Week 60: NACFC

This week, I left Lemon for the first time, to head down to Atlanta for the North American Cystic Fibrosis Conference (NACFC).  Of course, Lemon came down with a bad cough starting last Sunday night, so I was very nervous about leaving him even though he was in excellent hands, with Papa Bear, Nona, and our nanny all on hand to tend to him.

On Wednesday night, I packed nothing (I mean literally nothing--it's been a long time since I flew without a baby!) and early Thursday morning, headed off to Atlanta.  The conference was absolutely phenomenal, I loved every moment of it.  In the interests of brevity I'll just give you one or two highlights from each day.

On Thursday afternoon, I heard a great talk fro Dr. Samuel Moskowitz about a new method that might help to treat lung infections caused by the bacteria Pseudomonas aerugenosa  in CF patients.  A big problem with these infections is that inevitably, some of the bacteria survive the antibiotic treatment, and once the antibiotic is gone, they surge back to reestablish the infection.  So, Dr. Moskowitz wanted to discover new ways to kill these last few "persister cells" that survive the antibiotic.  Based on work from scientists studying a different species of bacteria, Dr. Moskowitz had the idea that the maybe the reason that some of the Pseudomonas cells survive the infection is that their metabolism is running very slowly--and the antibiotics require the metabolism of the bacteria to be active in order to actually kill the cells.  So, he tested whether giving the bacteria a jolt of a particular type of sugar could wake up their metabolism and make them susceptible to antibiotics.  And, lo and behold it did, at least in a test tube.  He's going on to test the method in mice, and if it works there, the next stop will be clinical trials.  The nice thing about the sugar is that it isn't toxic to people and their lungs, so in theory it could be a great way to make the antibiotics we're already using more effective, without exposing CF patients to any more toxic chemicals.

On Thursday evening, we had one of the high points of the entire conference, a plenary address by Dr. Michael Boyle, in which he gave an overview of the progress on CF research since the gene that causes CF (the CFTR gene) was first discovered 25 years ago.  He likened CF research to climbing Mt Everest, with the summit being a cure for all patients with CF.  25 years ago, we established base camp by discovering the gene, and then we got tangled up in the Khumbu Icefalls which is the complexity of a disease that is caused by over 1800 different mutations in the same gene.  Eventually we struggled through the Icefalls and arrived at Camp I, which was the discovery and approval of Kalydeco, the first drug that treats the underlying cause of CF.  Now, it looks like we have a pretty clear shot at Camp II, which would be the approval of a drug combination that would treat the underlying cause of CF in almost 50% of patients.  It was an incredibly inspiring talk, with a special video guest appearance by Dr. Francis Collins (director of the NIH and co-discoverer of the CFTR gene) and if you have time I definitely recommend watching the recording--you can find it  by clicking here and registering.

On Friday morning, the plenary session was entitled "CF Microbiology: Past, Present, Future."  It was a great talk (video also available) but in the height of irony I had to keep running in and out of the talk as I was on the phone back and forth with our CF clinic to get an antibiotic prescription set up for Lemon, who's cough wasn't getting any better.  We wanted to be sure that we had an action plan in place before the weekend, and since I couldn't do any of the dosing or extra PT at long distance, I took over the prescription ordering.

One big disappointment on Friday that all along we'd been promised that the results of a new gene therapy trial ongoing in the UK would be presented at the conference.  On Thursday, we got the hint that the results wouldn't be presented after all, and then in the session where the results were to be presented on Friday, the leaders of the study didn't show up or give a presentation at all.  Very frustrating for those who had been waiting with baited breath to hear the findings, but that frustration was overshadowed by really great results from trials of two different drugs manufactured by Vertex, one of which might help Lemon.

On Saturday morning, I heard the talk that perhaps affected my outlook more than anything else I heard at the meeting.  It was by Dr. Jerry Nick, on an "N-of-1" study design to look at the effects of Kalydeco in people with residual CFTR function.  The basic idea is that, as I mentioned, CF genetics is actually quite complicated.  We don't really know what the impact of a particular mutation in a particular person will be, and even now when we usually know both of a person's CFTR mutations, it's hard to predict from that knowledge alone how the course of their disease will go.  Part of that difficulty arises because the CF mutations are operating the context of the rest of that person's genetic makeup, and a particular person may have other genes that maybe give them a little bit more CFTR activity than you'd predict from their mutations (if they are lucky), or a little less (if they are less lucky). 

So, Dr. Nick started from the premise of saying "Let's care less about genotype (the mutations someone has) and instead just look at function (whether the person has clinical evidence of some CFTR function left).  If the person has evidence of a little CFTR function, let's test Kalydeco and see if it works."  And, lo and behold, Kalydeco does seem to work in at least a subset of patients with some CFTR function left, even those whose mutations aren't on the current "approved" list for the drug.  And, importantly, one of those mutations is one of the ones Lemon has, and when he was diagnosed a key test showed that he probably does have some CFTR function left.  In other words, a drug that's already FDA approved for CF could really help him.  Now, how to get access to it for off label use--but that's a whole different post. 

As a parent, I am so thrilled and relieved and grateful to know that even if CF research stops tomorrow (which, judging from the level of commitment and enthusiasm at the conference, it definitely won't!) there is something out there for Lemon, and probably for a lot more CF patients than are currently taking the drug.  I'm even more excited by the momentum that I saw at the conference--many other drug companies have joined Vertex in the quest to find good drugs that treat the underlying cause of CF, and I am so hopeful that in the next 10 years, drugs will get approved that will help Lemon and everyone else with this terrible disease.  It was fantastic to have the opportunity to meet the researchers, physicians, nurses, respiratory therapists, and other CF parents (including friends I'd only met online before) who are in this fight with us, and to see how determined we all are.  The field has come so very far in the last 25 years, and the future is looking bright.  Thanks so much to all of you who have supported our fundraising efforts for the CF Foundation--this is the research you are paying for and it is fantastic!

Week 59: Separation anxiety

Fall has gotten started in a hurry out here on the edge of the prairie.  Last weekend, it was in the 70's during the day and gloriously sunny.  This past weekend was in the 30's and there was some form of vaguely solid precipitation.  I think our family officially passed some sort of test of "localness" when, on Saturday morning, we assessed the weather (aforementioned temperature and climactic conditions) and said "Hey, I bet the downtown farmer's market won't be crowded this week!"  And sure enough, we went, and it wasn't, and we got all kinds of good stuff.  Sadly there are only a few short weeks of outdoor farmer's markets left.

I also did our first round of raking, which Lemon found utterly hilarious.  I found it less hilarious since I could tell that there were still more leaves on the trees than on the ground.

We also had a wonderful, if far too short, visit with our friend Sheryl, who flew in to spend about 12 hours in Madison on her way to a meeting in Minnesota. It was so great to see her, and made me miss everyone "back home" all over again.  I've grown pretty used to living here now, but we still don't really have many friends (and certainly not any close ones).  Luckily we are going to be back east twice in the next few months so hopefully we'll get to catch up with everyone.

On Thursday, I'll be leaving Lemon for the first time and flying down to Atlanta for three days, to attend the North American Cystic Fibrosis Conference.  I'm very excited to go on a trip, and to immerse myself in all the latest news and ideas about fighting this disease (supported in part by all of you who have donated to the CF Foundation!).  Even for a seasoned professional, it's a daunting amount of science--here's the abstract book:

Although I'm excited about the trip I'm nervous about being separated from Lemon, especially since of course he came down with a cough last night.  We're amping up on chest PT and hoping he can kick it (or at least not get worse) before I have to leave. I look forward to sharing everything that I learn once I get back--I may even tweet during the conference, since that seems to be the thing to do these days.  So, follow along if you're into that sort of thing!  #NACFC

Week 58: In motion

This was a big week for physical activity.  Lemon finally figured out how to really walk unsupported, after lots of smaller attempts of a few steps each.  One morning he woke up and decided that he could do it now, and he's barely sat still (or crawled) since. 

Just in time for this major milestone, my dear friend and long-time cycling buddy Pamela came to town for a visit.  Thanks to tremendous support from Nona and Papa Bear, I was able to get out and relive my old, pre-Lemon life for a few days, and see some of the glorious countryside around where we live.  As I'd been told (and remembered from my cross-country cycling jaunts) Wisconsin is a grand place for road riding.  The weather cooperated beyond our wildest dreams, sunny and nearly 80 degrees every day--actually one of the best stretches of weather we've had all summer!  We climbed a surprising number of hills, ate some great food, caught up on many months worth of friendship, and thoroughly enjoyed ourselves.

 I'll just include a few pictures of scenery to give you all a sense of what you're missing, and remind you that none of these vistas are more than 25 miles from our house!

I definitely miss my old life, where a weekend riding like this was the routine rather than a rarity.  I miss being as fit as I was, and having as much time to pursue my passions as I did.  But, as Pamela rightly points out, I have a good life now, too--very different than what I used to have, but wonderful in ways that I couldn't have imagined before.  And it is encouraging to see Lemon growing more independent (at least in his mind) every day, and knowing that all this scenery will be out there waiting for me when I am ready to reclaim it.

Week 57: Taking care

This week, I have been thinking a lot about child care.  That shouldn't come as a tremendous surprise, I suppose--I am a working mom, and what working mom (or non-working mom, for that matter) doesn't spend some amount of time thinking about child care?  This week, it's been the attitude of several consecutive people about my child care arrangements that has really caught my attention.

At my job, I'm constantly meeting new people within our organization.  One of the first things they often ask me is whether or not I have any children (I'm going to skip the whole discussion of whether or not that's even an appropriate question to ask, and whether they would ask it of a male coworker in the same situation).  When I say yes, I have a son who just turned one, the next question inevitably is "Does he go to daycare?"  My answer to that is something along the lines of "No, he stays at home."  And, as far as I'm concerned, for a discussion in a professional situation, that is really more than enough.

But, a surprising amount of the time, people want to know more about this mysterious concept of the child staying at home while I'm not there.  Even more surprisingly, a lot of the time they go on to compare this arrangement unfavorably to a daycare center.  I've had multiple people tell me how I'm not doing my child any favors by preventing him from being exposed to the gamut of childhood illnesses by keeping him at home.  It's as though I'm spoiling him or failing to be sufficiently tough.  What places these (mostly male, mostly older) colleagues in a position to judge my childcare arrangements is a little beyond me, but clearly it's happened enough times to get under my skin.

I think I would find the whole thing absurd even if Lemon didn't have CF, but I find it all the more absurd since he does (a fact I don't generally share with my coworkers).  If I were a stay at home mom, would people tell me that I should put my kid in daycare for a few hours a day so that he could have the benefit of a bunch of colds and ear infections?

It's not like I don't understand where they're coming from--it is true that in order to become immune to things, you have to be exposed to them (see vaccination, which everyone should do).  So it is true that Lemon will be several years old before he is exposed to some things that other kids got in daycare.  And I am totally OK with that.  A person's immune system continues to mature and strengthen at least through elementary school age.  So, something that might have made Lemon really sick when he was 6 months old might just be a mild cold when he is 3 years old and his immune system is able to combat it more effectively.  Will he have more colds when he is 3 than is preschool classmates who went to daycare as infants?  Probably, but our bet is that he will be better able to handle them the older he is.  And, given the number of stay at home moms here in Madison, he won't be alone in having colds when he's 3.

Every family makes their own choices about child care, and those choices are among the hardest that families with young children have to make.  I am not advocating for our system over another; raising kids takes a team and who the members of that team are, where they are located and how they are compensated is something every family has to constantly define and adjust.  All I am saying is that our system works for us.  And I really wish people exercised a little more restraint in critiquing other people's child care choices, especially in the face of incomplete information.  Colleagues--I'm here at work without my kid, ready to get the job done.  So, let's focus our energy on that, shall we?

Week 56: All fall

This week we enjoyed a visit from one of my old cycling pals from Boston.  He lives in Oregon now, but his work with a bike company brought him to Madison, complete with a slick company car and the perfect hostess gift (future visitors take note!).  Lemon was quite suspicious of him, because he had a beard, but it was great to reconnect with the cycling community a little bit.  It's been strange to have cycling be so absent from my life after it was such a big part for so long.  I will return to it some day, I hope!

The other major highlight of the week was Lemon's first apple picking adventure.  We went to an orchard about 20 minutes from our house, which is basically the middle of nowhere.  It was a glorious fall day, and we did all the glorious fall things:

Looking at chickens














Tasting apples

Tasting pumpkin doughnuts (basically the only reason we could convince Papa Bear to come with us on this outing)

Going on a hayride

 Looking at pumpkins

 Fall is my favorite season of the year, and it seems to be every bit as glorious in Wisconsin as it is "back home" in New England.  This year, though, I face it with a bit more trepidation than I have in the past.  Fall is the season of pumpkins and apples and color, but it also is the beginning of the season of contagious disease.  The students (and whatever pestilence they harbor) are back on campus.  A serious respiratory virus is making its rounds in the midwest and in other parts of the country, sending hundreds of otherwise healthy kids to the hospital because they can't breathe.  People are coughing and sniffling and sneezing all around.  There doesn't seem to be enough Purell and flu shots in the universe to save us from all this.

I can't raise Lemon in a bubble, nor do I want to.  But the drive to protect him from all of these things is strong since I know the cost to him of he getting sick is so high.  It's a tough balance, especially with an increasingly mobile, curious, and willful little boy who is emphatically not a baby anymore (at least in his mind).  We take things one day and one action at a time.  Here's hoping that fall, and the winter that is coming all too soon, are beautiful, serene, and most importantly, healthy.

Week 55: Big city visitors

This weekend, we had a wonderful visit with Grandma and Grandpa.  They flew in from New York on Friday afternoon, and as soon as they arrived, Lemon got right down to business, showing them what a typical weekday afternoon is like here at our house in Madison.  Preferred activities include swinging and pushing one's cart up and down the driveway.

As the weekend went on, we hit a number of other highlights, including playing with the crayon mobile, looking at various plastic objects, reading books, and of course, napping (not pictured).  We pull out all the stops when we have big-city visitors to impress!

Overall it was a wonderful visit and Lemon got a big kick out of having two more adults around the house to amuse him.  The visit unfortunately had to be short, so we packed Grandma and Grandpa off to the airport on Sunday afternoon, and Lemon had to sleep for most of today to recover from all the excitement.

We did do an important deed for science today, though.  As many of you know, Lemon has been enrolled in a scientific study since he was born, looking at how nutrition during infancy impacts long-term health in people with CF.  Since he just turned 1, we had to do a detailed food diary for 3 days, recording every single thing he ate so that the nutritionist could calculate exactly how many calories and how much of various nutrients he was eating.  Also as part of the study, we were asked to mail in a little sample of the ultimate outcome of Lemon's digestive process for analysis.  I finally got around to that this morning.  Sorry, Mr. Mailman!  I hope I sealed that jar tightly!

Week 54: Six steps closer

The biggest news by far this week is that Lemon took his first few unsupported steps on Sunday afternoon.  I was out for frozen custard with a friend, and something caught his eye across the seating area.  Like Wile E. Coyote, he did just fine until he looked at his feet and realized what was going on, at which point he promptly sat down and hasn't walked an unsupported step since, despite significant parental encouragement.  So, unfortunately, Papa Bear hasn't witnessed this new milestone yet, but hopefully soon Lemon will have enough confidence to perform his new trick on a regular basis.  Yes, video to follow!

This week, we also got back the results of all the various bloodwork that Lemon had done at his one year checkup.  Overall, things are pretty good.  His liver enzymes are a little high, but that is pretty normal for a kid with CF.  His vitamins A and E, two of the vitamins in his delicious AquADEKs, were at the high end of the normal range, which is great.  Vitamin D, on the other hand, not so much.  He's still just below the low end of the normal range. 

So, now we're supposed to give him 2mL/day of the AquADEKs, and a further 3mL of D-Vi-Sol (the regular infant vitamin D drops) for a total of five times the normal dose for a kid his age.  For anyone who's counting, that's a pretty large volume of vitamins for a little guy.  Luckily he's still in a pretty compliant developmental stage.  We also learned that his iron is a little low.  He's not anemic but definitely at the low end of the normal range.  We've introduced spinach and yet another delicious vitamin (Fer-In-Sol) which are by far the nastiest tasting of the lot if you asked me. 

Other than those little things, all seems to be well with Lemon physically.  He's sticking to his growth curve in more or less the 25th percentile, and his nutritionist conceded that maybe her idea of having him really bulk up by drinking two cans a day of Pediasure was unrealistic.  His throat culture was normal again, phew.  So, we'll just keep on keeping on for the moment.  He has to gain about another kilogram before his enzymes will need to be adjusted again, and we're hoping he'll achieve that by his next doctor's visit, auspiciously scheduled for Halloween. 

In the mean time we're gearing up for a very special weekend next weekend--a belated birthday visit from Grandma C and Grandpa D, coming in all the way from New York City.  I'm sure if Lemon were capable of comprehending it, he'd be very excited!