mom2lillian
New member
Steve
I was wonderging if you woudl be able to provide me with the number of individuals who have been diagnosed with the mutation of P67L, does ambry keep track of such things? I am one of them and I have teamed up with another gentleman who's daugther was recently diagnosed. He has formed a website specifically for those with our mutation which is the 4th identified dominant mild mutation per a small paper published in 1998, it accounts for 1.4% of scottish mutations and 0.2% overall. We have been trolling all over the internet for members and are now having an abstract presented by one of the top UK doctors at the CF conference in Anaheim CA about our website. Our goals can be seen in the abstract which I have included below. I was hoping that by contacting you I could get some sort of estimate of how many individuals we might have out there. Since it is rare I am sure ther are a good number more that are undiagnosed adults running around out there like I was 6 years ago but there are also more babies being diagnosed lately when the doctors do a genetic follow up to a borderline sweat test.
Thanks very much for any help you can supply.
TITLE: WWW.P67L.COM: PATIENT DRIVEN COMMUNITIES IN RARE CYSTIC FIBROSIS MUTATIONS
AUTHORS (LAST NAME, FIRST NAME): Marshall, Tom 1; Hodge, Peter 2; Cunningham, Steve 1 INSTITUTIONS (ALL): 1. Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, United Kingdom.
2. P67L.com Community, Fort Lauderdale, FL, USA.
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
I was wonderging if you woudl be able to provide me with the number of individuals who have been diagnosed with the mutation of P67L, does ambry keep track of such things? I am one of them and I have teamed up with another gentleman who's daugther was recently diagnosed. He has formed a website specifically for those with our mutation which is the 4th identified dominant mild mutation per a small paper published in 1998, it accounts for 1.4% of scottish mutations and 0.2% overall. We have been trolling all over the internet for members and are now having an abstract presented by one of the top UK doctors at the CF conference in Anaheim CA about our website. Our goals can be seen in the abstract which I have included below. I was hoping that by contacting you I could get some sort of estimate of how many individuals we might have out there. Since it is rare I am sure ther are a good number more that are undiagnosed adults running around out there like I was 6 years ago but there are also more babies being diagnosed lately when the doctors do a genetic follow up to a borderline sweat test.
Thanks very much for any help you can supply.
TITLE: WWW.P67L.COM: PATIENT DRIVEN COMMUNITIES IN RARE CYSTIC FIBROSIS MUTATIONS
AUTHORS (LAST NAME, FIRST NAME): Marshall, Tom 1; Hodge, Peter 2; Cunningham, Steve 1 INSTITUTIONS (ALL): 1. Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh, United Kingdom.
2. P67L.com Community, Fort Lauderdale, FL, USA.
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