Ok, out with the old and in with the new. All of the previous posts were ones that I wanted to keep, that were backlogged from my old blog that I backed up.
Reading back on these I realized how valuable I find it to track my health via a blog. At one point I had an excel sheet with all my PFT's in it, that file was lost a long time ago but I might start another one for tracking purposes. If I get in to tiger-2 then I will have alot numbers to manage!
After all that work I dont have much to say (rarity) but stay tuned.........
I am wokring on a year end review and a 2009 FYI plan similar to my 2007 work.
Monday, December 29, 2008
P67L
Nothing exciting here. I am making a folder to keep all my info on my mutations and work we are doing.
Journal of Medical Genetics, 1998, Vol 35, 122-125 --------------------------------------------------------------------
ARTICLES P67L:
a cystic fibrosis allele with mild effects found at high frequency in the Scottish population A Gilfillan, JP Warner, JM Kirk, T Marshall, A Greening, LP Ho, T Hargreave, B Stack, D McIntyre, R Davidson, JC Dean, W Middleton and DJ Brock Human Genetics Unit, University of Edinburgh, Western General Hospital, UK. Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride concentrations, the average value being 57 +/- 9 mmol/l; 77% of the patients were pancreatic sufficient. When compared to three other established mild CF alleles, R117H, A455E, and 3849 + 10kb C-T, a compound heterozygote for P67L has minimal disease and clinical suspicions are unlikely to be confirmed other than by DNA typing.
Journal of Medical Genetics, 1998, Vol 35, 122-125 --------------------------------------------------------------------
ARTICLES P67L:
a cystic fibrosis allele with mild effects found at high frequency in the Scottish population A Gilfillan, JP Warner, JM Kirk, T Marshall, A Greening, LP Ho, T Hargreave, B Stack, D McIntyre, R Davidson, JC Dean, W Middleton and DJ Brock Human Genetics Unit, University of Edinburgh, Western General Hospital, UK. Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride concentrations, the average value being 57 +/- 9 mmol/l; 77% of the patients were pancreatic sufficient. When compared to three other established mild CF alleles, R117H, A455E, and 3849 + 10kb C-T, a compound heterozygote for P67L has minimal disease and clinical suspicions are unlikely to be confirmed other than by DNA typing.
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
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
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.
Ambry Genetics Info
Blogging this because I have posted it a # of times, this time I typed it all up so I can reference anyone back to it later. I have experienced this both in getting the test for myself, my siblings (in progress), and this year for my daughter which was a nightmare and how I learned all of this. If you have any questions please feel free to PM me.
The ambry website is: http://www.ambrygen.com/ The toll free number is 1-866-262-7943 (they are very helpful) You can download an 'insurance pre-verification request form'. Fill out your portion and fax back to them. They will contact your insurance to find out if it is covered and call/fax you back with the information, generally within 4 hours.
The ambry CF Amplified panel is, to my knowledge, the only one able to test for every mutation, do not settle for the others because if your child is 'borderline' they may have a rarer mutation that the basic panel will not pick up. The cost of the CF Amplified for insurance is $3,100 however, if they were to deny your claim you can work out a payment plan with Ambry for $1,300 total cost.
In addition I just recently found out (this was confirmed by Steve from Ambry genetics) that they can do a check for any specific mutation for $125. This would really only be useful in the event of siblings where one was previously diagnosed, since assuming they have the same parents you would know the two possibilities.
Additional Loophole: Your plan may say it is denied due to being out of network. I found a loophole to this for my insurance. As long as I had it drawn at an in network hospital that couldn't run the test (of course no one else can run it) and they had to send it out then it would be covered. The trick is you have to have proof that it was drawn in network and sent out of network because that is the only option and most hospitals if doing a draw for something they cant run will just do a 'courtesy draw' meaning they don't bill you. I had to find a hospital willing to bill for the draw and tell them I would gladly pay for the draw should it be denied (since it is not something normally billed to insurance) the cost was only $17. My regular large hospital was not willing to bill for a draw they said they could not since it is always a 'courtesy' so I called smaller hospitals until I found one willing to work with me.
Many pediatricians are just ignorant when it comes to borderline sweat tests. Anything in the borderline area should be followed by a genetic test (in my opinion and most doctors are starting to realize this slowly but surely). Under 40 is considered negative, 40-60 is borderline, and over 60 is positive for CF. I have had 6 test results over the course of my life before being diagnosed ranging from 36-56. If it were my child I would insist on a genetic test. Many times since they don't full understand the potential for 'borderline' individuals to have CF or for older or adult diagnosis they will tell you it is unnecessary. The pediatrician that I forced into ordering my daughter's test later when questioned by the insurance folded and said it was not needed because she 'wasn't showing signs' of the disease, I did not show signs for a long time so I had to educate her. This same thing happened with my sibling's doctor who proceeded to inform my mother there was no such thing as adult diagnosis.
The ambry website is: http://www.ambrygen.com/ The toll free number is 1-866-262-7943 (they are very helpful) You can download an 'insurance pre-verification request form'. Fill out your portion and fax back to them. They will contact your insurance to find out if it is covered and call/fax you back with the information, generally within 4 hours.
The ambry CF Amplified panel is, to my knowledge, the only one able to test for every mutation, do not settle for the others because if your child is 'borderline' they may have a rarer mutation that the basic panel will not pick up. The cost of the CF Amplified for insurance is $3,100 however, if they were to deny your claim you can work out a payment plan with Ambry for $1,300 total cost.
In addition I just recently found out (this was confirmed by Steve from Ambry genetics) that they can do a check for any specific mutation for $125. This would really only be useful in the event of siblings where one was previously diagnosed, since assuming they have the same parents you would know the two possibilities.
Additional Loophole: Your plan may say it is denied due to being out of network. I found a loophole to this for my insurance. As long as I had it drawn at an in network hospital that couldn't run the test (of course no one else can run it) and they had to send it out then it would be covered. The trick is you have to have proof that it was drawn in network and sent out of network because that is the only option and most hospitals if doing a draw for something they cant run will just do a 'courtesy draw' meaning they don't bill you. I had to find a hospital willing to bill for the draw and tell them I would gladly pay for the draw should it be denied (since it is not something normally billed to insurance) the cost was only $17. My regular large hospital was not willing to bill for a draw they said they could not since it is always a 'courtesy' so I called smaller hospitals until I found one willing to work with me.
Many pediatricians are just ignorant when it comes to borderline sweat tests. Anything in the borderline area should be followed by a genetic test (in my opinion and most doctors are starting to realize this slowly but surely). Under 40 is considered negative, 40-60 is borderline, and over 60 is positive for CF. I have had 6 test results over the course of my life before being diagnosed ranging from 36-56. If it were my child I would insist on a genetic test. Many times since they don't full understand the potential for 'borderline' individuals to have CF or for older or adult diagnosis they will tell you it is unnecessary. The pediatrician that I forced into ordering my daughter's test later when questioned by the insurance folded and said it was not needed because she 'wasn't showing signs' of the disease, I did not show signs for a long time so I had to educate her. This same thing happened with my sibling's doctor who proceeded to inform my mother there was no such thing as adult diagnosis.
Germ Guardian Temperature Mapping
This is an evaluation of the temperatures that the germ guardian reaches. Note this is unofficial in every way, this was done on my own germ guardian (~6mo old)using my own nebs and was only done once. While I tried to throw in some variables and consider worst case scenarios it is in no way a robust measure of all conditions. I am in no way advocating not following approved CFF cleanign methods; this is an FYI ONLY!
I do not have the information for the temperature and duration of time that is needed to kill of most bacteria, especially those in question like B.Cepacia, MRSA, Pseudomonas. I Believe I have it soemwhere but if someone could post that it would be helpful, otherwise I can look it up perhaps later.
Wet Dry T1 T2 T1 T2
60 sec 139.9 145.0 115.2 122.8
5 min 166.7 174.5 164.5 172.5
10 min 170.3 178.1 171.3 179.5
15 min 172.0 180.1 171.8 179.9
20 min** 172.8 181.3 172.6 180.6
25 min 127.0 129.5 136.6 139.5
30 min 99.3 99.9 100.0 100.1
Notes: All readings were performed using a calibrated temperature mapping thermometer, accurate within +/- 0.1 deg, it has wire temperature probes so that I could fit them in through the holes in the top and adjust them to their desired locations. All readings were performed with the germ guardian loading basket containing the parts for three sprint neb cups. (since this is a pretty full load it simulates worst case compared to jsut throwing one cup in there--although I can jam 4 in there if I try) All readings are denoted in degrees Fahrenheit.
**You will notice the large drop in temperature between 20-25 minutes. On the second dry cycle I noted at what point this happened and it was at precisely 22minutes30seconds. Wet-denotes nebs put in after only shaking off excess water
Note: done as a comparison for worst case scenario, I know I many times throw them in there still damp. Dry-denotes the nebs were completely dry, this was the second run I did but I waited for the guardian and cups to return to room temperature.
Note: guardian is only intended to be used with dry items.
T1-This temperature probe was placed at the outer edge of the very bottom level. Meaning the lowest your nebs would be sitting at. It was not touching the grate below (metal) where heat source is, only as low as a neb would actually be (the bottom of the blue plastic) and towards the outer edge of the vessel since this temperature could be lower than a temperature monitored in the direct center of the loading basket.
T2-this probe was placed just inside the top of the loading basket (2.5cm) down and towards the center of one of the slits where air escapes.
I do not have the information for the temperature and duration of time that is needed to kill of most bacteria, especially those in question like B.Cepacia, MRSA, Pseudomonas. I Believe I have it soemwhere but if someone could post that it would be helpful, otherwise I can look it up perhaps later.
Wet Dry T1 T2 T1 T2
60 sec 139.9 145.0 115.2 122.8
5 min 166.7 174.5 164.5 172.5
10 min 170.3 178.1 171.3 179.5
15 min 172.0 180.1 171.8 179.9
20 min** 172.8 181.3 172.6 180.6
25 min 127.0 129.5 136.6 139.5
30 min 99.3 99.9 100.0 100.1
Notes: All readings were performed using a calibrated temperature mapping thermometer, accurate within +/- 0.1 deg, it has wire temperature probes so that I could fit them in through the holes in the top and adjust them to their desired locations. All readings were performed with the germ guardian loading basket containing the parts for three sprint neb cups. (since this is a pretty full load it simulates worst case compared to jsut throwing one cup in there--although I can jam 4 in there if I try) All readings are denoted in degrees Fahrenheit.
**You will notice the large drop in temperature between 20-25 minutes. On the second dry cycle I noted at what point this happened and it was at precisely 22minutes30seconds. Wet-denotes nebs put in after only shaking off excess water
Note: done as a comparison for worst case scenario, I know I many times throw them in there still damp. Dry-denotes the nebs were completely dry, this was the second run I did but I waited for the guardian and cups to return to room temperature.
Note: guardian is only intended to be used with dry items.
T1-This temperature probe was placed at the outer edge of the very bottom level. Meaning the lowest your nebs would be sitting at. It was not touching the grate below (metal) where heat source is, only as low as a neb would actually be (the bottom of the blue plastic) and towards the outer edge of the vessel since this temperature could be lower than a temperature monitored in the direct center of the loading basket.
T2-this probe was placed just inside the top of the loading basket (2.5cm) down and towards the center of one of the slits where air escapes.
PFT+running=awesome
Well I went in to an appt today on a non-cf'er day because I have had a horrid little respiratory thing going on since monday. I felt that it was mostly still viral as I do not have increased sputum much and what I do have is still thin and light yellow/green (my norm), I am coughing alot but its a 'sick' cough not a cf cough, and my peak flow is down almost 10%, so it is taking its toll (I took vacation day tomorrow) anyway if it was getting out of control I wanted to nip it in the bud before I was full out sick. I called CF nurse to see what she thought and knowing what is going around right now she said come on in, better safe than sorry.
About 2 months ago I started running 3 days a week and I have been feeling really well lung wise and think its much to the runnings credit. I get out hard things that are like little green pieces string that I can tell have been stuck somewhere for goodness knows how long. Anyway long story short with my peak flow down 50pts from where I have been blowing I got the following PFT report today (yeah *does a happy dance*). I couldn't be more thrilled all my numbers were way up from my most recent appt in december AND up from Jun 2007 (see below) which was when#1 I broke my personal best AND I got off IV's!!!! Yeah. I have NEVER EVER EVER been able to duplicate post IV PFT numbers, ever!
The other really great part was even though my 'best' blow was the one below and the one they recorded I did blow another one that showed my small airways 25-75% at 104.7% of predicted so I am not counting that but I see there is still possibility to improve and get it there for real! This is 8 months out (post IV's) and did I mention february is my worst month? Part of the reason this cold scared me so badly is that I ALWAYS get sick in feb, last year was the first one since dx I did not land in the hospital with hemoptysis. S
o even though my knee is giving me alot of trouble lately and I was doubting if I should push forward with tryign for a 10K I figure to heck with my knee, I will take my lungs over the knee any day! I had decided that before but seeing these sorts of results really reinforces that decision. I told my nurse I really would like to see what my numbers are healthy because if my peak flow is down that much I must be higher than this reading today.
21Feb2008: FVC 105.3 FEV1 99.3 FEV25-75% 89.1 BP 114/68 HR 59 Wt 152
25Jun2007: FVC 105 FEV1 97 FEV25-75% 82
4Dec2007: FVC 99 FEV1 91 FEV25-75% 77
so yes, sorry if you made it to the end of this, it is all about me, I am journaling this to keep track of my PFT's for future reference. ta ta and rememebr you dont have to run, its whatever is challenging to YOU!
About 2 months ago I started running 3 days a week and I have been feeling really well lung wise and think its much to the runnings credit. I get out hard things that are like little green pieces string that I can tell have been stuck somewhere for goodness knows how long. Anyway long story short with my peak flow down 50pts from where I have been blowing I got the following PFT report today (yeah *does a happy dance*). I couldn't be more thrilled all my numbers were way up from my most recent appt in december AND up from Jun 2007 (see below) which was when#1 I broke my personal best AND I got off IV's!!!! Yeah. I have NEVER EVER EVER been able to duplicate post IV PFT numbers, ever!
The other really great part was even though my 'best' blow was the one below and the one they recorded I did blow another one that showed my small airways 25-75% at 104.7% of predicted so I am not counting that but I see there is still possibility to improve and get it there for real! This is 8 months out (post IV's) and did I mention february is my worst month? Part of the reason this cold scared me so badly is that I ALWAYS get sick in feb, last year was the first one since dx I did not land in the hospital with hemoptysis. S
o even though my knee is giving me alot of trouble lately and I was doubting if I should push forward with tryign for a 10K I figure to heck with my knee, I will take my lungs over the knee any day! I had decided that before but seeing these sorts of results really reinforces that decision. I told my nurse I really would like to see what my numbers are healthy because if my peak flow is down that much I must be higher than this reading today.
21Feb2008: FVC 105.3 FEV1 99.3 FEV25-75% 89.1 BP 114/68 HR 59 Wt 152
25Jun2007: FVC 105 FEV1 97 FEV25-75% 82
4Dec2007: FVC 99 FEV1 91 FEV25-75% 77
so yes, sorry if you made it to the end of this, it is all about me, I am journaling this to keep track of my PFT's for future reference. ta ta and rememebr you dont have to run, its whatever is challenging to YOU!
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