So if you’ve been following along, you know that we learned definitively a few weeks ago that Kid C has what has been classified as CRMS. As I said in that post, they didn’t have a diagnosis for this until 2009, when the best minds in cystic fibrosis treatment came together to try and cobble together some recommendations for the kids who, through genetic testing and sweat results, weren’t ever likely to develop classic CF, but had more going on that just being carriers for the disease. It’s a huge umbrella, under which kids with no symptoms at all to those with greater incidences of respiratory issues or pancreatitis fall.
Today we went down to Children’s, which has some of the best CF specialists in the country, to meet with a doc and do some baseline testing. Kid C had a chest x-ray done, a throat swab, and a stool sample taken. We talked with the doctor for an hour, almost, although a lot of it was just more acknowledgement of the fact that we don’t know what we don’t know.
Science is amazing, miraculous, and what we’ve been able to uncover in a generation of kids is truly remarkable. Kid C sits now in a group of kids from which future treatments will be determined. He’s part of the research pool, as people a lot smarter than I try to get their arms around what exactly CRMS means, and what the different variables in terms of type of mutations can predict in terms of the level of symptoms someone with his diagnosis can expect to face in their lifetime.
What we do know is this: his chest x-rays were perfectly clear. He is gaining weight and growing like a boss. His color is great, his development is on track, and every indicator we have suggests a normal, healthy child, and we intend to do everything we can on our end to keep him that way. As the doc put it, there are a lot of children she sees that she loses sleep over, but our kid is not one of them.
We’ll go back in four months, to check back in before cold and flu season starts. We’ll need to keep a closer eye on him during those winter months, because he’s at greater risk for respiratory issues. We’ll go back on his birthday, again, and then, if he continues to remain asymptomatic, we’ll probably only have to go in for annual checkups as he ages. That’s our goal.
I was reminded again of how lucky we are, as the doctor described the regimen that families touched by classic CF have to go through. If you are praying for our kiddo, please pray for them, too. We are blessed, too, to have access to amazing doctors - truly, Children’s is a fabulous facility with incredible staff whose love and affection for and commitment to children shines - and the kind of insurance coverage that makes all of this possible without any sleepless nights spent worrying about how to pay for it. And what we learn with Kid C, as he grows, will help other parents and children who find themselves in that doctor’s office for a routine follow-up like we did, so that maybe the world that unfolds in front of them in those breath-stealing moments won’t be quite so scary.
That’s our goal, too. If you’ve read all the way through this, hey. Thanks. The light and love of your thoughts and prayers has surrounded us and kept us optimistic. If you have a buck or two to spare and want to support Matt as he rides to raise funds for cystic fibrosis research this fall, you can do so here, and we’d appreciate that too. There are advances in the fight against this disease every day, and with your help, we can keep adding years to all the kids who struggle with this on a daily basis. That’s the end game here, and we can’t accept anything less.
5/31/12
5/30/12
my father's playlist
It started with a simple Gchat conversation. I saw my dad online, and started “singing” Ween to him. “Push th’ Little Daisies,” to be precise, which was prominently featured in an episode of Beavis and Butthead that I think we watched together once, the two of us cracking up in the basement of the house on Howard Avenue. He didn’t really remember it, and that’s okay, I remember it well enough for both of us.
What he did say was this: By the way, All Things Considered is doing something this week called something like “My Father’s Playlist.” I can think of at least two songs you could write about for them.
My dad loves music. It’s kind of funny, given that, to the best of my knowledge, he never really played any instruments seriously. There might have been a brief flirtation with a clarinet, and every once in a while he dances with a harmonica or, more recently, a bodhrán, but for the most part his infatuation with music is expressed via stereo speakers turned up just a little too loud for comfort. A trait, might I add, I have inherited from him.
I hadn’t really thought about it, before the above exchange, but there are a lot of memories of growing up, memories of him, that are inextricably tied to sound. Driving along the Beltline in Madison, helping him run an errand for work, his face all squinched up as he made me howl with laughter while he sang along to Phil Collins’ “Take Me Home.” Dancing around the living room to the Dead’s ”Casey Jones.” Listening to The Band while we drove up the mountains in Colorado.
The standout track, the defining one, is Paul Simon’s “You Can Call Me Al.” That whole album is pretty tremendous, and despite not having listened to it in years I can still probably sing it front to back, but that song in particular captured the imagination of the old man and me. We choreographed a dance to it, with hats as props. Somewhere, lost in the garage or in some forgotten box in a basement is a scratched out VHS tapes that captures those minutes for posterity, both of us giddy and goofy and enjoying the hell out of each other.
Being a parent is hard. Being a good parent is damn near impossible, when you think about all the variables involved. I don’t think I appreciated just how much until I became one myself. You give up on any notion of perfection pretty quick, and just hope that at the end of the 18 years in which you are charged with sheltering and nurturing and growing that you come through with a minimum of scrapes and broken bones, that somehow, amazingly, you and the life you created have some common ground, are still speaking.
But there are perfect moments. On the back of a motorcycle, riding along the Mississippi. The first plane ride, on a 747 bound for Phoenix. At the top of a hill in Spring Green, craning through a telescope for a fleeting view of a comet. Picking cotton on the side of a dusty Mississippi road. We’re going on an adventure, Gandalf. Dancing around the living room, tipping our hats at one another and making faces, singing at the top of our lungs.
String those moments together, pin them up on your wall, stand back and smile. Look at what you made, and maybe it’s not perfect, but it’s pretty damn good.
Turn the music up, Dad. I feel like dancing.
The playlist:
Bob Seger - Betty Lou’s Getting Out Tonight
The Grateful Dead - Casey Jones
The Band - Up on Cripple Creek
John Fogerty - Centerfield
Dan Fogelberg - Run for the Roses
Tom Petty - Free Falling
Jackson Browne - Running on Empty
Bruce Springsteen - Glory Days
The Traveling Wilburys - The End of the Line
Warren Zevon - Tenderness on the Block
Paul Simon - You Can Call Me Al
5/21/12
cftr-related metabolic syndrome (CRMS)
Cystic Fibrosis Transmembrane Conductance Regulator-related Metabolic Syndrome. That’s the full name. CRMS for short, and it’s the diagnosis we were eventually given for Rory.
I’ve never been on this end of things, never had to deal with tests and visits to hospitals and waiting for weeks for results, but what they told us, after he passed the sweat test, was that they needed to do some follow-up testing, on us. Simple blood tests, to find out who carried what, and if we’d need to pursue any further specialized care for the kiddo.
CRMS is relatively new, as a diagnosis. The syndrome itself has obviously been around for as long as CF has, but if what I’ve been reading is accurate it wasn’t until 2009 that the CF Foundation issued any guidelines for pediatricians in terms of standards of care for kids that fall under its umbrella.
Basically, it’s a catch-all for kids who are more than carriers, but don’t have both mutations necessary for a CF diagnosis. Rory’s genetic profile slots him in this category, though that doesn’t actually tell us much. We know enough about CRMS to know that we don’t really know yet how it is going to play out. Odds are good that Rory will be a healthy kid, even better because we know from the chromosonal sequencing that the variations in his mutation have, in other kids thus far, resulted in minimal complications. We’re really encouraged by that, and hopeful.
But it does mean that we’ll be seeing a CF-specialist at least a couple times a year, for the foreseeable, in order to track his progress and make sure he’s developing as he should be. That starts a week from Thursday, when we go to Children’s to get a baseline chest x-ray and meet with one of their pediatric pulmonologists.
There is so much to learn and I’m devouring everything I can but the literature for this little piece of the world is pretty scant, mostly because this is the first generation for whom screening is making such a big difference in when and how things are treated. I think Kid C’s going to be fine, and I’m secure in knowing that we have access to one of the best facilities for treating CF-related illness out there so that IF he develops any symptoms we can deal with them quickly.
Mostly I think science is amazeballs. I mean, what we know, and how we know it, and how much we know - down to incredibly specific genetic variants and how they will impact a prognosis, is insane. In good ways, at least in my experience. It makes me hopeful that the huge strides that have been made in treating CF in a generation mean that in another we’ll have gone even further, so Rory, and his brothers, who are possibly carriers, too, won’t have to go through tests and weigh odds and make painful decisions when it comes time to start their own families.
I want the people that I have come to know who are dealing with this disease in far more immediate and critical ways to have treatments and answers and more time, too.
The husband is doing Cycle for Life this fall, and if you happen upon this and decide you want to support the efforts to find better treatments and make more time, too, we would welcome that here: http://www.cff.org/LWC/dsp_DonationPage.cfm?idEvent=20015&idUser=559838.
Every day over the past two months I have been continually reminded that control is an illusion, that each day is a gift and each moment precious. Those are absolutely cliches, yes, but they are no less true because of the same. This whole journey has changed the way I look at the world and whatever wrinkles it has added, the discovery of gray hairs that it brought, every little bit has been worth it to understand that better, and fall in love with what I have a little more.
I’ve never been on this end of things, never had to deal with tests and visits to hospitals and waiting for weeks for results, but what they told us, after he passed the sweat test, was that they needed to do some follow-up testing, on us. Simple blood tests, to find out who carried what, and if we’d need to pursue any further specialized care for the kiddo.
CRMS is relatively new, as a diagnosis. The syndrome itself has obviously been around for as long as CF has, but if what I’ve been reading is accurate it wasn’t until 2009 that the CF Foundation issued any guidelines for pediatricians in terms of standards of care for kids that fall under its umbrella.
Basically, it’s a catch-all for kids who are more than carriers, but don’t have both mutations necessary for a CF diagnosis. Rory’s genetic profile slots him in this category, though that doesn’t actually tell us much. We know enough about CRMS to know that we don’t really know yet how it is going to play out. Odds are good that Rory will be a healthy kid, even better because we know from the chromosonal sequencing that the variations in his mutation have, in other kids thus far, resulted in minimal complications. We’re really encouraged by that, and hopeful.
But it does mean that we’ll be seeing a CF-specialist at least a couple times a year, for the foreseeable, in order to track his progress and make sure he’s developing as he should be. That starts a week from Thursday, when we go to Children’s to get a baseline chest x-ray and meet with one of their pediatric pulmonologists.
There is so much to learn and I’m devouring everything I can but the literature for this little piece of the world is pretty scant, mostly because this is the first generation for whom screening is making such a big difference in when and how things are treated. I think Kid C’s going to be fine, and I’m secure in knowing that we have access to one of the best facilities for treating CF-related illness out there so that IF he develops any symptoms we can deal with them quickly.
Mostly I think science is amazeballs. I mean, what we know, and how we know it, and how much we know - down to incredibly specific genetic variants and how they will impact a prognosis, is insane. In good ways, at least in my experience. It makes me hopeful that the huge strides that have been made in treating CF in a generation mean that in another we’ll have gone even further, so Rory, and his brothers, who are possibly carriers, too, won’t have to go through tests and weigh odds and make painful decisions when it comes time to start their own families.
I want the people that I have come to know who are dealing with this disease in far more immediate and critical ways to have treatments and answers and more time, too.
The husband is doing Cycle for Life this fall, and if you happen upon this and decide you want to support the efforts to find better treatments and make more time, too, we would welcome that here: http://www.cff.org/LWC/dsp_DonationPage.cfm?idEvent=20015&idUser=559838.
Every day over the past two months I have been continually reminded that control is an illusion, that each day is a gift and each moment precious. Those are absolutely cliches, yes, but they are no less true because of the same. This whole journey has changed the way I look at the world and whatever wrinkles it has added, the discovery of gray hairs that it brought, every little bit has been worth it to understand that better, and fall in love with what I have a little more.
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