Week 189: In bloom

Spring has definitely sprung in Wisconsin, even if the temperature is still be quite chilly. The forsythia has its first tentative yellow blossoms, the garlic and rhubarb in our back yard have sprouted, and my new hobby of leafing through seed catalogs and dreaming is in full effect.

With these blossoms comes our old friend pollen. We know that Lemon has seasonal allergies. We deployed the bedroom air purifier, complete with brand-new HEPA filter. We went up from one daily dose of Zyrtec to two. We added Flonase back to our daily routine. And, I think, by and large, our approach is keeping things in check so far. Lemon still has some coughing and sneezing, but not too much. Of course, my subconscious refuses to update its operating parameters with information about the new season, so every time I hear Lemon cough in his sleep, I bolt awake, with my subconscious saying "Red alert! Cough detected!" Then, it takes a moment or two for my conscious mind to over-ride the distress signal with a "Hush, it's just allergies. And it's 1 a.m."

We continue to make incremental progress towards the new things I'm working to access for Lemon. After several phone calls with 4 different offices, I now have a range of estimates for how much it will cost us to take Lemon for a consult in Milwaukee. Of course, they can't tell you exactly which of the 5 numbers they quoted will be the right one (and actually it's 10 numbers because there's one bill from the hospital for the use of its space, and a second bill from the organization that employs the doctors for the use of the doctor's mind). But, we have a sense of what the minimum and maximum charges are and are comfortable with moving forward. So, I'm hoping to find time to reconnect with the social worker there and actually schedule something for June, once Lemon is done with school for the year.

We're also incrementally closer to getting started with feeding therapy. Our insurance agreed to cover at least the first few sessions, which is great, so I need to fill out a few more forms (there are ALWAYS more forms) and then we can schedule his two-hour evaluation. We're supposed to bring a selection of several foods that he will eat, and several foods that he's likely to reject. Suffice to say, the latter category will not be an issue. He did totally surprise me by eating several pieces of fresh mango at dinner tonight, so that's something.

This week featured some exciting news from the CF research world: Vertex announced the results of two clinical trials on its latest drug combination that treats the root cause of CF. You can read the press release here. One trial tested the drug combination in patients with two copies of the common F508del mutation, and the other tested the same combination in patients with one copy of F508del and one "residual function" mutation. A residual function mutation is one in which the CFTR protein (that is missing or defective in patients with CF) isn't totally missing/defective. Patients in both studies saw a significant improvement in lung function compared to patients who took the placebo, and patients with two copies of the F508del mutation also had a very significant reduction in pulmonary exacerbations. This is very exciting, even though Lemon's second mutation isn't traditionally classified as a "residual function" mutation. It does mean that we are one step closer to a drug combination that will directly help him--take a look here to see all the exciting things that the CF Foundation has coming down the line.

As you all know by now, research costs money. We're in the midst of our annual Great Strides fund raiser now, to help provide the CF Foundation with the resources it needs to continue this amazing work. To those of you who have already donated to our campaign, thank you, thank you, and thank you. For those of you who haven't donated yet, please visit our fundraising page. With the announcement of these latest clinical trials, we're so tantalizingly close to the medicine that Lemon desperately needs--please help us get there!

Week 188: For the record

This week, we began our adventure in eating therapy. On the recommendation of our dietitian, I contacted a private clinic here in Madison that does feeding therapy and set up an introductory consultation and visit to the clinic. The day of the appointment arrived, and I was extremely encouraged by the following piece of dialog that occurred as I attempted to convince the star of the show that we should leave the house:

Lemon: Where are we going? 

Mama Bear: We are going to a special clinic to talk to someone about eating, to see if we can find more things that you like to eat. 

Lemon: Will there be toys there?

Mama Bear: Yes, there will probably be some toys in the waiting room that you can play with. And then we will go to talk to someone about eating.

Lemon: And I will tell them, "NO!"

On that note, we drove over to the clinic where, thankfully, there were a bunch of toys that Lemon could look at. We met with someone on the staff there who did a quick interview to assess our situation. I gave her a summary of Lemon's eating habits, such as they are, and then she asked me to list some foods that he will eat. I listed red pepper, donut, pepperoni, ice cream, apple, cheese, and Pirate's Booty. She reviewed the list and said, "Well, he doesn't seem to have a problem with textures at least." So, that seemed positive. After touring the facility, we went home to complete a three-day eating diary and a bunch of other forms. I will now share with you, for the record, the entirety of what Lemon has consumed by mouth in the last 72 hours:

Saturday: 2/3 slice white toast with Nutella; 1 gum ball (this came on the top of a rather magnificent-looking Easter-themed donut where the gum ball represented an egg, and I cannot tell you how delighted Lemon was when I explained to him that gum was a food that you chewed and then spit into a napkin instead of swallowing, he could scarcely believe his luck); 1/4 slice American cheese, 1/8 slice pepperoni, 6 1-inch cubes cantaloupe.

Sunday: 2 cubes of watermelon, 2 pieces of Pirate's Booty, 1/3 juice box (at his friend's birthday party); 3 tablespoons chocolate ice cream

Monday: 4 Teddy Grahams, 1 oz milk; 1 oz milk

That's it. Maybe 400 calories in 3 days if you round up. Kind of a long way from the 1500-2000 calories a day that he needs. So, this marks our starting point, and we'll see where we go from here. At least we have a lot of room for improvement?

Papa Bear joked that just for comparison I should keep a 3-day diary for Lime, but I can't simultaneously do that and prevent him from snatching a stick of butter off the counter and taking a big bite out of it, so I'll have to pass. 

Thanks so much to everyone who has donated to our annual Great Strides campaign so far. If you haven't yet, don't worry, there's still time--just head right on over to our team page and make your contribution. And if you're local and want to actually walk the walk with us, go ahead and sign up as a team member, we'd love to have you!

Week 187: Live long and prosper

Had you asked me 3 months ago whether we would make it from one regularly scheduled clinic visit to the next without a sick visit or a hospitalization in between (given that the months in question were January, February, and March), I would have laughed at you. But, thanks to the power of Cayston, we did it. Our appointment went quite well, another minor miracle. Somehow, without really telling me about it, Lemon managed to pack on a pound and a half between when I weighed him at home last and when we got to the clinic. So, although if you average out from December until now, he isn't quite meeting his weight gain goal, he isn't doing half badly, either. We talked with our dietitian, and decided not to go up on the tube feed amount for now--we'd like to keep Lemon a little hungry, just on the off-chance that he decides to eat any solid food ever. On that note, I've got him scheduled for an evaluation at a feeding clinic later this week, so more on that soon I imagine.

After the clinic visit part of the appointment was over, we stayed on to help out with a research study. I would say participate, but it wasn't exactly that. As many of you know, a key measure of disease severity in CF is pulmonary function, which can be measured by two tests. Our center is going to participate in a new study that requires the use of these tests in kids aged 3-6, so they need their operators to prove that they can get accurate results in kids that young. When we got called to participate, I was a little skeptical, since Lemon is not exactly at the most cooperative stage of life, but I'm vehemently pro-research so I figured we should try to do whatever we could to help.

So, after the clinic appointment, we went to the pulmonary function lab to see what Lemon would do. He actually did much better than I expected at the first test, aided by a computer screen that displayed a birthday cake with candles that went out when he blew in the tube correctly. I think we got at least one trial on that was good enough to help certify our clinic staff. The other test was not as successful--that one required having a mask form an air-tight seal on his face for several consecutive minutes. He wasn't afraid of having a mask over his face, but he had to sit really, really still in order for the mask to maintain its seal. And sitting really, really still is something he is really, really not good at right now. So, for that test, we weren't able to get a run that was good enough to count towards certifying the operator. Honestly, watching both tests made me wonder how accurate they can be in kids as young as Lemon--it seems like we really need some other ways to measure lung function in kids this age.

In other news (literally--this story has been picked up a lot of places including the New York Times and the Washington Post), a study came out last week that found that patients with CF in Canada have a median survival that is 10 years longer than in the US. Both countries had similar survival up until around 2005, when the length of survival in Canada started to pull away from the US. There are a number of factors that may have contributed to this difference. The Canadians figured out the importance of a high-fat, high-calorie diet for CF patients earlier on (in the 1970's) and it took some time for that finding to be broadly applied throughout the US. So, adults with CF in Canada may be reflecting a benefit of that early childhood nutrition that the US patients missed. A higher percentage of Canadian CF patients get life-extending lung transplants than is seen in the US (although even in Canada, the percentage of CF patients who get a lung transplant is pretty low, just over 10%). So, what is behind this big difference? A key clue is that patients in the US who have private health insurance live just as long as Canadian ones (who all are covered under Canada's single-payer healthcare system). In other words, access to healthcare matters tremendously, and the importance of healthcare access is made starkly and unequivocally clear by a challenging medical condition like CF.

This study makes another important point, though, which is that everyone benefits from the study of CF and other rare diseases. Rare diseases like CF are the ones that have detailed registries to enable research like the study we just talked about--research that drew on almost 3 decades of meticulous record-keeping and follow-up. Rare diseases are at the cutting edge of personalized medicine and gene therapy, leading the way for strategies to tackle more common ailments like cancer and diabetes. Rare diseases are at the forefront of health economics, testing how the tremendous cost of these personalized medications can be borne in the face of finite resources.

Of course, to me, research on rare diseases is more than a societal good, and more than a scientific interest. To me, it is a very personal passion. The progress that has extend the lifespan of CF patients from 5 years in 1950 to 40.6 years (in the US) or 50.9 years (in Canada) today is astonishing, but obviously there is more work to be done. And the registries, the research on genetics, the development and testing of drugs, the design of gene therapies? That stuff is expensive. In this day and age, when federal support for medical research may be wavering, research supported by private foundations like the Cystic Fibrosis Foundation is more important than ever. So, please click here and donating to our Great Strides team to sustain these life-saving efforts. It's incredibly important to our family, and--in ways that we can't necessarily anticipate yet--it will be important to yours.

Week 186: The year of the tube

Hard though it may be to believe, it has now been a full year since Lemon had his G-tube placed. A year since I spent 6 nights in a hospital with a toddler and an infant (no, I don't have any recollection of how that worked). A year of figuring out how to use this new tool that we'd been given to wield in our fight with CF. It's a fitting time to reflect--just last night, I spent an hour on the phone with another mama who is standing where I stood a year ago, trying to figure out if taking this big step would be the right decision. For us, I think there can be little doubt that it was, but the road between the day of the surgery and today has not been an easy one.

A year ago, Lemon weighed 25.4 lb and was in the 6th percentile for weight. Today, he's 36 lb, and in the 80th percentile. Before, he was in the 30th percentile for height, and now he's in the 70th. Before, we couldn't get enough vitamins and fat into him to get him to be even at the lowest end of the "normal" range on a number of nutritional tests. Now, we've had to cut back his daily multivitamin dose by half so that he doesn't exceed the normal range. The numbers speak for themselves.

But, the tube is a tool, not a magic wand, and it's taken us some time figure out how to use it. We had to figure out what a "normal" g-tube site looks like, what an infection looked like, what granulation tissue looked like, and what do do about each of those things. We had to figure out how much formula Lemon could tolerate, and how fast, and how many hours had to elapse between the end of the tube feed and the start of his morning therapy. We had to learn how to do daytime bolus feeds, and figure out how to incorporate them into our daily routine. We had to learn how to swap out the G-tube itself when the old button was worn out (and what worn out even means in a G-tube button). We had to let Lemon learn the wet and messy consequences of disconnecting the tube during the night.

I think the biggest lesson we had to learn was about how to use the tube when he was sick. I had the idea going into this that the tube would allow us to keep him fully nourished while he was ill. For him, at least, that's simply not the case. Tube + illness = vomiting. It took us a few times to absorb that lesson, but I think we've mostly got it now. What the tube does mean for us is that we don't lose quite as much ground when he's sick as we used to, and whatever ground we do lose we can make up very quickly. It also means that we can keep him hydrated and bypass ye olde gag reflex when giving bad-tasting medicines, both of which are really invaluable benefits.

I'd really hoped that, with the tube, Lemon would learn how to eat. I thought that if we could just take the pressure off of him, and let him eat whatever he wanted, not just rich, high calorie foods, that he would find things he liked and enjoy eating them. Not so. If anything, I feel like the security of the tube has let him be as weird about food as he likes, because some part of his reptile brain knows that he's getting the calories over night, so there's no incentive to eat actual food during the day. From the beginning, I'd imagined it would be a few years at least before we'd be ready to wean him off the tube, but now I really wonder if even that estimate was optimistic. Now that we're used to the tube, though, I'm in no rush to get him off of it. I suppose some day, he'll be ready. Or not: there are plenty of adults with CF who have tubes and do overnight feeds to keep up with their caloric needs. But, once he turns 18, I'm not getting up at 3 a.m. anymore to to turn off the pump!

I almost never plan blog posts in advance, but with the anniversary of Lemon's surgery this week, I'd been carrying around a sketch of this week's post in my mind all day. Of course, the one time I actually have a plan, an exciting research paper come out the same day. But, it would be too long a post to do both things at once (and a girl's gotta sleep sometime) so I'll talk about the research paper next week. It ties into a lot of themes from my day job and current events so I"m excited to write about it and give it the space that it needs. So, do your homework, read the abstract for the study in the Annals of Internal Medicine, and come back next week!

Week 185: Plateau

I've always felt that with CF, we swing back and forth between focusing on pulmonary symptoms and focusing on nutrition. When Lemon was really young, those cycles were quick, almost dizzying. Now that he's older, the cycles have lengthened out. Sometimes, they get so long that we forget that we're even cycling. But, we still are.

Since we tried Cayston, I've gradually allowed myself to hope that we finally have a non-IV intervention plan that actually works. We're nearly done with our second 28-day cycle (thank heavens!), and Lemon is at respiratory baseline, no cough, full of energy. With spring around the corner, I am growing increasingly optimistic that we will make it through winter without another hospitalization. We know now to anticipate the spring allergies and not get spooked by them. We've got our air purifier and Zyrtec and Flonase ready to go.





In December, we really thought we had nutrition figured out. Lemon had hit 36lb. He was at 80th percentile for BMI. His blood levels of various vitamins and fats were in great shape. So, we started coasting. And I should have known better, because I know too well what happens when you start coasting with CF. It catches up with you. Guess how much Lemon weighs now, 3 months after that amazing weigh-in in December: 36lb; no net weight gain in 3 months. He lost a bunch when he was sick, then gained it back quickly, and that's about it. I'm quite sure he's gotten taller over the last couple of months, since his ankles seem to be sticking out of every pair of pants he owns. Taller but not heavier means BMI going down, and we can see it--there are lot more visible bones and muscles than there used to be. So, at our clinic visit next week (how can it be that 3 months have already gone by since our last visit?), we'll have to retool our nutrition plan again.

The other thing I've been wondering about a little bit is whether it is time to reconsider the idea of some kind of eating therapy for Lemon, because he is still soooo resistant to eating. We offer but don't push, we encourage, we praise, we present choices...and nothing. Tonight's dinner was about 15 minutes of drama for 2 bites consumed. Aside from a few bites of graham cracker or whatever at school snack, that was it by mouth for the day--and we would consider today a good day because he did eat a few bites of dinner. I feel like developmentally he's light-years ahead of where he was the last time we tried eating therapy, so maybe it's time to try again. With school letting out for the summer, maybe it would be a good time to focus on something different.

Just to keep things interesting, Lime has developed into an expert climber--a skill that Lemon never really honed to this degree. Lime will drag any kind of chair or stool around to his desired point of embarkation, climb on it, and head for the stars. Or the top of the dining room table. Or the kitchen counter. Or the top of his changing table. Or any other nearby surface that might hold something of interest, particularly something edible. He is also still waking up really, really early. This despite the fact that every night, as I put him in his crib, I say, "Good night, see you in the morning, not too early!" At this point I'm actually looking forward to the clocks springing forward. Assuming he stays anchored and the clock shifts around him, I can look forward to sleeping in until 5:30 sometime soon!

Oh, yeah, and happy birthday to Papa Bear--I guess that was this week, huh? ;-)

 

Week 184: Write now

Here's a little good news as we head in to Rare Disease Day tomorrow. As many of you know, writing isn't just my hobby, it's my profession as well. Since Lemon was diagnosed with CF, I've been looking for a way to use my skills to benefit the CF community. So far, that's meant this blog. And a lot of emails to various people at the CF Foundation saying, "Hey, I'm a medical writer AND a CF mama. Let's do something." Finally, 3.5 years in, one of those emails landed in the right place, and I'm going to be developing some scientific content for the CF Foundation's website over the next few months. I'm so glad to have finally gotten this opportunity, and look forward to sharing the results with you in the coming months.

On the home front, things are pretty much business as usual, which, for us, is awesome. We are into our third week of Cayston so we are over the hump on this course and we're feeling cautiously optimistic that we may make it until spring without landing in the hospital again. I've finally made contact with the clinic in Milwaukee, so who knows, sometime before the end of the summer we may actually get seen there. The social worker that I spoke to there really impressed me with her knowledge of the disease and the steps she wanted to take to get us seen. She's presenting Lemon's case and what we want out of our consult to the doctors at their clinic's weekly team meeting, and she'll find out who might be the best person for us to see. Then, there's the little matter of paying for it, but I have a call in with patient accounts there so we'll see what they come up with. 

This week, Lemon went on his first ever school field trip. He and all his little friends rode on a school bus to a local pet store, where the store manager showed them lots of animals that they could touch and hold. Unsurprisingly, Lemon was about 100x more excited about the school bus than the animals. He kind of liked feeding the fish, but the rest of it (rabbit, guinea pig, puppy, parrot, snake, chameleon, gecko, star fish) didn't do much for him. He mainly wanted to know when we could go and ride on the bus again. To each his own. I went along on the trip as a chaperone--I'm guessing the only one with a spare G-tube button in her purse, but you never know. 

Week 183: Half way there

And, just like that, we are half-way through the 1/3 year. Lemon passed the half-way mark yesterday, and I feel like since we started Cayston and have CF at least vaguely under control, Lemon has actually had the chance to just be 3 and really figure out how to be a kid. Since we've started our current round of Cayston, he's managed to gain back 2 of the 2.8 pounds that he lost when he got sick again, which is amazing. It's clear from his activity level and feisty-ness that he's got lots of energy again, and he's plowing some of that energy into some big cognitive leaps.









I'm seeing this mostly with his social development. Up until now, Lemon mostly cared about himself, the main grown-ups in his life, his brother, and the cat. Other kids were at more or less the same level of interest as the cat--they moved around and made noise, which was interesting, but that was about as far as it went. Now, all of a sudden, he's figured out how much fun it is to play WITH other kids. On Saturday afternoon, it was freakishly warm, and I tried to convince Lemon to go on a special mother-son walk with me where he could ride his balance bike. I got a whole lot of nope until I suggested that we could go meet one of his little friends who lives down the street. Once he knew she was coming, too, he couldn't get his helmet on fast enough.











Lime is clearly moving from being 1 towards being 2. He definitely says fewer words than Lemon did at the same age, but his comprehension of spoken language, gesture, and facial expression amazes me every day. Lemon understood a lot of words at this age too--but mostly just the words about the things that interested him the most (truck, steam roller, helicopter, fire engine--the important stuff). Lime seems to know the word for just about every object or action he's ever seen. We FaceTimed with Uncle Jared this weekend on my phone, so Uncle Jared's face was about the size of a postage stamp. Lime was captivated anyhow, and Uncle Jared kept pointing to different non-nose parts of his face and asking Lime "Is this my nose?" Every time, Lime shook his head, until Uncle Jared finally pointed at the nose, at which point Lime nodded vigorously. And we're talking about a few pixels representing a guy that Lime probably barely remembers seeing in person. Crazy, I tell you.

















It's felt like such a gift to have a "regular week" again, although the price for this regular week is doing 3 treatments a day, day in and day out. Anything is better than being in the hospital, but even after just 10 days we're getting pretty sick of it, and it seems like the rate at which the little vials of Cayston disappear from the box in our refrigerator just isn't fast enough. Part of me is tempted to explore whether we could possibly do a 14-day course of this (analogous to a 14-day course of oral antibiotics) instead of 28 days. After all, we're using it off-label so who knows what the right length is for Lemon? I'm not going to try it this time, because I just want to make sure Lemon clears this thing and gets to spring without further incidents. But, I'll bring it up at our next clinic visit and see what kind of response I get. It's hard to believe, but we've been without a pulmonologist for a year now. We've made it this far, but I am really ready to have someone steering the ship again!