean turkey
extra lean ground beef
lentils
cauliflower
broccoli


Finger foods:
non-fat Kraft cheese slices
wheat bread pieces (sometimes toasted)
Gerber puffs
Gerber yogurt melts
Cheerios
Rice Krispie cereal
celery sticks for her to chew on
banana slices
mango pieces
pasta noodles
Gerber apple flavored Wagon Wheels

Um . . . Really?

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.

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.

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"

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."

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.

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.

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 Kaiser Metabolic Clinic

September 10th, 2008, 1:30PM

Kerry and I drove Sarah to her first Kaiser metabolic appointment. It was about a 45 minute drive to get there. We had heard the news about her DNA results two days earlier. I had been more lax on following the care directions for Sarah because I thought they were going to tell us that they now thought she most likely didn't have it and so they were going to slowly ween her off the carnitine and elixir to see if her blood levels stayed normal on their own.

When we arrived, Kerry stayed outside. The nurse weighed and measured Sarah and instructed me to put the baby hospital gown on her. I thought it was so cute but I only had my cell phone to take pictures with so they are blurry.

When the doctor entered she looked at the test results that I brought with me from the other clinic. She mentioned that she would ask the people she knew in France about some of Sarah's blood test numbers. The doctor informed me that she spent time in France working with the people that discovered something about CPT II (I think it was either the CPT 2 gene or something about the gene).

I confessed that I had breastfeed Sarah once we heard the news about her DNA testing. The doctor said that my choice was not wise and that I was an ostrich with my head in the ground. She claimed I was in denial about my daughter and her health. She said I should have waited to make such decisions until after I had heard her interpretation of the DNA test. She said I should continue treating Sarah because there is still a chance that she has CPT II even though they could not detect any mutation on her CPT 2 gene.

There was a polymorphism on one strand of her DNA but this variant is not known to cause any disorder. There was a 70% chance that a mutation would be detected and that left a 30% chance that she could still have CPT II because of an unknown mutation. This still confuses me because there were NO mutations found so that must mean if she has CPT II it would be caused by a mutation not found on the CPT 2 gene.

I, at this point, broke down crying. I was expecting good news. I tried to control myself. The doctor and head nurse were not expecting this reaction. They asked me about how we were directed to treat Sarah at the other metabolic clinic. I explained the every three hour feedings and the breast pumping and the carnitine. The doctor said no wonder I started crying when she said to continue treatment. They said they liked to treat a child as naturally as possibly. They said that Sarah should be fed on-demand and could go four hours between feedings if she is sleeping but that when she is awake she will probably want to eat ever three hours anyway.

I spoke with the dietitian over the phone because she was home because of a back injury. She instructed that I should alternate feedings. One feeding should be breastfeeding and then the next a bottle of elixir without breast milk mixed in. This will maintain a low-fat diet but eliminate the hassle of expressing my breast milk.

The doctor diagnosed Sarah saying it was "presumptive CPT II." On all the paperwork it simply states: "Diagnosis:CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY"

They then took a urine sample from Sarah. This was not an easy thing to accomplish. A bag was taped around her urethra and we waited for her to pee. I knew when she was going because urine got on my leg; there was a part of the tape that didn't stick completely.

Before we left to go home, we needed to go to the lab so they could draw more blood from Sarah to test her levels. This time she looked at me as though she couldn't understand why I was letting them do this to her. After, I left holding Sarah tightly as I cried. Apparently Sarah's emotions recuperated quicker than mine because she smiled over my shoulder at Kerry. This helped me feel less badly about my poor pin-cushion baby. I'm so grateful for Sarah's joyful spirit.

DNA Sequencing Results

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

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

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

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

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

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

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.

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.

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).

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.

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.

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.

Sarah's Birth

July, 2008

Sarah was born four days past her due date. I was induced at about seven in the morning and Sarah was born at 1:44pm after about six pushes. Considering childbirth was one of my ultimate fears in life, I was very pleased with my labor and birthing experience. My husband, Jon, was an incredible coach throughout the experience. Shortly after she was born, we tried to get her to latch on to breastfeed and she did. I was relieved because I had heard horror stories from moms about breastfeeding.

That night, my husband was unable to stay at the hospital with me because I was sharing a room with another new mom. He left at 10 P.M. During the night the nurses check all the newborns' weight and vital signs. They discovered that Sarah was jaundice and took her to the NICU. That was a sad moment for me to be alone in the hospital as they wheeled my baby off to the NICU. I was left in a room with another mommy and her crying baby. I knew jaundice was common and so I just tried to rest during the times I wasn't in the NICU trying to nurse. The next day the nurse commented to the lactation specialist that it was odd that Sarah was found to be jaundice within 8 hours of birth. They both reacted like it was unusual for a baby to be jaundice that soon.
In the NICU, I felt a lot of pressure to breastfeed Sarah quickly so that she could be put back under the bilirubin lights. As I learned in the breastfeeding class, newborns don't usually want to eat much during the first few days of life, they want to sleep. Sarah did not want to eat during the times the NICU nurses wanted her to eat. When I asked for help, the nurse held Sarah's face onto the boob. Sarah would cry. When she did latch on it seemed like she would choke or gag. I mentioned this to the nurse and she didn't react as though it was an issue. She didn't seem to listen to me. I felt like the daytime nurses acted as though we were a frustration and inept. The nighttime nurses were more relaxed but still wanted Sarah to be feed and under the bilirubin lights as much as possible.

Due to Sarah's unwillingness to breastfeed when they wanted and to encourage my breastmilk to come in more quickly, I was to express my breastmilk using a breastpump. The first time I pumped, barely anything came out. I set what little colostrum I had on the counter to bring with me when I returned to the NICU. I was told by the nurse to bring the milk to the NICU when I returned the next time.

We had family and friends in our hospital room visiting and I was watching the clock anxiously awaiting when I was to return to see Sarah. As soon as the clock clicked to the time when I was to leave, I got out of bed and said I was going to feed Sarah. I realized later that I didn't even say goodbye. I even left without Jon. I was quite the focused mommy.

When Jon arrived to the NICU he reminded me of the breastmilk. I mentioned to the nurse that I forgot the milk I had pumped and she questioned when I had pumped. As soon as she asked the question, I remembered that the milk needed to be refridgerated right after it was pumped. The little bit of colostrum was wasted. I felt frustrated that I didn't remember the refridgeration rules from the breastfeeding class and that the nurse hadn't mentioned it earlier when instructing me on the pumping procedure.

I focused on the task at hand, feeding Sarah. We tried and tried to get her to latch on, she just didn't seem to be eating enough. Finally, the nurse said that they would need to bottle feed her. Sarah didn't want the bottle. The nurse finally said that Sarah seemed to be having a gag reflex. I was once again frustrated. Now the nurse seemed to care that Sarah was gagging. Since Sarah needed to eat the nurse decided to try putting a tube down her throat. As the nurse tried to put the tube down, I couldn't watch. I just listened as Sarah cried. At that point, I could handle no more and I left.

I walked down the hall towards my room, willing myself not to cry. I kept telling myself to just keep it together until I made it back to my room, which was the last room at the end of the hall. As I entered my room I threw away the colostrum that I had forgotten earlier. I turned towards my bed and as I allowed myself to let my emotions go, a nurse, Joanie, entered my room and happily announced she was here to take my vital signs. I turned and said that I didn't think my blood pressure would be very good right now, then burst into tears. I told her about the milk and the tube and the gagging. She got all teary-eyed with me. I proceeded to say that Sarah was so beautiful and showed her the slideshow Jon and I had made of all the pictures we had from the birth and and other pictures. Later, Joanie came back with a plan so I could get some sleep and get my milk taken over as soon as it was expressed. That was the most emotional time for me and Joanie handled it with empathy and respect.

Jonathan came back to the room and informed me that the tube down Sarah's throat didn't work because she was gagging and they had to put the tube down Sarah's nose. Thankfully, Jon was able to stay that night in the hospital with me because my roommate had left earlier that day. Joanie came in throughout the night and woke me to pump my breastmilk. Before we left the hospital, the on-call pediatrician came in to talk about Sarah. She said that Sarah was a normal baby. That her bilirubin levels were in the normal range but that some of the nurses in the NICU were concerned about Sarah's intake and output (they weighed her diapers). The doctor said babies are created to sleep often while the mother's milk is coming in. She directed the nurses in the NICU to treat Sarah like a normal baby to see if she could function as such. It was refreshing to have someone official confirm our thoughts that other than the jaundice, which is very common, that Sarah was acting like a normal baby.

We had to leave the hospital without Sarah but we had it set up that the NICU nurse would call me as soon as Sarah showed signs of hunger so I could feed on demand. Jon slept at our home because he had to go to work the next day. I slept the night at my mom's house because it was closer to the hospital. I got it so that it would take 15 minutes to wake up to the phone call, drive with my mom to the hospital, enter through the ER (because it was afterhours) and get to the NICU. Sarah fed as she was supposed to.

The next morning I arrived at the hospital determined not to leave without Sarah. She met the requirements to leave the NICU. Due to her being jaundice they wanted her to visit the pediatrician in two days, when she was five-days-old. Sadly, Jon was at work, so Jon's parents, Clark and Kathy, and I took Sarah home.

Sarah was able to come home three days after she was born.