May is Cystic Fibrosis Awareness month! LET US TALK ABOUT IT. Research has made extraordinary strides--but we still don't have a cure. It's actually super interesting and sciencey and will reinspire your faith in human ingenuity and stuff (maybe), so hang with me. The basics! CF is a genetic disease that primarily affects the lungs and digestive system. It's a recessive gene, so both parents have to be carriers (1 in 25 peeps with European ancestry are; 1/46 for Hispanic, 1/65 for African, 1/90 for Asian) at which point there is a 1/4 chance of a child being born with CF. Because of the gene in question, cells end up missing some or all of the specific instructions on how a human body's cells handle salt coming in and out of them, and to compensate, the body overproduces a thick, sticky mucus in the lungs, pancreas, and digestive system. That's really hard on the body; it makes it hard to break up food to get nutrients, and keep your lungs clear. Now for the research! Maybe you've heard of Kalydeco (or, just recommended for approval yesterday Orkambi). If you haven't, you should look them up. Because they are life changing for subsets of the CF population. Up until the creation of these drugs--and hopefully more to follow--treatment of CF was primarily supportive. Enzymes to help break down food, vests that shake your chest wall to shake free mucus and make it easier to clear from the lungs, antibiotics (bacteria gets trapped easily in the thicker mucus), and ultimately diabetic care and transplants as CF takes its toll on the pancreas and lungs. These treatments have made an enormous difference in countless lives, but they aren't enough. Now, Kalydeco and Orkambi are interesting. Hop back to when we first started talking. Remember the salt and cells conversation? This is in no way a precise metaphor, but think of your cell like a house. In most houses, salt comes up to the front door, knocks, the door opens, and it comes inside. With CF, that front door may be on the side of the house. Salt waits at the front, but there is no door for it to get inside! In other cases, the door can't open quite all the way, it's sort of jammed half open and half closed. And in still others, it's jammed totally shut. There are four major "buckets" into which most mutations--of which specifically there are hundreds if not thousands--fall. Kalydeco (or ivacaftor) figuratively tells repair man to build a door in the front not the side, while lumacaftor (which when combined with ivacaftor becomes Orkambi) helps unjam it. In other words (and this is ridiculously important, read slowly and possibly in the narrative voice of your choice for retention) they effectively treat Cystic Fibrosis itself for about 30% of folks who have it; NOT the symptoms. On a cellular level. Think about that. That opens doors (pun intended) for so many other diseases. The more we understand the mechanics of cellular level and eventually genetic treatments of Cystic Fibrosis, the more quickly we can translate that knowledge to other more complex or less understood but similarly genetic diseases; sickle cell anemia, HIV, etc. But as awesome as that is, we aren't at the finish line. Kalydeco and Orkambi have to be taken daily and continuously to sustain treatment, and the former comes at annual USA price tag of $310,000. That's pretty inaccessible. And it still leaves too many with CF whose mutations are untreated except for symptomatically. But we are so, painfully close. Every step matters and every step counts, and if you help us get to the finish line you won't just help CF, but every genetic illness come closer to something you can read about in the history books. I don't have a team this year, but if you are inclined, consider a donation to the Cystic Fibrosis Foundation, a downright force of nature in moving forward. Help us add tomorrows.
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