Monday, January 26, 2015

Week 75: Lime!

Well, folks, the title says it all.  We are thrilled to announce that Lemon's little brother will arrive sometime in late July of this year.   We know more or less for sure that it's a boy, but we don't know yet about CF status and won't know until he's born--there's a 75% chance that he will be healthy, and a 25% chance that he will have CF.

As with all CF families, we had some long conversations about whether and how to expand our family.  The right choice is different for every family.  For ours, we feel that we are unbelievably fortunate to have the stability, the resources, and the support to raise a second child regardless of diagnosis.  We feel so optimistic about the state of CF research now and believe that medicines to treat the underlying cause of the disease for most patients will be available in the next decade or so.  We also love Lemon with all our hearts and could not imagine our family without him.  So, we decided to roll the dice again.  Obviously, we fervently hope for the best, but we are already in this fight to win, and we will fight equally hard whether it's for one child or for two.

Monday, January 19, 2015

Week 74: Hot stuff

On the downside, it looks like the New York Times won't be running my letter.  On the upside, they did run one from Dr. Robert Beall, President and Chief Executive of the Cystic Fibrosis Foundation.  If I were petty, I might point out that they gave him 262 words, 87 words more than the guidelines say would be allowed.  But I'm not petty, I'm glad they ran his letter.  It is in large part due to his leadership that we have the famously expensive Kalydeco (the first drug that treats the underlying cause of CF), as well as numerous much less famous drugs and therapies that have nonetheless been essentially in achieving an eight-fold improvement in the length of patient's lives over the past six decades. You can read his letter here.

The opinion piece also got some attention from Forbes.  Perhaps not terribly surprisingly for a business magazine, they don't have much of a problem with venture philanthropy.  And, the author of the piece seems much more in touch with how drug discovery actually happens than the author of the New York Times piece: the NIH and other government agencies fund basic research, largely at academic institutions, that make the underlying discoveries that enable drug discovery.  But, the NIH and the institutions it funds are simply not equipped to carry out drug discovery and testing, which is where private industry steps in.  How does the NIH feel about having these fundamental discoveries used as the basis for the development of new medications?  Let's see what Francis Collins, director of the NIH and co-discoverer of the gene for cystic fibrosis, thinks about the CF foundation using venture philanthropy to generate new medicines based on his discovery (quoting from the Forbes piece): "a dramatic example of risk-taking that has paid off in a remarkable way."  You can read the rest of the Forbes piece here.

Enough on venture philanthropy for this month!  We are soldiering along here through our second Wisconsin winter.  I am told that there was actually a bit of a January thaw this weekend, although sadly I didn't really make it outside to enjoy it.  Lemon came down with some sort of virus on Saturday, and basically needed to sit on my lap in a semi-stupor all day.  By evening his temperature was 102F, so we called the pediatrician, who said to give him Tylenol and to be on the safe side bring him to the ER.  But, for us, the ER (especially on a Saturday night) hardly feels like a safe place--who knows what kind of disease-ridden college students will be lurking there?  Since Lemon was aware, responsive and well hydrated, we decided to just go with the Tylenol and see what happened.  We gave him a dose right before putting him to bed, and checked on him a few times during the night.  His temperature dropped down quickly and never came back up, thankfully.  He was still clearly not feeling well on Sunday and refused to eat anything thicker than diluted fruit juice, but by this morning he was back to his usual self, except for his appetite, which was still pretty marginal.

It's amazing and frustrating as the parent of an underweight kid to watch those precious ounces just melt off.  72 hours with little to no food and I feel like all the work we did in the last month or so just evaporated.  Our next weigh-in is a week from Friday, so we will be on an all-out hidden calorie blitz in the next week or so to try and get things at least back to where they were, so he won't fall any further off his curve.  Then maybe in February we can open a discussion about getting back on the curve, where we were in, oh, November or something...

Monday, January 12, 2015

Week 73: Dear sir

My maternal grandmother was famous for cancelling her subscription to the New York Times periodically, when it ran an article she didn't like or when its coverage of the Martha Stewart case got on her nerves.  I've been reading the Times for most of my adult life, and it took until now for the paper to publish a piece that so infuriated me that I considered taking my grandmother's corrective action.  Ultimately, I decided that a more productive approach would be to respond with a letter to the editor.  You can read the infuriating opinion piece in question here:

There are so many things wrong with opinions expressed in this piece that I hardly knew where to start, and the Letter to the Editor format only permits 175 words.  So, here is my best effort, submitted to the editor this evening:

Dear Sir,

Although diseases like cystic fibrosis are individually rare, in aggregate rare diseases afflict nearly 1 in 10 Americans.  Thus, the recent contention by Llewellyn Hinkes-Jones that "researching extremely rare diseases may also represent a misuse of public and private funds" defies moral logic.  Nonetheless, rare diseases pose a significant challenge: developing treatments is expensive, and the resulting treatments are costly. 

Mr. Hinkes-Jones’ “solution” of increased taxation of the wealthy to grow federal research budgets, followed by price controls on the resulting drugs, represents pie-in-the-sky thinking of the highest order.  Those of us with loved ones suffering from rare diseases hardly have the time to wait for federal bureaucracies to attend to our ills.  The venture philanthropy approach vilified by Mr. Hinkes-Jones represents a proven model that can drive the development of urgently needed medicines in the here and now, without detracting from other publicly- or privately-funded research efforts.  

To the Cystic Fibrosis Foundation, whose visionary work has already extended my son’s life expectancy from 5 years to 39, I have only two words: thank you.  

Mama Bear

Monday, January 5, 2015

Week 72: One year later

This week marks one year exactly since we moved to Madison so it was fitting that we started off the week in our old hometown of Boston and wrapped it up here.  Here's what things looked like a year ago, aboard our amazing private flight to move out here to the southern edge of the Arctic Circle:

We had an amazing time on this trip "back home," and were so fortunate to be able to spend a solid 10 days in our former stomping grounds.  We visited with so many wonderful friends and relatives in Boston that I can't possibly list them all or show pictures of all of them, but here are a few representative samples:

Uncle Jared, Aunt Lauren, and Great Grandma Frieda

Lemon's new musical idol Great-Uncle Joel (and of course Great-Aunt Donna, not pictured)

Dear friend Jen and her little cutie Hannah who we met for the first time

And on and on.  Like our last visit to Boston, we had people scheduled basically every waking moment of every day, and managed to see almost everyone.  Leaving Boston for Madison this morning was definitely hard.  On the one hand, our life is very much in Madison now--our house, all our stuff, our jobs.  But, on the other hand, our life is still very much back in Boston, where we have such a strong community.  We keep reminding ourselves that it took 20 years to build our community in Boston, and that we won't forge the same connections in Madison overnight, but the contrast between the two places is pretty stark.

Lemon definitely views Madison as his home, though--he was delighted to be back in his familiar surroundings with all his toys and puzzles.  There were even a few new holiday treats waiting to greet him.  As those of you who know him personally are well aware, for the past month or so he has been absolutely obsessed with buses.  And, lo and behold, a bus of his very own was here to meet him when he arrived (thanks, Uncle Jared!).  He picked it up immediately, carried it all around the house, said the word bus about every 10 seconds for a full hour, and cried whenever anyone attempted to pry it out of his little hands.
There are a few holiday treats in store for me as well--it's snowing at the moment, and the forecast high temperature for Wednesday is -3F.  Welcome home?