"It feels like I'm breathing through a straw"
September 26, 2014 7:59 AM   Subscribe

OneRepublic just released their latest music video, I Lived, which tells the story of Bryan Warnecke. He's a fifteen year old boy who cycled over a thousand miles in 43 days over 8 mountain passes, raising $260,000 for Cystic Fibrosis research. He also suffers from Cystic Fibrosis.

This genetic condition clogs the lungs and affects the digestive system. The mucus in the lungs is too thick, so it leads to life-threatening lung infections and ultimately lung transplants can be required. The median predicted age of survival for people with CF is in the early 40s.

There is no cure for CF, although treatments continue to improve. In the US the CFF focus is on drug-based treatment - recently Kalydeco was made available for sufferers with the G551D mutation (approximately 4% of people with CF), which radically improves mucus clearance by fixing a defective protein (CFTR). This protein is present but stuck - this drug unlocks the "gate" and allowing proper flow of salt and fluids in and out of the cell. This drug is being tested in combination with other therapies to treat people with the most common mutation (deltaF508), but this is a much harder problem to fix as the defective CFTR protein is not in the right place at the cell surface. The aim is to create a secondary drug which moves the blocked protein into the correct location, then allowing Kalydeco to open the gate.

In the UK the Cystic Fibrosis Trust is sponsoring research into gene therapy. This aims to introduce a healthy working copy of the faulty gene in cells in the lungs, correcting the underlying cause. The largest gene therapy trial in the world has been using liposomes to deliver the gene and has been ongoing for several years - results will be announced this October. A second version which aims to use a virus to deliver the healthy gene is in development.
posted by Stark (2 comments total) 6 users marked this as a favorite
Huge amount of respect for this young man and his parents. Watching his parents pick him up after a crash or take him surfing or letting him sled is just perfect. In one frame, he is tiny and falls over with his little kid ATV on him - they pick him up and put him right back on. It would be really easy to live from a position of fear in their situation, coddling him and keeping him from trying new things, but they don't. He had loads of natural courage obviously but they nutured it and that doesn't always happen with kids who are compromised in some way. Many parents of perfectly healthy kids could learn a few lessons there. Including me, to be honest.
posted by domino at 8:26 AM on September 26, 2014

This is the 2011 NEJM article on Ivacaftor (that was the generic name-- now Kalydeco). Coincidentally... I have to go and take an exam on this later today! Thanks for posting!
posted by gemutlichkeit at 8:30 AM on September 26, 2014

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