Monday, October 27, 2014

Week 62: Records

For a change I'll start with a brief update from my non-Lemon life.  Yesterday, I ran the Haunted Hustle Marathon, and put in a personal record performance at 4:11:35, good enough for 4th in my age group.  Admittedly the field was really small, but hey, top 5, I'll take it!  I knew that I had my two top fans cheering for me from home.  And I can almost walk today.  I'm glad to be heading into the off season--time to focus on a little more strength training, skiing, snowshoeing, and everyone's favorite, shoveling snow. 

Lemon is all done with his two weeks of antibiotics now and seems to be fully recovered from whatever was ailing him.  The antibiotics took a predictable toll on his digestive processes, culminating in some bad diaper rash this weekend, but that too seems to be fading now.  His appetite has picked up a lot over the past couple of days and I'm hoping that he'll gain enough weight between now and his checkup on Friday that he'll still be on his growth curve.

Lemon is continuing to learn more about his world, and more words to describe it.  He's said goodbye to some of his favorite toys of months past, including his little red cart.  I picked up a big wagon for him that some of our neighbors were giving away, and once that came into the picture, the little red cart was history.  At least he still loves his swing. 

I took Lemon to visit a potential preschool this week, yet another reminder that he is not so very little anymore.  We really liked the school.  Lemon liked it because there were other kids and lots of really interesting toys.  I liked it for those reasons too, but also because when I brought up CF, the school director was all over it.  They'd had some CF kids in the school recently, so she knew all about enzymes and infection control, and even offered to find the letter that the other CF parents had sent around to everyone explaining what CF is, and why it's so important not to send kids to school who might have a contagious cold or cough.  Seeing how prepared they were to handle Lemon's needs made me feel more confident that this first in a very long line of transitions will be smooth for him.  Or, at least, no less smooth that it would be for any other kid.

After all, we are still talking about my little baby, who, carrying on the fine tradition established by his dad and grandpa, sometimes falls asleep at the dinner table.

Monday, October 20, 2014

Week 61: Smooth

If there is something messier than teaching another human being how to eat, I'm ready to hear about it.  Lemon is well entrenched in that awkward stage where he basically refuses to take food offered to him on a spoon, because he is a big kid and can do it himself, thank you.  Except that, well, he can't.  There is yogurt in places in my house where there should not, under any circumstances, be yogurt.  The phrase "Oh, that's just a piece of french toast stuck to the bottom of your slipper" has been uttered.  We might need to get a sink strainer for our bathtub.

All of this is well within the norm, except for the fact that we're so worried about getting calories into Lemon, since he needs something like 1.5-2 times as many calories as the average kid.  Enter the smoothie.  Lemon is actually very adept with the sippy cup, so a few weeks ago I started making him smoothies.  Those early ones were just yogurt, milk, baby cereal, and heavy cream, but we've gotten much more sophisticated since then.  Now, we have flavors like carrot-pear, sweet potato-banana, and raspberry.  I've found that I can add tofu or hard boiled egg yolk, too.  As long as I put in a half-packet of vanilla Carnation Instant Breakfast at the end, it all goes down fine.  I've even kept Lemon up to date with the latest celebrity trends by making him green smoothies with spinach, although I suspect my version is ever so slightly higher in calories than what Gwyneth Paltrow's kids are drinking!

This week we took Lemon for his first hike at a nature conservancy near our house.  The weather was lovely and Lemon had a blast.  It was his first time riding in the backpack I got for him and he really enjoyed the view from up high.  I need to wear a headscarf or something next time, though, because he thought my hair was the perfect thing to hold on to as we made our way down the trail.  Later, he got out to walk on his own and held on tightly to the trail map in case he got lost.  A kind stranger who passed us as we were taking a break on a bench offered to take a family portrait for us.  As she correctly pointed out, "He'll be in college before you know it, and you won't have any pictures of the three of you because one of you is always holding the camera!"

Monday, October 13, 2014

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!

Monday, October 6, 2014

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