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June 2, 2004
Our galactosemia nightmare is over! (6-2-04)
Okay, so in my last entry I wrote:
“We’ve had one small health scare, and that was a call from her [Lily’s] pediatrician’s office today saying we need to repeat the galactosemia part of her newborn screening test. She has not seen a pediatrician yet (we were going to go for the first time when she was 1 month old) so now we will be going on Monday so she can be looked at and they can let us know the new test results. She hasn’t shown any warning signs (jaundice, diarrhea) and galactosemia is a very rare hereditary disorder which neither of us has any family history of, so my instincts tell me not to worry. If I had to guess, I would say that the initial test was thrown off by the fact that she was nursing as it was done and probably had more galactose sugar in her blood than she would have normally. For the repeat test they stressed that it needed to be done before she ate. Anyway, if there’s any important news I’ll post it on Monday.”
Ha! If only it had all been that simple and upbeat. *sigh*
I should explain first what galactosemia is, and how they test for it. When we ingest dairy products, our body breaks the lactose (milk sugar) into galactose and then into glucose, which the body uses for energy. Galactosemia is a very rare and serious hereditary condition that affects between 1 in 40,000 to 1 in 80,000 people and means that they can’t break galactose into glucose. The galactose builds up in their liver, causing permanent damage to it and then eventually to the brain. If the condition isn’t treated by a special diet, mental retardation and death will follow at a very early age. When they do a blood test like the newborn screening test, they check the levels of both galactose and the enzyme that breaks it down. The initial report from Lily’s test was positive-negative, meaning she had failed one part but the other part was normal. That’s cause to repeat the test but it’s not too worrisome by itself.
So, after I posted my entry, Lily and I headed off to the lab at the hospital so her test could be repeated. I hated that they were going to have to stick her to take more blood but felt otherwise certain that she was fine. No worries at all. Luckily, she stayed asleep in the car and during most of our time in the waiting room, because I knew she would be hungry as soon as she woke up and of course I couldn’t feed her until after the test. She woke up shortly before they called us back to the phlebotomy room and was loudly protesting her forced hunger strike as we entered the room. The technicians joked about the fact that she was screaming before they’d even touched her but I didn’t think it was all that funny. They wouldn’t let me hold her for the blood draw, which upset me, and then they dug around forever in her tiny arm trying to find her tiny vein as I listened to her agonizing pain cry and futilely tried to comfort her by patting her tummy and telling her she’d be okay. I could barely hold back my own tears. I nursed her as I walked down the maze of hospital corridors back to our car and she fell into a seemingly peaceful sleep, but of course I knew it wasn’t an “oh, that was no big deal” sleep—it was a “that hurt like hell and I’m retreating from this scary world” sleep. But still, she was okay and it was over and life was good.
Life was good until 6:00 that evening, when our phone rang as we were loading everyone into the car to go to a friend’s graduation barbeque. My BIL and his girlfriend were staying at our house and when she saw the pediatrician’s number on the caller ID she ran outside to give me the phone. The nurse on the other end of the line sounded very serious and urgent as she told me that they had just received a second fax from the state’s newborn screening lab, and this one said that not just one but *both* of the indicators on the original galactosemia test had come up positive. Having both tests come back positive is serious, the nurse told me. Lily could be a very sick baby, the nurse told me. We’re trying to find out why we have conflicting reports but we can’t take any chances with this, the nurse told me. You have to put her on special formula right away and you absolutely can’t breastfeed her until we get this cleared up, the nurse told me. She told me many more things as I stood outside in my driveway, dazed and utterly unable to comprehend any of it.
Derek understood enough of the conversation to begin unloading Aden and Lily from the car. We all moved inside. As I stood speechless in our kitchen, he called our friends to tell them we wouldn’t be at their barbeque after all. I began to process the news enough to relay the message in bits and pieces to Derek. I understood that Lily might have a very serious illness, but my initial reaction was to the news that I couldn’t breastfeed her. Sure, it would hopefully be a temporary thing, but what if something happened and I couldn’t get her to nurse again after this was all over? I was outraged and in tears. All I could say to Derek was, “I can’t not breastfeed her. I don’t know how to not do that!” It upset me more than I can possibly explain.
I may not talk about breastfeeding all that much, but obviously since I write a breastfeeding diary, it is something which is extremely important to me. It’s automatic, like breathing or eating. It‘s a part of me, of who I am, of how I parent. I’m not sure I even realized how important breastfeeding was to me until I was told I couldn’t do it. I can only say that the thought of taking Lily off the breast was absolutely heartbreaking to me.
The first person we called was Derek’s mom, who is a lactation consultant. She was scared for Lily and also immediately wary of weaning her, even temporarily. She was able to read about galactosemia in some of her books and give us some basic information about what it was, and what symptoms we would see if Lily did have it. But there was absolutely no evidence to indicate that Lily was sick, other than the questionable test results. Why were there 2 conflicting reports? Why did it take 8 days from the day our midwife mailed the test for the lab to receive it? What might have happened to it in the meantime? Sally suggested we contact the on-call doctor and see if he could answer more of our questions.
While I waited for the doctor to call us back, I called my friend Brenda who is one of our local La Leche League leaders. She was able to look galactosemia up and give us some incredibly helpful information, including the fact that the enzyme they test for is very susceptible to the heat so false positives are common in the summer, and that parents should be very firm about getting more information before they wean an otherwise healthy baby. When the doctor called us back I brought up everything I had just learned. I was so desperate to get some confirmation that my daughter wasn’t sick, that if she was looking and acting healthy that she probably was! I just wanted to hear the tiniest bit of hope that this would all turn out to be nothing, but he didn’t even give me that. He took an extremely conservative approach and basically said that we had to assume she was sick until we could prove she was healthy—a complete opposite to my own way of thinking. He was skeptical of the possibility of a false positive and said we had to respect the test and be cautious, because even though she looked healthy those sugars might be building up with each feeding and harming her. He was incredibly cavalier about my commitment to breastfeeding and didn’t seem to view a week of weaning as any big deal. By the time I got off the phone I was even more upset. Was I taking her life into my hands if I refused to stop nursing her? I felt awful. The only good thing was that he had agreed to see us and examine Lily during his Saturday office hours. I could tell he didn’t think it would make a difference since we’d still be waiting on the repeat test results, but at least it helped Derek and I to feel like we were taking action.
We kept making phone calls and trying to get more information. At some point, I think while I was on the phone with my midwife, Lily woke up and was hungry. What should I do? I didn’t know what else to do, so I picked her up and nursed her. Over the course of the evening, Derek and I formulated the plan that we weren’t going to change anything until we had some kind of proof that she was sick. Breastfeeding was too important to us, and too much a part of our lifestyle, for us to sacrifice it unnecessarily. I checked her frequently for any sign of jaundice and I overanalyzed every bit of spit up and every poopy diaper to make sure she wasn’t vomiting or having diarrhea. We were able to meet one of Sally’s friends at the hospital to weigh Lily and found that she was up to 10 pounds already—a definite confirmation that she was indeed thriving. I felt calmer and more comfortable with our decisions but every time I looked at Lily I felt like bursting into tears—what if my precious daughter really was sick? It was too horrible to contemplate but I had to.
Saturday was a slightly better day. The doctor thought Lily looked very healthy and didn’t see any warning signs like an enlarged liver. She was even up to 10 pounds and 7 ounces on their scales! His attitude was still very cautious and negative, which infuriated me, but at least we were expecting it this time. Unfortunately he told us it would be 7 to 10 days before we received the repeat test results! We went out to buy some formula to have on hand in case she began to develop any questionable symptoms while we waited. I had a few moments of panic, doubt, and fear about her health and our decisions, especially when I was feeding her. What if I was poisoning her with every drop of my milk? But as we did more research on the internet we found many cases of babies with false positive tests, and other stories of babies who were galactosemic but had a milder form of the disorder which didn’t affect their life at all. It sounded like most babies with galactosemia became obviously sick very quickly and failed to thrive right from the start. I felt confident that if Lily was looking and acting so healthy, she either wasn’t sick or at least had the milder form of the disorder.
On Monday I spoke with the statewide coordinator for the Newborn Screening Program and was able to get more information, most importantly that the second report showing the positive-positive result was wrong—her original test was only positive-negative so there was much less chance she was really sick. She also was able to tell me that the results of the second test would be back on Wednesday—we only had 2 more days to wait rather than a week! She was incredibly helpful and I was so glad that I had worked up the nerve to call her.
Finally, on Wednesday, after many phone calls to both the lab and my pediatrician’s office, I found someone who could tell me the results of Lily’s repeat test. My stomach was in knots until at least I heard the words, “It’s negative.” She was fine! We were lucky—those 5 days had been awful, but at least they had only been a scare and it was over. :)
And I learned so much in those 5 days! Most of all, I’m so glad that we listened to our hearts rather than the doctor. I’m not advocating that everyone disregard their doctor’s orders, but in a case like this where so many facts didn’t add up, I think we were right to question the test results and to listen to our intuition instead. I was also so, so glad that I sought out other resources. If I had just listened to that doctor, I think I would have spent those 5 days in a serious depression, assuming that my daughter had a horrible illness and was going to die or become retarded. Looking for more information, reading other parents’ stories, and talking to other experts gave us hope, confirmed our gut instincts, and helped us to feel like we were actively doing something (anything!) to help her.
So now I can look at my daughter, who is chunky and healthy and absolutely adorable despite the baby acne that is creeping across her entire face (LOL), and be reminded in yet another way what an absolute blessing she is—how lucky I am to have her, and her brother, and everything else in my life. I am definitely rich in the things that matter most. :)
Tara
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