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.