P67L Forum

Wow Wow Wow

I cannot convey how excited I am. In a nutshell I have had two poeple on this forum look me up as we share the same very rare P67L mutation. The second was a girls father, she had just been diagnosed. After speaking with me it gave him the idea that it woudl be nice if otehrs with this mutation could all chat because so far the 3 of us with teh mutation had so much in common and our cases are considered 'atypical'. He felt my experience thus far gave him a guide to look at when considering how his daughter might do.

To date there are just a couple tidbits published about P67L saying that it in 1998 it was confirmed to be the 4th mutation inferring a dominant mild affecft and the average age at dx was 22.5+/-11 years. That it occurs in 1.4% of scottish CF chromosomes, most patients are pancreatic sufficient and have sweat concentrations in the 57+/-9 range. Well the guy I have been talking about established a website www.P67L.com which we in just one month have gotten together 6 people with the mtuation and have a lead on a good few more. Now we have interest from a top UK doctor who will be presenting an abstract at the anaheim CF conference and perhaps later doign a study on us all.