CF Diagnosis: Part 6

This is the sixth and final installment in the story of how Madeline was diagnosed with cystic fibrosis. Check out part 1, part 2, part 3, part 4, and part 5 to get the story on what happened up to this point.

As soon as we started giving Madeline enzymes with each meal, she started gaining weight. It was like magic. She went from gaining two ounces in two months to gaining two pounds in two weeks. One day I picked her up from a nap and realized that she was even a little bit sweaty. She was fat enough to sweat! And that meant we might actually get results from doing another sweat test.

Madeline's next visit to the nutrition clinic was scheduled for two weeks after the first, so she was ten weeks old. By this point we were just super ready to know for sure what the problem was, good or bad. Details of the main visit itself have totally blurred together in my memory, but I will forever remember the sweat test. We knew it was going to happen and we wanted to be completely certain that Madeline would sweat, so we had come prepared with extra blankets and even a little space heater to warm up the chilly room where the testing took place. I even asked for a heated blanket; we were seriously not taking any chances on not obtaining a sufficient sweat sample.

Unfortunately Dave had an internship interview scheduled for that same afternoon and since the clinic visit took longer than we had hoped, the interview ended up directly conflicting with the sweat test. He offered to cancel the interview and stay with me, but I encouraged him to go and sincerely thought I would be fine on my own. (Spoiler alert: I wasn't fine on my own after all, but Dave did end up getting the job, so that's something.)

Madeline's second sweat test

Obviously my emotions were pretty raw by this point. And unlike the previous sweat test, this time Madeline cried during most of the procedure. The tech who set it all up was rude to me, and as soon as he left the room, I burst into tears. With the space heater blasting onto us, I wrapped Madeline up in lots of heavy blankets and held her as close as possible while trying in vain to calm her down. We were both so hot and uncomfortable, and our tears mixed together as my shoulders shook from the weight of a problem that I couldn't fix for my baby girl.

That night Dave and I got the call we had been waiting for: The results of Madeline's sweat test were in, and it was overwhelmingly positive for cystic fibrosis. We hung up the phone and collapsed into each other's arms. There was simply nothing to say that could even come close to touching how we were feeling. I sobbed. We both sobbed. We called our families and cried as we shared the news. We looked at our perfect baby girl sleeping in my arms and wept. 

The relief and peace of having a diagnosis was almost tangible, but it was also absolute. There was no more hoping that she would miraculously grow out of her pancreatic insufficiency and start digesting food on her own. There was no more hoping that it was a fluke, an allergy, colic---just one of those fussy-baby-things that new parents have to deal with all over the world. She had cystic fibrosis. And it wasn't going away.

Madeline's adorable chubby stage, where she
chunked up without getting any longer.

That night we sat at our kitchen table, eating a meal that a sweet friend--herself only three weeks postpartum--had brought to us since she knew we had a long, taxing appointment at Primary Children's Hospital that day. Fresh with the reality of Madeline's diagnosis, there could have been nothing more comforting than a delicious, home-cooked meal that I didn't have to prepare myself. A meal that told me, It's okay. People love you. Heavenly Father loves you. It will be alright. You still have to deal with this, but right now you can just eat creamy chicken rice soup and that's enough.

After dinner, I looked at my baby and thought about how much I loved being a mom and how much I absolutely adored her. How being her mom filled me up in a way that I didn't even know was possible. And how much I wanted her to live a long and healthy life and have babies of her own that we could kiss and admire together. I wanted her to feel what I felt. I didn't know if she would. And I wept again. I wept at the possibility that some day she would have those babies and then end up leaving them much too young. I wept for the anguish she would feel leaving them behind. And I wept for the anguish they would feel seeing her go. There were just so many questions and what-ifs. And we didn't have answers for any of them.

Madeline in November 2016

I can see us sitting at the kitchen table so clearly that night, and I wish I could go back and give that new mom and dad a hug. Show them a picture of eight-year-old Madeline and assure them that although there would be a super crazy hard learning curve, they would get the hang of things and eventually it would all become a lot easier. I wish I could tell them that although there would always be new wrinkles and unknowns, the shock and hurt would go away even sooner than they hoped. I wish I could tell them that while CF would always be a big part of their lives, it wouldn't be ever-present. Instead, I'll just be glad I don't actually have to relive that moment. I'll enjoy our amazing, vibrant little girl, and I'll thank the heavens for all that we've learned and for all of the wonderful research that makes it possible for Madeline to live such a wonderful life.

CF Diagnosis: Part 5

This is the fifth installment in the story of how Madeline was diagnosed with cystic fibrosis. Check out part 1, part 2, part 3, and part 4 to get the story on what happened up to this point. Only one more after this, I promise!

Long and exhausting. That pretty much sums up our first visit to the nutrition clinic, which took place in the middle of April 2009. We left early in the morning and didn't get home until well past dinnertime. You can read more about the specifics of that visit here. Basically we showed up armed with Dave's charts and spreadsheets, ready to give the doctors precise information about everything we had tried up to that point to get our baby to grow. They were pleasantly surprised when we handed them a complete history of Madeline's growth (or lack thereof) and evidence that her fluid intake was clearly more than sufficient. Dave's mom was with us, and as a nurse and a lactation consultant she was able to offer some helpful insights as the doctors asked questions.

We knew what wasn't the problem, and that was actually quite helpful because it allowed us to rule out a lot of things right away and get down to business. I honestly think that saved us a visit or two (meaning several weeks!) and made them take us seriously. Partly to see if Madeline had some type of food allergy, the dietitian asked us to do a 3-day trial with super hypoallergenic formula. This formula is full of calories and is basically partly broken down already, so the plan was to see if Madeline could at least gain weight on this formula.

But really, despite the negative genetic testing, all signs pointed to CF. The doctor also decided to order two tests: a fecal elastase test to check for pancreatic insufficiency and a sweat test to determine if she had cystic fibrosis. You can learn more about the sweat test here, but basically you just need to know that it's the "gold standard" for diagnosing cystic fibrosis, and it measures the amount of chloride in someone's sweat. People with CF have 2-5 times the normal amount of sodium and chloride in their sweat, which is why their skin tastes salty.

Madeline's first sweat test--she actually slept through the whole thing.

The doctor also called in the head of the CF clinic, Dr. Chatfield, to meet with us and just give us some introductory information. It was a sobering but hopeful conversation, and when we left, Dr. Chatfield said something to the effect of, "I certainly hope we never see each other again, but if Madeline ends up in my office, it's going to be okay."

We tried to do both tests that day, but Madeline was too skinny to sweat so the results of the sweat test were inconclusive. We got a call that night letting us know that the fecal elastase test showed she is extremely pancreatic insufficient, meaning she lacks an enzyme needed for properly digesting food and absorbing fat. The doctor ordered a shiny new prescription of Creon, which is an enzyme that allows fat to be absorbed, and a special ADEK vitamin (those vitamins are fat-soluble and cannot be absorbed by people with CF).

CF is the leading cause of pancreatic insufficiency, so while there were still a few remote possibilities for what could be causing Madeline's problems, at that point we knew it would most likely be CF. Still, in the next two weeks before we were scheduled back at the nutrition clinic, I hung on to that slim hope pretty hard and kept hoping she would miraculously be okay.

Read part 6 of Madeline's diagnosis story here.

Does CF get any easier?

Madeline and me after a four-hour visit to the CF clinic at Primary Children's
Hospital in May 2009, about a month after she was diagnosed with cystic fibrosis

When Madeline was first diagnosed with cystic fibrosis, Dave and I were understandably sad. I don't think "sad" is really even a good word to describe how we felt. I didn't feel hopeless. I didn't feel devastated. I didn't feel like my world had been shattered. But I was much more than sad.

We hung up the phone after speaking with Madeline's doctor about the positive results of her sweat test and collapsed into each other's arms. There was simply nothing to say that could even come close to touching how we were feeling. I sobbed. We both sobbed. We called our families and cried as we shared the news. We looked at our perfect baby girl sleeping in my arms and wept.

The relief and peace of having a diagnosis was almost tangible, but it was also absolute. There was no more hoping that she would miraculously grow out of her pancreatic insufficiency and start digesting food on her own. There was no more hoping that it was a fluke, an allergy, colic---just one of those fussy-baby-things that new parents have to deal with all over the world. She had cystic fibrosis. And it wasn't going away.

That night we sat at our kitchen table, eating a meal that a sweet friend--herself only three weeks postpartum--had brought to us since she knew we had a long, taxing appointment at Primary Children's Hospital that day. Fresh with the reality of Madeline's diagnosis, there could have been nothing more comforting than a delicious, home-cooked meal that I didn't have to prepare myself. A meal that told me, It's okay. People love you. Heavenly Father loves you. It will be alright. You still have to deal with this, but right now you can just eat creamy chicken rice soup and that's enough.

Madeline in June 2009

After dinner, I looked at my baby and thought about how much I loved being a mom and how much I absolutely adored her. How being her mom filled me up in a way that I didn't even know was possible. And how much I wanted her to live a long and healthy life and have babies of her own that we could kiss and admire together. I wanted her to feel what I felt. I didn't know if she would. And I wept again. I wept at the possibility that some day she would have those babies and then end up leaving them much too young. I wept for the anguish she would feel leaving them behind. And I wept for the anguish they would feel seeing her go. There were just so many questions and what-ifs. And we didn't have answers for any of them.

So when someone asked me recently if CF gets any easier, I had to say, Yes! Absolutely! Cystic fibrosis is undeniably a major part of our lives. But it's not a crushing one. And really, it's not even one that's on our minds very often.

It's true: We dedicate more than an hour a day to making sure that Madeline does breathing treatments and vest therapy that will keep her lungs as healthy as possible. It's part of our morning routine. It's part of our evening routine. Sometimes we have to cut fun activities short to make sure her treatment gets done. We take enzymes everywhere we go. Before Madeline puts even a bite of Halloween candy or a sample at Sam's Club into her mouth, we have to decide how many enzymes to give her based on how much she'll be eating and how high in fat it is. When we set the table for dinner, we put three enzymes out along with the salt and pepper. When I check her backpack before school, I make sure she has not only her mittens but a full bottle of enzymes and an extra high calorie drink that she can have at snack time. If we spend the night at Grandma's house, we pack underwear and pajamas plus her vest and an extra bag with nebulizers and various medications. I spend a lot of time ordering medication and coordinating things with insurance companies and her CF care team.

But I don't cry each time I give Madeline an enzyme. It's just part of eating. Telling her to get her vest on and start her treatment is as normal as telling the kids to wash their hands and pick up the toys before dinner. Cystic fibrosis is an ever-present yet, at the same time, very small part of what we do around here. We deal with it every day, but we don't think about it every day.

Madeline reading a Magic Tree House book while doing her treatment earlier this month

Life with CF really does get easier. Some of the worries never go away and there are unusual issues to deal with that most parents don't have to think about. There are sobering moments and we know that there will be setbacks along the way. But once we dealt with the initial shock and trauma of the diagnosis, we learned that life goes on and is no less awesome because of CF. Once we got over the massively difficult task of learning to do all of Madeline's different treatments, we found that they became very routine. And not only have they become routine, but it has actually become easier to do them as she's gotten older and more independent.

Madeline is coming up on her sixth birthday. She has been swallowing pills since she was twelve months old. She has completely normal lung function for a child her age. And she can set up her treatment by the time I count to thirty-seven. She's healthy. She's thriving. She's normal. She's crazy and funny and enthusiastic and smart and loving. She plays in the snow with her sister and overwhelms her little brother with kisses and likes to draw, play in the dirt, climb trees, build volcanoes, and read. She likes her hair to be unbrushed and she wears polka dot shirts tucked into striped pants. She's fantastic.

There are amazing therapies for cystic fibrosis out there, and more are being developed all of the time. Madeline could easily see a cure in her (very long) lifetime. And we certainly anticipate a life filled with good health and every other good thing she could wish for. In the meantime, we will go on being a normal family. And we will keep packing those enzymes.

A Taste of Cystic Fibrosis

Today marks the fourth anniversary of when my daughter Madeline was diagnosed with cystic fibrosis. After her first CF anniversary, I wrote several detailed installments about our journey to finding a diagnosis, which you can find here, here, here, and here. As long as it is, that series is still missing the final installment. I was never able to write that last bit, partly because life got really busy and mostly because after a lot of emotional progress and only a year into our CF journey, I didn't feel like taking myself back to those raw emotions. Well, today still isn't the day I'm going to finish that series. But I do want to commemorate Madeline's fourth CF anniversary by offering you a peek into my own experience as we went through those first difficult but beautiful months of Madeline's life. 

I used to lick my baby. The first time I did it, she was only five and a half pounds—still several ounces shy of her birth weight at a time when she should have been well past it. I had just finished cleaning both of us up after yet another meal had ended with projectile vomiting, and the skin folds on her scrawny legs, just waiting to be filled out with fat, were a glaring reminder that my baby was simply not growing. That even though she ate and ate and ate, she was still smaller than she had been when she hollered her way into the world four weeks earlier.

Although many people dismissed my concerns, implying that I was an overly hyper new mother and telling me that all babies grow at their own rate, a few medical professionals had tentatively mentioned cystic fibrosis (or CF), a disease I was only mildly familiar with. I had known that it is a lung disease caused by thick, sticky mucus in the body, but not that it also causes severe digestive issues and makes it impossible to absorb fat and other nutrients without supplemental enzymes.

It was also news to me that people with cystic fibrosis often taste salty because they secrete too much salt when they sweat. Once I found out, I couldn’t resist testing it out. I could just lick my baby and put all this nonsense to rest.

That first morning, I picked her up, kissed her on the forehead, and let my lips linger for a moment, breathing in her sweet new baby smell before tentatively sticking out my tongue and touching her forehead. Relief washed over me: she wasn’t salty. At least, I didn’t think she was salty. I wasn’t in the habit of licking people, so maybe I just didn’t know what to expect. I licked her again. Still not salty.

For the next several weeks, as we visited the pediatrician weekly and tried everything to help her gain weight, I held this moment in the back of my mind as hope that my baby would, in fact, just suddenly start growing like other babies and not have anything seriously wrong at all. I couldn’t resist licking her now and then, just to see if something had changed. She was never salty.

When she was eight weeks old, we were transferred to a specialty nutrition clinic, where they were impressed that we had already eliminated all of the usual reasons for a newborn’s lack of growth. The doctors there ordered a sweat test to check for cystic fibrosis, which came back inconclusive because she had not sweat enough, and a fecal elastase test, which showed she needed to take enzymes to digest her food. As soon as we started giving the enzymes to her, she put on two pounds in two weeks.

One day I got my baby up from a nap and noticed that her hair was a bit damp around her temples. She had finally gotten fat enough to sweat. I hesitated only briefly before licking her: she was salty. Relief washed over me again. Finally, we could get a real answer as to why she was struggling and help her begin to thrive. It wasn’t a surprise when, at ten weeks old, her test results for cystic fibrosis came back positive.

Since that day, I have felt a huge range of emotions about her diagnosis with cystic fibrosis. I have cried a lot. I have felt overwhelmed a lot. But today, I am simply grateful that she is a funny, brilliant four-year-old girl who is just like any other four-year-old girl. She is active and strong and healthy. And although we spend a couple of hours each day doing treatments that keep her that way, I am grateful that when people find out she has cystic fibrosis, they most often say, “But she looks so normal! You would never know by looking at her that anything is wrong.”

No, you wouldn’t. Because she is normal. She just has this one little problem called CF.

CF Diagnosis: Part 4

It's finally time to read more about how Madeline was diagnosed with cystic fibrosis. Follow these links to catch up on part 1, part 2, and part 3.

Ironically enough, this letter from the Utah Department of Health was sent to assure us that Madeline did not, in fact, have cystic fibrosis.

The letter reported that Madeline's blood sample had been flagged in the first round of the newborn screening panel for having elevated IRT (trypsinogen) levels, something that is a marker of pancreatic insufficiency and therefore used as a preliminary test for diagnosing cystic fibrosis. Since this test can lead to false positives, it's really just a way to identify infants who may have CF, and it is always followed up by further genetic testing. According to the letter, the results of Madeline's genetic testing showed no CF gene mutations, and we shouldn't concern ourselves with CF any longer.

I read this letter about ten times. What??

For one thing, I hadn't been aware that I should be worrying about CF based on the results of the newborn screening panel. We had never been informed that she had elevated IRT levels, and it was strange to essentially be told that although we should have been concerned, we didn't need to be concerned anymore. Good to know. On the other hand, despite the negative results of the genetic testing, the elevated IRT levels in conjunction with her other symptoms could mean something after all.

Throughout the weeks that followed, the hopeful part of me held on to this letter as "proof" that CF was not the cause of Madeline's poor weight gain. We continued to do everything under the sun to get her to gain weight, including promising her a party when she crossed the six-pound mark. She was excited about the idea and worked really hard to eat and conserve her energy, but she didn't grow.

See how excited she was? She loved this jungle gym.

She had blood work done two different times to make sure she was hydrated and to see if any problem at all could be identified through lab work alone. We discovered she was anemic and started her on iron drops, but she still didn't grow.

My breast milk was tested to see if it contained enough calories. It did, and to spare, so we knew that a pure lack of calories wasn't the problem either. Still, we started giving Madeline one bottle a day of breast milk that was fortified with formula to up the calorie content even more. This bottle was more work for me but good practice for her, so I didn't mind. But even with the extra calories, she didn't grow.

Dave and his mom coaching Madeline

I started nursing her on the same side for two entire feedings in a row so she would get as much high-calorie hindmilk as possible. You guessed it--she didn't grow.

Thoroughly stumped, our pediatrician decided to refer us to a wonderful nutrition clinic at Primary Children's Hospital in Salt Lake City. Although this clinic often takes up to six weeks to get into, he managed to get us an appointment within two.

Read part 5 of Madeline's diagnosis story here.

CF Diagnosis: Part 3

This post is part 3 in the story of Madeline's diagnosis with cystic fibrosis. Check out part 1 and part 2 for the beginning of her story.

During one “routine” visit to check Madeline’s weight, our pediatrician asked, “Do you have a history of cystic fibrosis in your family?” I was completely taken aback. Cystic fibrosis? No way.

Although the pediatrician was growing increasingly stumped, it honestly shocked me that he was thinking of something so serious—and that he was thinking of cystic fibrosis at all. Neither Dave nor I have a history of CF in our families, and despite my inkling that something was wrong with dear Maddycakes, a big part of me still expected to find something wrong that could also be easily fixed.

It’s interesting to look back at this moment—the first time that I ever heard or thought about cystic fibrosis in connection with my daughter, and probably the last time that cystic fibrosis was ever abstract to me. It all seems so obvious now, but my surprise at the idea was probably a direct result of my own lack of knowledge. Although I understood that CF is a lung disease that involves excessive amounts of thick, sticky mucus, I had no clue that CF also affects the digestive system and can lead to poor weight gain.

Of course I read up on CF after our appointment so I would know more about its symptoms, but it was fairly easy for me to dismiss it as a cause of Madeline’s small size, especially because the state of Utah actually began screening for cystic fibrosis as part of the newborn screening panel just six weeks before Madeline was born. We all had every reason to think that if she had CF, it would have already been identified through the newborn screening panel.

Or at least that's what I thought until I received a letter from the Utah Department of Health near the end of March.

Read part 4 of Madeline's diagnosis story here.

CF Diagnosis: Part 2

Two months ago, I began telling the story of Madeline's diagnosis with cystic fibrosis. This is part 2 of that story. Feel free to refresh your memory here on what happened last.

Once we knew that Madeline wasn’t gaining weight, the real drama began. Most people tried to reassure me that she was fine by saying, “Don’t worry, all babies grow at different rates.” While that’s true, and people were only trying to be kind, most babies also grow. There is a difference between slow weight gain and no weight gain. We knew there was a problem, and it didn’t feel helpful to be told that I shouldn’t be concerned or that I was overreacting, especially when anyone associated with the medical profession told me otherwise.

Of course we hoped that Madeline would suddenly start gaining weight and our worries would be over, but in the meantime, denial wasn’t going to get us anywhere. We were lucky enough to have a wonderful pediatrician who was very supportive of our efforts to pinpoint the source of Madeline’s growth problems, and he began meeting with us weekly to keep track of her weight gain and help us figure out what was wrong.

Since most cases of “failure to thrive” stem from nutritional issues, that’s where we started as well. I was exclusively breast-feeding Madeline, and this led to several questions, such as: Is she latching on properly? How much milk is she actually drinking each feeding? Is the fat content of the milk high enough?

First we met with a local lactation specialist, who verified that Madeline had a great latch and was, in fact, a wonderful nurser. Go, baby.

Just because she was cute . . .

Then, coached by Dave's mom, who is also a lactation specialist, we rented a high-quality baby scale. For several weeks I weighed Madeline before and after every single feeding to track how much milk she was actually drinking. We also kept track of her wet and messy diapers (including the color) so we would know more about how her body was processing her food. We did an official weigh-in at the same time each day, taking care to make sure the conditions were the same each time (right before she ate, wearing only a clean diaper, etc.). Dave busted out his Excel skills and made charts to track her food intake and overall weight gain.

Doing these things might sound so simple, but in reality, they were incredibly draining. When Madeline woke up in the middle of the night (after finally falling asleep from a long evening with stomach cramps), the last thing I wanted to do was put her on the scale when she was screaming and wanted to just eat, already. It was a constant reminder that something was wrong, and the stress of feeling directly responsible for her eating (and thus her growth) is impossible to describe.

When she was six weeks old, we could still see her ribs, her newborn clothes were baggy, and her arms and thighs had skin folds that were waiting to be filled with chub. But her cheeks had started to get chubby, her head (and thus her brain) was growing, and she was bright-eyed and alert.

I love that you can see her perfectly round cheeks and yet skinny little self.

By the end of our experiment tracking Madeline's weight, we had proof (in the form of Excel spreadsheets and impressive charts drafted by DP) that she was getting plenty to eat. That was good news in a way, but at the same time, a problem with her intake would have been relatively easy to fix. As it was, we had ruled several things out but were still left with no real answers and an impossibly tiny baby girl.

Read part 3 of Madeline's diagnosis story here.

CF Diagnosis: Part 1

Since there is so much to say, I decided to write about Madeline's CF diagnosis in parts. This is part 1, the beginning of our journey with CF.

Madeline was diagnosed with cystic fibrosis when she was ten weeks old. The story of how she was diagnosed can be summed up in three ugly words: failure to thrive. These three words leave out most of the real story, however. They leave out the worry, the heartache, the stress, the frustration, the relief, and the overall joy that we experienced during those ten long weeks as we struggled to find out what was wrong with our perfect baby girl.

Our first hint that something wasn't quite right came when Madeline was eleven days old and started vomiting after most of her feedings. As a first-time mom, it was hard to convince people that this was not regular baby spit-up. It was projectile vomiting (sometimes two or three feet across the room), which is absolutely not normal. And like I said, it happened after most of her feedings. Also not normal.

At her two-week doctor's appointment, we found out that Madeline had not yet regained her birth weight. Babies generally lose a bit of weight after they are born and then are expected to gain it back by the time they are two weeks old. Madeline only lost a few ounces to begin with, but she was just sort of stuck where she was, hovering around 5.5 pounds. This was a red flag that we needed to monitor her weight closely and make sure she started to gain.

Madeline also started to have stomach cramps at night, and she would cry until the early hours of the morning before finally falling asleep out of sheer exhaustion. Once again, it was hard to know if this was really something to be concerned about, or if it was simply normal newborn behavior. Something always made us feel like she was in serious pain, though. When I looked in her eyes, I could tell that she was so sad and confused about why she was hurting so much. That look always broke my heart, and I tried to explain to her why these bodies are worth it, even though they can hurt so much.

I remember holding Madeline late one night, just rocking and crying and praying. Deep inside, I knew that something was wrong, even though everyone told me not to worry. That night I sensed that Madeline has an absolutely amazing spirit--that she is just so good--and I thought about how incredible it is that Heavenly Father trusts me to be her mother. It was such an overwhelming feeling, especially when I felt so absolutely powerless to alleviate her pain. But that night, I felt honored to just hold her and love her and let her know that it would be okay. And I felt honored that she already loved me and trusted me, even though I'm just a frail mortal myself and couldn't make everything okay right that moment.

It is amazing how quickly one tiny baby girl became the absolute center of our thoughts and prayers.

Read part 2 of Madeline's diagnosis story here.

Alles ist in Ordnung!

So I've got about two seconds, but I just wanted to say that we're okay! Thanks so much for all of your kind words and prayers. Now that we've had some time to let it all sink in, we're feeling much better about everything with Madeline. She'll be okay, but we'll have a pretty big learning curve as we figure out how to deal with different issues that will inevitably pop up. Living with CF will be a new lifestyle. Dave for one wants Madeline to start playing the tuba as soon as possible so she can work her lungs (lungs are generally the biggest problem with CF). I just love the image of little Maddie and a tuba . . . It's Dr. Seuss-esque.

Anyway, just wanted to say that I'm not feeling as despondent as I sounded in the last post. Tomorrow we're off to Boston and Maine for a little adventure. I've seriously been obsessed with Maine just about my whole life, even though I've never been there, so I'm excited.

News

When I was nineteen, I studied for a semester in Vienna, Austria, with a group from BYU. We traveled around quite a bit while we were there, and at one point we went to Venice. During that trip, I went with my dear friends Mary and Rachael to a little island near Venice called Burano. What a gorgeous place. All the houses are painted bright colors and it's just darling. Well, Burano is famous for its lace, so the three of us decided to buy baby dresses that had a bit of lace on the front. I chose a white dress, and Madeline recently wore it for her blessing.

She looked good, I have to say, and it's kind of fun to have a story behind her dress. I especially love Madeline's smile in this next picture. She knows how to make me melt.

So, I appreciate the supportive comments you left on my recent post about Madeline's health. On Thursday we went back to Primary Children's, and the doctor called us that evening with an official diagnosis: Madeline has cystic fibrosis. I can't believe I just had to write that, but it's true. She really has cystic fibrosis. I've cried a lot since we found out, but I'm also glad we finally know what the problem is so we can get Madeline the help she needs to stay healthy.

Neither Dave nor I have any known history of cystic fibrosis in the family, so this really feels like it's come out of nowhere. (That's common, though, with recessive traits.) Also, we apparently have really, really, really uncommon mutations of the gene, because Madeline was already screened for the mutations that cause 95-96 percent of CF cases (and 100 percent of CF cases in Utah), and she was negative. Talk about winning the genetic lottery. Although I've got a lot on my mind right now, I'm not sure what else to say. I am happy to report that Madeline is now well over seven pounds and steadily gaining! Go, baby.

An ounce a day keeps the doctor away.

That's Madeline's new motto for weight gain. She finally crossed the six-pound threshold (looks like we'll have to make good on that party we promised her), and today she weighed in at a whopping six pounds, five ounces. It's amazing what a few extra ounces can do; her little feet are even starting to get chubby. You laugh, but it's true. Look at her cute double chin:

So, you might be wondering what's going on in this picture. Last Thursday we spent a long and exhausting day at Primary Children's Hospital, where we were referred to a nutrition clinic to investigate Madeline's slow weight gain. When this picture was taken, her arms were all wrapped up for a sweat chloride test in which she did not sweat enough to produce a sufficient sample, despite having heat packs strapped to her arms and being wrapped in several heated blankets. She also had some other lab work done, and we had a thorough consultation with a pediatrician and a dietitian. My poor babe was simply wiped out by the end of the day.

After all of that, we found out that Madeline lacks an enzyme needed for properly digesting food and absorbing fat. The two most common reasons for this problem (a pancreatic insufficiency) are cystic fibrosis and Shwachman-Diamond Syndrome. It could be something else altogether, but those are the biggest suspects. For now we'll start giving her an enzyme before every meal, in addition to giving her iron drops and a daily dose of vitamins. We'll also keep meeting with the specialist to get to the bottom of this problem. I'm nervous, quite frankly.

When I look at Madeline's perfect little face, it's hard to believe that anything is wrong. She seems so healthy, albeit small, and she's incredibly alert and responsive. I simply adore when she breaks out in a grin, and there is nothing more perfect than just snuggling a warm little bundle of baby. I love it. Whatever her problem turns out to be, I know she'll be okay. Modern medicine is incredible, and with the proper medication, she'll have a normal, happy life. But even though I know that, it still doesn't feel okay.

I guess we'll just see where things go from here. Any prayers are appreciated.

The Babylein

Let me just say that Madeline is too skinny. Cute, yes, but way too skinny for being six weeks old. She's still only 5 pounds, 12 ounces (two ounces over her birth weight), putting her squarely into the lowest percentile for weight. I guess someone has to be that small or all the chubby babies couldn't shine by topping the charts . . . At any rate, Madeline eats enough and seems to be healthy in every other way, so her slow weight gain has really puzzled the pediatrician.

Yesterday we spent a few hours at the hospital to get Madeline's blood and urine samples taken. What an experience. She was poked a million times and even had to get a catheter. I felt so sad for my sweet little baby . . . getting a catheter is not how I personally would want to get woken up from a nap. Seriously, I almost wanted my mom there to comfort me while I comforted Madeline. Who knows if I'll ever outgrow that. I'll be eighty years old with white hair and wanting to hold my mom's hand when I have to do something tough.

Madeline was a champ through the ordeal, and we gave her a sticker afterward so she would feel better. And then we gave me a lime rickey so I would feel better.


We did find out from the lab work that Madeline is anemic, and the anemia could be contributing to her slow weight gain. It would be nice if that's the answer because it's a fairly easy fix. We started her on iron drops last night, and now the trick is simply getting them into her system because they are nasty. Have you ever smelled your hands after running them along a metal railing? Yeah, that's how her medicine tastes. Poor kid.