Humanity is not the perfect species, there is no promise of healthy perfect babies, but few people become pregnant with the expectation of having a child with a life altering disease. Cystic Fibrosis is a genetic disease, and Ireland has the highest instance of CF sufferers in the world, and most couples don’t know a thing until they are presented with a ‘Salty Baby’.
CF affects the cells that produce mucus, digestive enzymes and sweat, hence ‘Salty Baby’. Instead of acting as a lubricant as in a non CF person, the mucus clogs pathways, predominantly in the lungs and pancreas. Nebulizers can help lungs to breathe more easily, and drugs, physio and enzymes do their part, but it is never enough. Some children are fed through a tube; others may have CF related diabetes, or collapsed veins from constant intravenous drips.
There is hope; it sits mired beneath a cloud of financial negotiations which ultimately determine; how to save a life. That hope is Orkambi.
Orkambi is a twofold drug, a combination of a corrector which fixes the broken protein and transports it to the cell and the chaperone which opens it at the cell wall to allow sodium and chloride to pass through. This means that the mucus produced by the mucus membrane organs (lungs, pancreas, intestines, etc.) is thinner and can be cleared from the lungs.
