Huge Enzyme Win!

Yesterday might have been a normal day for you. But for Madeline, it was life changing. For the first time in her public education, she stuck a bottle of enzymes in her backpack before going off to school and administered the enzymes to herself at lunch. So simple: sit down, take enzymes, eat lunch. But until yesterday, that was against the rules. This is something we've been fighting for the past six years, and getting this medical accommodation granted is one of my proudest accomplishments. 

At age six, Madeline attended her first full day of school as a first grade student at our local elementary school. As all the other first grade classes lined up for the cafeteria, Madeline stopped at the nurse's office to swallow her enzymes, essential medication that makes it possible for her to digest food. Without taking enzymes before every meal and snack, her body is completely unable to process what she eats, leading to severe stomach cramps and poor weight gain, or even a bowel blockage. Enzymes work best when they are taken immediately before eating. They are critical for her, and harmless to anyone else. (Everyone else just carries enzymes around in their pancreas. Easy.)

That first day of first grade, the nurse was ready. Madeline took her enzymes and then headed to lunch. Later that week, however, things didn't go as smoothly. By the time she took her enzymes and got to the cafeteria, the line snaked out the door. Her classmates were already settling in at their tables, but she dutifully joined the end of the line and waited to get inside. By the time she sat down, there were only a few minutes left to eat. Not good for a child who needs to consume 150% of the calories of an average person simply to maintain weight. Not good for a child who has already taken enough enzymes to digest a full meal but is now essentially eating a snack.

After we discussed it with the school, Madeline was given permission to go to the front of the line after taking her enzymes. After all, it was the trip to the nurse that was slowing her down. Even though the nurse tried to prioritize Madeline, she was sometimes busy caring for other students and Madeline was forced to wait for a few minutes, cutting even further into her precious lunchtime. Worse, she was spending that time in the nurse's office in close proximity with sick children, and as a cystic fibrosis patient, even a minor illness could lead to missed school, a hospitalization, and even long-term lung damage. 

The next time Madeline encountered a line for the cafeteria, she started up to the front as instructed. A cafeteria aide immediately yelled at her to return to the back of the line, to her rightful spot as a latecomer. If something similar happened today, Madeline would speak up for herself. As a tiny six year old in a big new school, however, her rule-following heart and respect for authority won out. She moved to the back of the line. She got to the table later than most of her classmates. She didn't finish her lunch. And a few hours later, she had a stomachache.

Someone at the school later let the cafeteria aides know to watch for Madeline, and she was given a pass to show anyone who questioned her cutting in line. She was also given a five-minute head start so she could get her enzymes from the nurse without losing any time from lunch, and a buddy to go with her to make it more fun. She was even granted extra time to eat lunch if necessary, but what first grader wants to miss out on class activities just to stay behind and eat? Everyone at the school was beyond helpful and kind. But if Madeline had been allowed to administer her own enzymes at school, all of that could have been avoided. Sure, she was only six, but she had been swallowing her own enzymes since she was 12 months old and was already perfectly capable of remembering to take them before eating. In fact, she had consistently done so the year before as a student in a private kindergarten, and she was also used to handling her own enzymes in church classes, on playdates, and at home.

It's not that we weren't requesting this accommodation. As part of Madeline's 504 plan, which outlines any necessary health accommodations, we asked that she be given permission to self-carry and self-administer her enzymes. The answer was always a resounding no. We asked in first grade, we asked in second grade, we asked in third grade, and so on down the line. No, no, no, no, and no.

But why?

We were always told that self-administering enzymes was against Pennsylvania state law. This is not accurate, and there are scores of children throughout the state taking enzymes on their own, but it is the answer the state Department of Health (DOH) gave whenever the school district asked if it was okay to permit someone with cystic fibrosis to self-administer enzymes. My understanding is that when we pushed further, district officials consulted with their solicitor and were essentially told to follow the instructions they had received from the DOH. And when we asked for legal justification to back up the DOH's claim, the DOH simply followed up with the same circular logic they had given us before that didn't actually say that self-administration of enzymes was not allowed. 

The exact legal reasoning behind all of this isn't necessary or interesting to explain here, but it was a frustrating cycle that led to lots of meetings and phone calls with the district, letters from Madeline's pulmonologist, tears from me, an attempt to schedule a formal mediation session through the state, more tears, a huge 504 meeting with both the school district and Madeline's care team present (thanks, Zoom!), and yes, even our own consultation with an attorney. Madeline's pulmonologist and dietitian went above and beyond to advocate for her. After all of that, the school district was willing to go back to their own attorneys and re-examine the issue. Apparently they ended up consulting with *several* sets of attorneys, and although I have no idea what went on during those discussions, the end result was a glorious phone call that I received on Monday: Madeline now has permission to self-carry and self-administer her enzymes. Hallelujah!

I want to emphasize that we worked with very kind people in the district who simply felt the matter was out of their hands once they received (poor) advice from the DOH. We especially love and appreciate both school nurses that Madeline has worked with over the years, and the willingness of Madeline's teachers to be flexible and creative to make her trips to the nurse's office as simple and nondisruptive as possible. They really are the best, and the self-administration question was not at all up to them.

What astounds me, however, is that for six years we have repeatedly asked for the same thing using essentially the same arguments, and the same solution has been there all the time. And yet it took this monumental effort to push for a change, and to get the district to believe in us enough to challenge their own legal counsel to be more thorough. If the district hadn't done that, we would have taken the next step, which is a formal due process hearing wherein a judge essentially hears arguments from both sides and makes a binding decision. I am (somewhat) confident we could have won with an attorney at that stage, but it would have cost a whole lot more time, money, and goodwill.

It would have been so easy to give up a thousand times along the way and say: That's just the way it is; some things will never change. But check out these life-changing things Madeline can now do (or will be able to do in the future), simply because we never gave up:

• Eat lunch at school without going to the nurse's office
• Take an extra enzyme mid-way through the meal if she realizes she's eating more than usual or gets seconds
• Eat a snack without taking time out of class to go to the nurse's office
• Avoid being unnecessarily exposed to germs each time she takes her enzymes
• Optimize the effectiveness of her enzymes and feel healthier
• Eat that random treat a teacher or friend gives at an after-school activity or sports practice, rather than saving it until she gets home because the nurse is no longer available
• Attend a school sleepover or dance and eat any of the refreshments without asking special permission or slipping away from her friends
• Visit a friend's house after school without me dropping enzymes off a day in advance so they are available just in case they want to eat a snack
• Go on a field trip or other school-sponsored event without having a nurse tag along every moment (this will increasingly become a big deal as she gets older!)
• Be able to eat in the event there is a school emergency that prevents her from coming home or getting to the nurse at the usual time
• Eat whenever the heck she wants to eat

I'm sure there's more. Food is so central to our existence. But in the end, I really only know two things: (1) I'm super happy and grateful that Madeline now has permission to take her enzymes wherever she goes, and (2) I can never move to a different school district and go through this process again.

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.

What It's Like to Wonder if Your Baby Has Cystic Fibrosis

Hazel and Jacob

Each of our babies has a 1 in 4 chance of having cystic fibrosis. So far we have elected not to do an amniocentesis during pregnancy to find out whether our babies have CF. At this point, knowing wouldn't really change anything for us, and even though the risk of amniocentesis is small, there's still a risk that feels unnecessary. Instead, we collect the baby's cord blood at birth and send it off for genetic testing.

That's great, and the baby doesn't even have to get poked, but it still leaves us wondering for 3-4 weeks after the birth what the results will be. That's after already wondering for 9 months. Honestly, when I'm pregnant I try not to think about it too much because obviously worrying won't change anything. But once the baby arrives and is actually depending on his or her pancreas to survive, it's just impossible not to think about it.

So here are some of that things that go through my mind while we're waiting:

• Phew. She's passing meconium. That's a good sign. If she has CF, at least she doesn't have a bowel blockage. (This occurs in about 18 percent of babies with CF.)
• Are her stools turning yellow yet? Please, please, please turn yellow. Oh good. They turned yellow. Now please stay yellow.
• Do those diapers look like they have mucus in them? Hmm, hard to say. I think they look normal, but it's been a while since I looked at a newborn diaper.
• Did she gain any weight since we checked a couple of days ago? Oh good, another ounce. That's great. Please, baby, keep growing. (Yes, we have a baby scale.)
• She's 11 days old and she hasn't started projectile vomiting . . . Madeline was 10 days old when the vomiting started, so this is a good sign.
• Fabulous, she re-gained her birth weight and she's not quite two weeks! She's not growing super quickly, but she's certainly growing. Keep it up, baby!
• Does she taste salty? No, but then again, newborns don't really sweat anyway. Hmm.
• She's a little bit fussy tonight. Normal fussy or having-severe-gut-pain fussy? 
• She gained a few more ounces!
• Is that the beginning of a double chin? And look at her thighs; it seems like they're starting to fill out just a bit.

And so on. This isn't a constant internal dialogue. We aren't fretting over this every day or losing sleep over it. But we think about it, and we talk about it, and we watch for the signs so we can be prepared and know when to seek more help.

Violet gained weight slowly but surely, and by the time we got her results back, I was reasonably certain (or at least very hopeful) that she didn't have CF. Jacob gained weight so crazy-fast that the pediatrician weighed him on three different scales during one visit, just to make sure we were getting an accurate reading of his weight. Because of his superb weight gain and lack of any other symptoms, we would have been floored if he had CF. So far Hazel is looking pretty good, but she's on more of a Violet path than a Jacob path, so we shall see.

Four more days.

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.

You know your daughter has CF if . . .

. . . she hears you ask a neighbor girl to try her carrots and cucumbers and pipes in enthusiastically, "They're good! You can dip them in salt and ranch dressing!" Let's hear it for a diet full of extra salt and fat.

The Vest

I've mentioned several times that Madeline uses a vest as part of her CF treatments, but I've never really explained what it is. Before I get into the details, doesn't she look lovely modeling the vest with her fake pearls? There's no reason you can't be stylish even when you're wearing a vest that is shaking you like crazy.

So, when Madeline was younger we did her chest physical therapy (CPT) manually, with a hand-held percussor that we pounded on her chest, back, and sides. The vest has the same purpose: it's used to loosen and clear out the mucus in Madeline's lungs. It inflates with the two hoses that you see in the pictures and then vibrates at a prescribed frequency, essentially sending pulses of air through the vest at incredibly fast speeds. This shakes her chest wall and loosens the mucus in her airways so she can cough it up.

You can see the actual machine running the show in the picture below:

We first got the vest back in September, when Madeline was about 19 months old. We had been told not to expect it before she was two, but she had gotten big enough for it to work. Her chest had to be 18 inches around before the doctors would fit her with a vest.

Getting a vest is really a major life change. And although there was a big learning curve, just like there is with any new treatment, having a vest has been nothing short of amazing. When we were still doing manual CPT, Madeline was just getting so wiggly and resistant and all-over-the-place that it was difficult to do her treatment at all, much less feel any confidence that she was actually getting an effective treatment. Now, as long as I can convince her to put the vest on in the first place, we're good to go. We usually spend most of the time reading books, but Madeline is much more free to play with toys or color or do other random activities while she's vesting, and she really thrives on that freedom.

Another bonus of the vest is that we can do her nebulizer treatments at the same time. This saves us a half hour of treatment time each day when she's healthy, and a full hour of treatment time each day when she's sick. (She nebulizes hypertonic saline when she's sick in addition to her regular nebulized medication, which is Pulmozyme.)

We do the vest for an hour each day, 30 minutes in the morning and 30 minutes in the evening.

For the most part, Madeline is easygoing about her treatments. She hardly ever wants to get started, but she rarely makes a big issue out of it, and she's almost always fine once she just gets going. It's actually remarkable to see how completely unfazed she is when you see how hard the vest actually shakes her. She likes that it makes her voice sound funny, and she also really likes to clip all the buckles and snap on the hoses and press "start." She knows how to set it up all by herself, actually, although I doubt you would ever catch her doing so voluntarily.

Madeline also prefers to hold her own spacer (for albuterol before her vest treatment begins) and nebulizer and is actually fairly responsible at keeping them in place. I like to let her do as much as possible for two reasons: (1) She's more willing to do things if she has some control over them. She's two, after all, so independence is a big thing. (2) Her treatments are a lifetime thing, and she needs to learn to be responsible for them at some point. She might as well start young and be completely comfortable with how everything works.

And on that note, there's nothing like asserting your independence by cramming yourself into a small box just because you can.

You know your daughter has CF if . . .

. . . she can say treatment, enzyme, vitamin, Prevacid, nebulizer, spacer, and vest by the time she's two.

CF Update

Today Madeline had an appointment at the CF clinic in Salt Lake. She is supposed to routinely visit the clinic every 3 months, and somehow the next visit always comes up much sooner than I had anticipated. I always think, "Didn't we just do this?" And really, we kind of did.

Today's visit was kind of fun because we hadn't been to the clinic at Primary's since last May, right before we went to Europe. (We went to a CF clinic in Pennsylvania two times last fall, so she was still getting her three-month check-ups.) Madeline dazzled everyone with her brilliant smile and her beautiful, curly hair. She is generally pretty low-key about visiting the doctor, but today she was exceptionally calm as she was weighed and poked and prodded and listened to. She did not like the blood draw, but she tried to be so brave about it and let me pretend that it was super cool to see her blood fill up the tube. And now she'll tell you that it's red.

The moral of the visit was that she's doing awesome in most respects. Lungs sound good. Weight gain has slowed down more than they would like, so we're supposed to increase our efforts to make her fat. More cheese, more butter, more olive oil, more Pediasure, more half-and-half, etc. (Weight is important because while it's difficult for people with CF to gain weight, a healthy weight leads to better lung function in the long run.) We'll see what we can do to make her plump up a bit.


They also gave us some larger enzyme capsules to experiment with that have twice the amount of enzymes in one capsule, meaning Madeline would only have to take 2 pills with meals and 1 with snacks instead of 4 and 2. She doesn't mind swallowing 4 pills at a time and is actually quite good at it, so I don't know that this matters one way or the other. The only reason I would care is if she couldn't swallow these new ones, because there's no way I'm going back to the days of opening the capsules and dumping the enzymes onto applesauce. Life is so much easier now. Anyway, we tested the bigger pills out tonight and she swallowed them without much of a problem (we had to remind her not to chew them, but sometimes we have to do that with the smaller ones too). So we'll see.

And since Dave didn't have class today, we topped our clinic visit off with a fun trip to the zoo. There is no better way in this world to make Miss Madeline a happy girl. And just so you know, if you accidentally say that she's a baby, she'll say, "No, girl!"

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.

CF Anniversary

Exactly one year ago today, we got a phone call from a doctor at Primary Children's Hospital that changed our lives forever. We knew the call was coming, but we hoped the news would be different. Instead, we found out that our beautiful and perfect baby girl has cystic fibrosis.

Our feelings about her diagnosis are so much different today than they were when we first found out, as we knew they would be. And we're so grateful for that. I'm planning to write the full story of her diagnosis this weekend, along with sharing some of the things we've learned during the past year. For now, look at the contrast between the baby we had last year and the little girl we have today.

You have to know that in the above picture, Madeline was eight weeks old and just barely over six pounds. See how baggy her onesie was? It was still the newborn size, along with her diaper and everything else she was wearing. And her thighs only have bulk because warming pads were strapped to her legs and then wrapped up. This picture is of the first time Madeline had a sweat chloride test done, which is the test that determines whether a person has CF. She was too skinny to sweat that day, so we did not get the official diagnosis until two weeks later when she had gained some weight and had another test done.

Today, though, Madeline looks good.

And we feel very blessed.

Our CF Regimen

Many people have asked how we care for Madeline regarding her cystic fibrosis. Since we've finally got her routine under control (for now), I thought I'd share what we do each day to keep her as healthy as possible. First, though, it's important to know how CF affects the body. I wasn't clear on the details myself until Madeline was diagnosed, so I'll explain quickly.

CF causes the body to make extremely thick, sticky mucus that leads to problems in the lungs and the digestive system. Because the mucus is so thick, it builds up in the lungs and can't be coughed out very easily. Bacteria gets trapped, causing lung infections and ultimately lung damage. This eventually leads to reduced lung function.

The mucus prevents the digestive system from working properly by clogging the pathway from the pancreas to the small intestine. Since this path is blocked, enzymes necessary for digestion never get to the small intestine, thus making it impossible to absorb fat or break down most food. That's why Madeline only gained six ounces in the first nine weeks of her life. Although she was eating and eating and eating, the nutrition she got from her efforts was basically just enough to sustain life. Once she started taking replacement enzymes, she gained six pounds in nine weeks. Impressive change, I would say! People with CF generally need to consume more calories than the average person, so Madeline likely has a future of adding cream, butter, and lots of cheese to every meal. Possibly the only benefit of having CF.

Now for our CF regimen. It has required a lot of trial and error to find the best way to do all of this, but for now we've got it down. First of all, Madeline takes enzymes before every meal, something she'll do the rest of her life. The enzymes come in capsules that are filled with small beads, like this:

Although Madeline is, of course, an extremely advanced baby, she can't swallow pills yet. Instead, we open the capsules and mix the beads with a couple spoonfuls of applesauce. (The acidity of the applesauce prevents the beads from breaking down before they get to her small intestine.) This part of the routine has gotten much easier now that she knows what to do with the applesauce; we used to just shake the beads into her mouth instead.

Madeline also takes iron drops every day because she is/was anemic. Giving them to her undiluted is what you might call less effective. Instead, we either mix the drops with sugar water or make her a little "iron shake" of iron drops and breast milk. In these forms, she's not a fan but she'll still look you in the eye afterward. I put this mixture in a medicine dispenser that my friend Natalie told me about:

Next up in Madeline's regimen is Prevacid for acid reflux. Thank heavens for Prevacid! She was seriously a new woman once we started giving her this medicine every day. Pre-Prevacid, she would sob from 10 p.m. to 2 a.m. every single night because she was in so much pain. This was also before she started taking enzymes, and the discomfort of reflux was compounded by stomach cramps that were caused by not being able to digest her food properly. (She'll probably be on an acid-reducer the rest of her life because it helps the enzymes work better.) Madeline loves, loves, loves taking Prevacid because it comes as a yummy strawberry-flavored solutab. It makes me feel like I'm giving her candy. She deserves it.

Because Madeline can't absorb the fat-soluble vitamins on her own (A, D, E, and K), she also takes vitamins that are specially formulated for CF patients. Our first attempts at getting the vitamins into her system looked something like this:

I have a big orange stain on my carpet to match. Luckily, however, we soon switched to a different brand of vitamins that's not as nasty and not as orange. I mix the vitamins with some breast milk (also in the medicine dispenser) and call it a VitaSplash to make it sound more appealing and smoothie-esque. Madeline always thinks she's getting a big treat when she gets her daily VitaSplash.

We also give Madeline an extra 1/8 teaspoon salt every day (people with CF lose too much salt through their sweat). Have you ever tried to give a two-month-old baby salt? Or a five-month-old baby, for that matter? Yeah, not easy. I still haven't figured out a great way to get the salt into her system. I do throw a dash of salt into both her iron shake and her VitaSplash, and I also salt her daily bottle (one bottle of breast milk that is fortified with formula to add calories). When she starts eating solids, I'll salt her baby food and it should be a lot easier to reach 1/8 teaspoon.

At the CF clinic this week they told us to start Madeline on the highest calorie vegetable (sweet potatoes) and to introduce meats fairly soon because of the protein. They also said we should add some type of fat to all of her vegetables, meaning any oil or butter. Madeline's baby food is going to be far tastier than what most kids get, that's for sure.

We also recently started chest physical therapy, or CPT. Right now we do it once a day for about 30 minutes. Pretty soon we'll start doing it morning and night, though, and CPT will just be a regular part of Madeline's routine for the rest of her life. The goal behind CPT is to loosen the mucus in her lungs so she can cough it out before it causes lung infections (and thus lung damage).

When we do CPT, we start out by giving Madeline albuterol through an inhaler. The albuterol opens up her airways and makes it easier for the mucus to drain out. Then we take a manual percussor and percuss eight different areas on her chest, side, and back. The percussor looks like this (Madeline's is pink):

Madeline isn't the world's biggest fan of CPT, but she's a good baby and she lets us do it, albeit with a lot of wiggling. Sometimes I sing or Dave plays the piano so she has something else to think about besides the CPT.

Well, that's our day in a nutshell. Madeline's got a lot of equipment for a little baby, but she also gets to do cool things like eat applesauce before other kids and drink a daily VitaSplash. For the most part, she's extremely easygoing--a real star at putting up with everything we do, which is a big blessing.

See what I mean?

Team Madeline

Tomorrow my family and I are participating in a walk for cystic fibrosis. The walk is put on by Great Strides, an organization associated with the Cystic Fibrosis Foundation, and the idea is to raise money that will support research on CF. Which will then, of course, lead to better treatments, a longer life expectancy, and eventually a cure.

Since Madeline was diagnosed with CF, I've learned how much progress has been made on this front in just the past several years. It’s really incredible. When my parents were born (not that long ago), kids with CF weren't expected to make it to elementary school. Then they were lucky to get to high school graduation. Now the median life expectancy is 37.4 and rapidly climbing.

Let's face it, though: 37 is still really, really young. This number should go up as people grow up with better treatments, but it can only skyrocket if CF research is both extensive and ongoing. For that reason, it would be fantastic if any of you donate to the cause. Anything helps.

Clicking the widget on the top right side of my blog will take you to a page where you can donate. (Some of you may have already done so through my sister’s blog—we’re on the same Great Strides team.) And if you’re in Provo and want to participate in the walk, you can join our team on the same page. We’re planning on going to Seven Peaks afterwards, so it’s sure to be a grand time!

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.