Technically I'm a Mutant

Cystic Fibrosis is caused by genetic mutations, so technically I'm a mutant, but sadlyI don't have any super powers (unless you count turning into a human salt lick after a work out or being able to swallow a handful of pills without choking).

In order to inherit CF a person must get one defective (mutated) gene from each parent. A person with only one mutation is a 'carrier' of the CF gene. When two carriers have a child, there is a 25% chance the child will be born with CF, a 50% chance a child will be a carrier, and a 25% chance the child will not have CF and not be a carrier. Thank you high school biology!

There are roughly 1900 different mutations of the CFTR gene that can cause CF, which means that there are millions of different combinations of mutations. Since every mutation presents differently, you can see why CF is a difficult disease to treat. We're all super special little snowflakes that need individualized care to be at our best health.

My specific mutations are Delta f508 and G542X. Delta f508 is the most common one. About 90% of people with CF have this (or two of this) mutation. G542X is the second most common with about 5%. According to a chart I found published in 2012, there were about 2,100 CF patients with my same mutation combination, out of roughly 70,000 CF patients worldwide. So essentially I'm super duper special!

For more information on CF mutations or more specifics about the science behind CF please visit CFTR.info or cff.org.