Friday, September 17, 2010

She has Galactosemia

I had just been handed my new baby daughter... Elation!
Telling about Elenore would not be complete without telling about her Galactosemia. We found out about it when she was nine days old after the results of her infant screening test came back to our family doctor. He called us up and said not to worry, but that she had come up positive with one of the tests and that I should bring her in as soon as possible. Once I got there with my sweet mother-in-law, I sat in my new-mother aura, happily answering his questions about how she was doing: besides getting a little jaundiced, spitting up a lot, and taking a little bit to get used to the breastfeeding, she was fabulous, we were all so happy and doing wonderfully! She was perfect!
7 days old, sleeping in her clean laundry

absolute perfection and loveliness!
Then he told us he was in contact with the metabolic specialist at UVA who ordered a bunch of tests to confirm, but that she tested positive for having Classic Galactosemia. Our doctor didn't know much about it and was reading to us what he had just researched, that is is a rare genetic metabolic disorder where her body is missing the enzymes to digest galactose, a sugar most commonly found in lactose, making it toxic to her, so we need to take her off breast milk right away. I felt like someone had socked me in the stomach and yanked my precious little newborn literally from my breast. I had been prepared before she was born for her to have some sort of problem; that was something I had prayed about when we were waiting for children. I was willing to have a baby with any kind of problems, I just wanted to have a baby to love and nurture... but I had naively never thought of having a baby that I could not love and nurture the way I thought was best had so yearned to do. Then we learned that if we had not caught it in the next few days she most likely would have died, or suffered severe brain damage, blood sepsis, liver failure, amongst many other problems, and that we were not out of the woods yet. I had managed to take it all in without a tear or any emotion, I just felt blank and unreal. Then my mom-in-law asked if I was okay, and I just broke down crying in her arms.

We called Jonathan at work, and went right away to the hospital to have a bunch of tests run on her, watching them fill adult-sized blood vials from her tiny foot, collect urine, and in general poke and prod her in ways new to all of us, having had such peaceful and gentle exams through my pregnancy and homebirth. Nothing felt real anymore and I felt like I was watching a movie of my life, not living it. So many emotions were floating in and around me, yet I still did not feel I really owned any of them. I felt so strange. I felt almost matter-of-fact about it all, which I think was the Holy Ghost trying to get through to me that everything would be alright.
That night I went to a baby shower, keeping this secret inside. I just was not ready to talk to people about it, and I wasn't sure I wanted people knowing anyway, not until we knew for sure one way or the other. I think back now and I wish I had told people to have their love and support and prayers. We told all of our family of course (I finally had a good cry over it on the phone with my mom) so we had plenty of family and distant friends praying, but I just did not want people I would see every day asking me about it, it was still too painful and strange and unknown.

We went for two weeks like that, doing more tests, talking to more doctors, doing more research, and still feeling like we did not knowing anything. We had not even confirmed that she actually had this disorder, because there had been some discrepancies in the original tests, so we had to do more and wait for the results to even know that for sure. And everyday people were telling me how beautiful and perfectly healthy Elenore looked, and I just had to smile that secret pain away. But every day she was still alive, and seeming to be doing much better. She was more alert and happy, and not puking up a whole feeding at once with that awful projectile vomit through her mouth and nose. We put her on a soy formula right away, and put her out in the sun a few times a day for 10-15 minute intervals, and that cleared up her jaundice right away. She loved being out in the sun, and would squirm her little needle-pricked self around until she was facing the sun.
My Little Sunbather

So full of life! Nothing could get this girl down!
 I was starting to do better too. I now felt peace that she would be alright. I knew that if she did indeed have this disorder, which it was seeming more and more likely that she did, we were blessed that she so far was not suffering any of the negative side effects and seemed very healthy and strong. I was just mourning the loss of breastfeeding her. I cried every day over it, at least once. I couldn't help hating all that comes with transitioning to bottles. Besides all the hassle of finding the right bottle that works for everyone, the insane cost of formula, I especially hated those nighttime feedings when she would wake screaming hungry and instead of being able to roll over and immediately nurse her, I had to stumble around in the dark trying to get a clean bottle, get the water the right temp, measure out formula, mix it up, and finally feed my poor screaming baby. By that time I was usually crying too. Then I had to go pump... no more sweet little warm bundle snuggled up to me - nope, now I was just a cow hooked up to a machine pumping milk to keep my supply up  in hopes that perhaps soon she could eat it again, but knowing deep down that was impossible, and it would all be wasted. I tried to find people or breastmilk banks that needed milk, but found nothing. When we finally learned for certain that she did indeed have Classic Galactosemia, my milk dried up within a day. I think my body just knew. But I still cried about it. Then throwing out our freezer full of milk... I just felt sadness, mixed with guilt for wanting something that would kill my daughter, and guilt for loving those early days when I was unknowingly poisoning my baby girl...But peace had finally come! We knew for sure, and Elenore was healthy in spite of everything. The specialist said he would never have picked her out as having any problems from a routine well-baby visit. She was ours, and nothing could take her from us.

*   *   *
Now we face the struggle of learning about this fairly newly discovered disorder with so little research and information available. It was easy when it was just the bottle, but now that we are on to solid foods I keep learning more and more things that she cannot have, and different experts disagree, and it is all overwhelming. We also have had to take her in for many a blood draw to test her Galactose-1 phosphate levels among other things. They should be between 80-125 mcg/g hgb. Her levels keep going up even though we have restricted her diet as best we can. Her last test result was198 mcg/g, which is getting dangerously near the 260 mcg/g which was what she tested as a newborn and was clearly having negative side effects. The danger of this disorder is when there are consistently high levels, and it causes problems physically as well as developmentally. It is just so hard  and frustrating to not be able to do anything or know how to fix it or what is causing it. Her body must just be producing more than usual.

We have to constantly decide to focus on the positive. Elenore is so far still super healthy and alert and up to speed in her development. I also decided instead of focusing on her "no list" of foods that keeps growing exponentially, I will focus on her "yes list". So here is a basic list of what Elenore CAN eat (anything with less than 5mg/100g), anything else we just steer clear of:

Meat and Fish (no organ meats)
Nuts (no Hazelnuts)

Most, except wheat

Grapes, green

Bamboo shoots
Bean sprouts, green
Chard, Swiss
Corn, sweet
Mushrooms, common
Mustard greens
Peppers, hot (not bell)
Potato, white

Most, except honey and Equal


  1. Poor baby, and parents. It will eventually become second nature in what to feed her. She is a beautiful blessing!

  2. You are such a strong woman, and an inspiration! I hope you know how much you are all loved. And we especially can't wait to see more and more of you. :)

  3. Wow, Carolena, I had no idea that it was so difficult once she started eating solid foods. I just didn't realize. She can eat hot peppers, huh? I find that kind of humorous, does she eat them? Good luck coming up with fun and new recipes! It's like you get to have an adventure everyday (that your up to it, anyway)! How is she doing? I sincerely hope that you are doing well! I miss you terribly and cannot wait to see you again! You have my number. You should give me a call sometime! Love you!!! :)

  4. It must be incredibly difficult to deal with, and how sad for all those delicious foods that she cannot eat. I thought cooking for Joseph would be hard, but now I am pretty used to it, and have learned how to cook the foods I love for me (and Isabella) and make him something else, or find out how to add what I love to the basic meal. I am continuing in interest about this, and look forward to future posts. I am so sad for you to have to deal with this, but it's what life is all about.

  5. Wow! I can't believe how similar our lives are at this point. In some odd way it's nice to know there is someone out there that is experiencing a similar situation. There are still so many unanswered questions with our boys. Adam is actually being referred to a neurologist and has his first appointment in November. There are still so many things going wrong that we don't know about, all of which have affected his development and brain activity.

    And Owen... I so remember the constant projectile vomiting and spitting up through his nose. I guess one never forgets those moments.

    I reviewed the list of foods that your daughter can have and I have TONS of recipes that would work for you guys if you're interested. Over the last year I have held contests online, skimmed every magazine I can find with recipes in it, and researched allergy friendly cook books to come up with a binder full of meals our whole family can eat that will work with the kids' diets. Adam can only have 35 basic foods/ingredients at this point.

    Please don't hesitate to ask if you want some of them. The first one that came to my mind that your daughter could have are these chicken and zucchini enchiladas. They're so yummy and completely safe. There are so many more. I'd love to share.

    Good luck with everything.

  6. Wow, what a heartfelt, deep, moving post! Thanks for sharing your heart! I have a friend from college whose son his this condition! Let me know if you would like her info!

    I found your blog through Monkey Tales winner list.

    I just became a follower! Would love for you to follow back!!

    Best of luck!

  7. Oh I remember living each and every one of those emotions when Jackson was born two years ago. It's so scary initially, and something that unless you have a child with the same disorder, you can never understand the day to day challenges. I will say however, that it DOES get easier. Scarier for new challenges as they get older, but the allowed/not allowed foods do become some what of second nature.

    I spend the majority of my free time searching for new recipes I can make or tweak so that he can eat them, and overall, he's doing great! Speech delays, but nothing other than that.

    I found you on my blog which I haven't updated in a while, but will soon. I have an everyday blog that you can also check out and if you ever want any recipes or have any questions or what not, PLEASE feel free to ask!! It can be scary and the disorder is so rare, that we all need to lean on each other from time to time. Good luck with everything!!!


  8. I'm reading your story and my eyes are full of tears..I too have a daughter with classic galatocsemia.. who was born at 36 weeks on 8/26/10. Because she was a preemie we were still in the hospital when I found out about 5 days later she had this disorder.
    My daughter Aliena stayed in the hospital for 12 days before being allowed to come home. It was scary everyday. The doctors said they saw 1 baby every 2 years with this disorder.
    I totally understand everything your saying..even the blood draw being so hard to stand by and watch. They stab my poor baby trying to get, like you said an adult size sample. It sucks and my eyes well up standing next to her and allowing these people to keep poking her over and over again, until they have enough blood to test.
    please contact me LMTPWAGNER@YAHOO.COM
    My name is Pamela it would mean so much to have a friendship with other parents with kids of galatosemia. I worry so much everyday.