After 12 Days of Formula Feeding

Nora does not have galactosemia!!! Yay! Today we are back on breastmilk and off the stinky soy formula.

Back up two Fridays ago, October 10th, we received a call from our pediatrician telling us that the NJ Department of Health and Senior Services's newborn screening for Nora showed her as "presumptive positive" for galactosemia. We were told that the numbers were a bit "funny" because her galactose enzyme level was too low (they only screen for the GALT enzyme, there are actually two other enzymes necessary for galactose metabolism), but her accumulated level of galactose wasn't elevated, which it really should have been if her body wasn't breaking it down. The whole problem with galactosemics is that the unbroken down galactose accumulates and eventually poisons the body. So anyway, the pediatrician referred us to St. Peter's Department of Genetic Diseases for testing on the following Monday.

On that Monday, they take a blood and urine sample, tell us that the results should come in a week or less, and also told us her GALT level was 2.4 according to the state screening, where less than 3.5 was considered positive for galactosemia.

After a lot of bottles and simultaneous pumping (to keep up the breastmilk supply) Carrie called St Peters on Thursday to see if they could do anything to rush the test. They claimed they were going to see, but said it was pretty much in the lab's hands at this time.

So this past Monday comes and we get nothing from St. Peter's, Carrie called and left a message. We didn't get a call back from them.

Tuesday we got a call. The person at St. Peter's called the lab and they ran the wrong test. They needed us to bring Nora back in to take more blood! Their earliest appointment was Thursday. Right. That wasn't going to happen. I was away on a work retreat in Princeton and Carrie was at home with Nora. She directly told them: I'm coming today for you to take the blood and you are going to give me the results tomorrow.

Well, after some back and forth between the staff member and her supervisor, they managed to find time to take the blood yesterday and they overnighted the blood to the Mayo Clinic for the test. (Apparently the other lab that screwed up the first test has screwed things up before and actually had screwed another child's test up at the same time as well. As to why they continue to use that lab, I don't know. Maybe it's part of St. Peter's faith-based medical science.)

This morning the woman from St. Peter's confirmed that Mayo got the blood and would be running the test today. This afternoon, after calling them at 4:15pm, we were able to get them to analyze the results. Nora is fine! Her GALT level was 21! (18+ is considered completely normal.) Tomorrow we should get the genotyping results which will tell us if she's a carrier for one of the galactosemia variants, but that does not affect her body's ability to process galactose.

We're extremely happy. This is absolutely great news. A scare like this, even for a disorder that's fairly innocuous if treated, puts things into perspective. We cannot imagine what people have to go through when their children actually have a disorder that impacts their daily lives markedly more than what we experienced here. It's just insane.

So, in conclusion, we're extremely happy. We do have a few lingering questions:

1. Why did the state screening show her levels so much lower than they actually are? Was the result simply wrong or has her enzyme production since gone up?
2. Why did the pediatrician send us to the St. Peter's genetics department when they just took a blood and urine sample and sent it off for enzyme and sugar tests? They weren't going to do any genetic testing.
3. Why do they continue to use a lab that screws things up? Why do they use a lab that takes over a week to make no progress when we've seen that, when sufficiently motivated, the results can be back in only a day.
4. NJ Dept of Health and Senior Services, what exactly is your problem? I didn't mention this above, but yesterday we received a letter in the mail from them stating that our child tested positive for a genetic disease, included this completely useless flyer, and told us to see the pediatrician for a diagnostic test if we hadn't already. Classic galactosemics who are not treated are dead in two weeks from birth. I have to acknowledge that they did get their (erroneous) screening results to the pediatrician in less than a week, but this mailing to the parent is ridiculously unacceptable.
   

We're so happy that Nora is ok. And we're glad that this medical community exists to help us if things go wrong, but the level of incompetence we've experienced at all levels is just frustrating.

Just hanging out

Not much is going on right now. Well, a lot is going on: eating, sleeping, crying (usually just Nora), and changing diapers! We're still waiting on the results of the follow-up galactosemia test, it'll be one week this Monday and unfortunately "about a week, maybe less" is the only information we got about how long it'll take.

Nora is taking her soy formula just fine now, but we're hoping that she'll be able to return (at least partially) to breastmilk soon. Her initial screening results showed low galactose enzyme (GALT) levels of 2.4 U/gBH but her accumulated galactose levels were normal. NJ considers this to be "presumptive positive" but this is only a screening, it's not diagnostic. At 2.4, Nora's GALT levels are not low enough for her to be considered a classic galactosemic: if anything, she has the duarte variant.

Duarte galactosemics only need to avoid galactose (dairy/breastmilk, some legumes and tomatoes) for the first year of life, and depending on the enzyme activity level, may only need to limit intake, not completely eliminate it. In NJ, the incidence of duarte is 1 in 4,000-5,000, and luckily the only known complications are cataracts, which is much better than what classical galactosemics have to deal with.

But regardless of how this turns out, Nora is absolutely fine. She's doing very well and is already having more and more awake time each day. She's looking around with more intent (looking directly at us and the cats) and keeps holding her head up a lot. She's a lot of work, and having this diagnosis hanging over our heads is just adding to the stress, but she's absolutely wonderful and we love having her around.

Lovebug

Called you for the first time yesterday
Finally found the missin' part of me
I felt so close but you were far away
Left me without anything to say

Now I'm speechless, over the edge, I'm just breathless
I never thought that I'd catch this Lovebug again
Hopeless, head over heels in the moment
I never thought that I'd get hit by this Lovebug again

I can't get your smile out of my mind
(I can't get you out of my mind)
I think about your eyes all the time
You're beautiful but you don't even try
(You don't even, don't even try)
Modesty is just so hard to find

Now I'm speechless, over the edge, I'm just breathless
I never thought that I'd catch this Lovebug again
Hopeless, head over heels in the moment
I never thought that I'd get hit by this Lovebug again

Kissed her for the first time yesterday
Everything I wished that it would be
Suddenly I forgot how to speak
Hopeless, breathless
Baby, can't you see?

Now I'm...

YEAH, OH

Now I'm speechless, over the edge, I'm just breathless
I never thought that I'd catch this Lovebug again
Now I'm hopeless, head over heels in the moment
I never thought that I'd get hit by this Lovebug again

Ohhh
Lovebug again

-- The Jonas Brothers, Lovebug

On a much more serious note...

You really don't know what pain is or what it means to hurt until you receive news that something might be wrong with your child. We found out yesterday that Nora's newborn metabolic screen showed a marker for a genetic condition called galactosemia. I had to stop nursing her right away and we had to switch her to a soy formula.

I think my heart broke into ten thousand pieces, and then shattered into a thousand more. I couldn't even watch Chris give her the bottle. It has been a rough 24 hours coming to terms with the fact that for Nora, right now, the breast isn't the best - in fact, if she does have this condition, the breastmilk would be fatal. I've been crying my eyes out mourning the loss of our nursing relationship, and Chris has been, of course, a pillar of strength while I try to pull myself together and figure out how to come to terms with the fact that everything I learned and thought we would do is completely thrown out the window.

We go on Monday for genetic testing to see if she actually does have the condition. We won't know for 7-10 days what the outcome is. It's going to feel like an eternity. But in the interim, I'm going to keep pumping to keep my supply up as best I can, just in case it was a false positive and she can have breastmilk again.

If she does have the condition, it means she will be on formula and can never have anything with lactose. From the GANES website (http://www.galactosemia.com/galactosemia.html)

"Classic Galactosemia is a rare genetic metabolic disorder inherited through a gene from both parents, who are carriers. Normally, when a person consumes a product containing lactose, such as milk, cheese, or butter, the body breaks the lactose down into the sugars glucose and galactose. Glucose is used by the body for energy, while galactose is converted into usable glucose. In galactosemia, the enzyme that converts galactose into glucose is missing. An excess of galactose accumulates in the blood. The build-up of galactose is a poison to the body, and can cause serious complications such as enlarged liver, kidney failure, cataracts, and brain damage."

I would like to just throw this out there - you can never truly judge someone for what they do until you know their story. I always looked at women who fed their babies formula with digust. I couldn't understand why anyone would choose to give their baby an inferior product. I never took a moment to realize that maybe that woman doesn't have a choice. Maybe that formula is the best choice for her baby and for her family.

Similarly, after giving birth to Nora, I completely stopped looking down on women for getting epidurals. Previously, I thought those women were all weak - how could you do that and not want to experience childbirth? Well, now that I've experienced it for myself, I can totally see why -- and I cannot believe that I was so judgemental and short sighted.

Please keep Nora, Chris, and I in your thoughts.

Nora is now 8 days old! We cannot believe how fast this week went by. Monday started out with her first trip out to see the pediatrician.


Everything went well except the doctor felt she was a little too jaundiced. So we had to trek over to St. Peter's Hospital to have her bilirubin levels checked. If they were too high (over 17) then she would have to be admitted to the hospital and we really did not want that. After being so successful with the homebirth and having everything go so well, we didn't want anything to be wrong with our sweetie. Her level was just shy at 16.1, so we did have to go back the next day, Tuesday, to have them checked again. Luckily, they came back at 14.1, so we no longer had to go back for checks after that. Nora is looking much less yellow now and is doing fantastic!

We've sort of gotten our routine established now, and things are going pretty well! Nights really aren't that bad. Nora is a champion sleeper, just like her Mama! She sleeps for 2-4 hours at a time, even at night, which is really nice. She wakes to eat 2 or 3 times and then goes right back to sleep.

We've started using our cloth diapers and we absolutely LOVE them! They are truly impressive. It's funny, I actually really like using the Kissaluvs with the snaps and Chris likes the prefolds, which is the opposite of what people usually say! Usually Dads like the "easier" ones, but the way it's working out, I like the easier ones, and Chris likes the simplicity of the prefolds! Either way, they work wonderfully and I feel so much better using them instead of disposables that end up in landfills forever.

What else...?

Nora loves to sleep on Daddy's chest -- she is such a cuddle-bug! Here are some pics of her being her sweet self with Daddy...






We will update again soon!

Love,
Carrie, Chris, and Nora

Pictures of our Princess!

Okay guys, get ready for cuteness overload! We got some great shots of Nora today, and couldn't wait to show her off! Here she is - 4 days old!



Here she is getting changed...








And this photo just melts my heart...

Our Nora Caitlyn is here!

Nora Caitlyn was born on October 2nd, 2008 at 4:06 am! After 12 hours of very hard and challenging active labor and 51 minutes of pushing, Nora was born into my arms at home.





Labor began at 12:30 am (Tuesday night) with a few contractions that felt more regular and a bit stronger than normal. Luckily I was able to sleep most of the night, waking at 4:30 am. I woke Chris and gave him a heads up that this may be something. I still wasn't sure. I fell back asleep and we got up at 7 am b/c we had to take our cat Leeloo to the vet. I wasn't sure I was really in labor or if it was another false alarm, and I really wanted to see Leeloo off (we had to drop her off for x-rays). So, somehow, I was able to go along for the ride to the vet at 8 am. I had only a few contractions on the way there and while there, and thought maybe it was indeed a false alarm! They were still coming at about 9-10 minutes apart.

Once home, at around 11, the contractions started to intensify. By noon, I was timing them more diligently, and had to completely concentrate to get through them. I was sure at this point it was labor, but knew it was still early. The contractions were coming less than 5 minutes apart. Between 1 and 2 pm, we called the midwives answering service and the midwife on call, Pam, called us back shortly after. We told her what was going on and gave her a heads up that things were happening. It didn't take long for us to call her back and tell her she should probably start making her way up.

At around 3, Chris had to go pick up Leeloo. I was terrified to be left alone, but I really needed him to go pick her up. I knew it was still early and I was able to breathe and moan through the contractions enough while lying over my birth ball so I told him to go. I knew Pam would be there soon and that he would be back soon as well. Laboring alone wasn't as bad as I thought it would be. I was on my own for a little over an hour, but did well.

After that, things get a little fuzzy. Chris came back, Pam and Becca (her assistant and a student midwife) arrived and checked me. I was around 2 cm. I had a long way to go. The contractions were so incredibly intense, and baby Nora was OP (posterior) so my back literally felt like it was being hit with a sledge hammer with every one. It took a few hours for me to get to 5 cm, and I was changing positions as often as I could, from lying over my birth ball while on the bed, and sitting on the toilet. Chris was my rock through the whole labor, encouraging me through every single contraction, holding my hands, telling me how beautiful and strong I was. It was so hard. It was the most excruciatingly painful experience, really pushing me to the limits of my mental and physical strength.

I finally felt a little bit like pushing when the contractions were hitting at their strongest, so Pam and Becca said that if my body started pushing to go ahead and go with it. It didn't feel good. It felt so incredibly painful. After awhile of going like this, Pam decided she wanted to check me to make sure I was fully dilated and not pushing for nothing. I didn't want to be checked, I couldn't imagine how painful it was going to feel! But she put it to me this way - everything was incredibly painful right now. I didn't have a choice. I couldn't keep pushing against a cervix that wasn't open. So, she checked me and, indeed, I was only about 7-8 cm.

Becca and Pam told me to lay on my side, which seemed so uncomfortable at the time, so impossible, and they told me to just breathe through the contractions. Blow through them. Blow them away. Keep my voice low. Keep everything 'open' - I moaned the word open through every single contraction, clinging onto Chris for strength. I was starting to mentally break down. I felt completely helpless and like I was literally going to die. It was the hardest thing in the entire world not to push when the contractions hit; I had no idea what to do with my body or what to do with the pain. I mananged like this from 1 am to just after 3 am, when Pam decided to check me once again. I prepared myself for the worst...

But I was complete! 10 cm! Also, during that time, Nora had rotated herself from OP to LOA all by herself. They said I could finally push and bring my little girl into the world! They spun me around on the bed so my bottom was closer to the edge, and had me lay on my back propped up on pillows. Chris stayed behind me and I had has hands. Becca and Pam pushed my legs up towards my chest so I had some leverage to work against. With every contraction I just had to give it my all and push as hard as I could. Every push was bringing her further and further down. I wanted her out so bad. I could not imagine how much longer this could go on, I was completely exhausted. After 51 minutes of pushing, I felt her head sort of pop through, and Becca and Pam said, "Reach down and grab your baby!" I looked up and out she came, I caught her in my hands and pulled her up to my chest! She was absolutely gorgeous! Big blue eyes looking all around, barely a sound coming from her except for a few little whimper-y mewing noises! Chris and I were just completely overwhelemed with emotions and love for our little girl! She was so perfect and so wonderful - and after all that work, to see her face finally, and know she was alright was the most exhilarating feeling in the world.

The first few days have been such an experience for us. Nora is now 2 days old and is nursing pretty well. My body feels like it has been put through hell and back, and I had a few tears that needed stitches so I'm pretty sore. But Chris and I are so in love with our little girl, it makes the lack of sleep and juggling her back and forth completely worth it.

We will update again soon with more!