P67L Abstract for CF Conference

Note this was not presented at last minute, we are hoping for the next conference perhaps though we have already 'found' 28 CF'ers age range 0-50 spanning multiple countries, of the estimated 150 individuals with this mutation via our website.



Here is the abstract that will be presented at the big Anaheim conference this year about our website/forum. I am so excited abotu this and hope it will result in more people joining our forum. It is estimated based on it rarity that there are only 200 individuals worldwide (of course I believe that is due to alot of us 'CF oldtimers' not beign diagnosed yet).

TITLE: WWW.P67L.COM: PATIENT DRIVEN COMMUNITIES IN RARE CYSTIC FIBROSIS MUTATIONS ABSTRACT BODY: BACKGROUND: Continued developed in the detection of CF mutations combined with a rollout of newborn screening is leading to the detection of groups of patients who form a very small subset of the total number of CF cases. If a CF clinic has one of these patients they will generally have no baseline for comparison and in general published series are small. A group of patients with one of these rare mutations, P67L (0.2% incidence worldwide of CF patients), has self formed into a community which can share information about diagnosis, treatment and prognosis. The aim of the community is to allow these patients to share information in such a way that could potentially benefit themselves and their treating physicians through the sharing of knowledge that may be specific to their mutation. P67L is a mutation found in CF across the world, but more frequently found in patients with Scottish ancestry. METHODS: The internet provides the perfect medium for connecting a disparate group such as individuals with a rare mutation. In April of 2007 one parent created a website called www.p67L.com and using shareware was able to create a forum style website very quickly and at little cost. Word was spread by posting on several health related bulleten boards looking for other people with P67L and also the metatags on the website were adjusted to increase it's positioning in a google search.The forum was set up as a closed website meaning that it is password protected so that search engines cannot get 'inside'. Access to the forum has to be requested through the administrator who vets out applicants first to ensure they have a valid reason for wanting into the forum. RESULTS: Within three weeks of being created the forum had 7 patients or caregivers in active discussion ranging from ages 18 months up to 39 years and located in US, Canada, UK and Ireland. Although prognostic conclusions are difficult draw from relatively small patient numbers, there are some interesting information from those already in the group: Pancreatitis seems to have occured in a three patients, but only in their teens and two patients have had their gallbladder removed. DISCUSSION: The P67L.com community is already providing support to parents and patients with this rare mutation. It is hoped that the internet system will enable patients to better understand the symptoms they may experience. We would warmly welcome clinicians inviting their patients with P67L to join the community of patients and parents at P67L.com