There is a huge difference between telling them to do nothing and that they won't get sick and informing them that nearly every other person who had that mutation was symptomless or had no more symptoms than a carrier (which are usually sinus issues (all of life) and pancreatic issues that usually occur late in life.) And of course, you should also inform them of the fact that obviously things could go differently for them than it has for others in previous cases (ie things could be much worse). In the case of f508c, the mutation is usually discovered in symptomless people by accident and nearly every case reported (even in combination with more severe mutations such delf508) have been asymptomatic. Not even every person with 2 CFTR mutations is diagnosed with CF. There is a test, the nasal potential difference test, which can quantify the amount of functional CFTR protien present in an individual. People with benign or mild mutations can have this test done and if it shows that they have enough functional CFTR they will get a diagnosis of pre-CF and be watched very carefully for any symptoms that could be troublesome.
What i am trying to say is that in order for someone to make an informed desicion about their health and how to deal with it they need both the "doom and gloom" as well as the "positive". I believe withholding either of this information patronizingly assumes that people shouldn't or are not capable of making descions about their own body. I believe people are perfectly capable of assesing the risks and benefits of making a choice but in order to do that they need ALL the information. It simply is not fair to withhold it (regardless of whether it is doom and gloom or not)
CF is a disease that is treated by preventative measures. I absolutely believe that people should be informed of this and be informed that their disease could be very severe so that they can consider carefully how to choose treatment options. In the cases where their are clear genotype-phenotype correlations (which is very uncommon but is the case for some mutations such f508c) I think people should be informed even if it does not mean that the correlation will necessarily apply to them.
Even among people who are all assuming the worst about their disease, people make very different choices about medical care and treatments. Why shouldn't someone who may never develop symptoms of CF allow this fact to effect the decisions they make about their health?? Personally if i thought it was likely that my daughter would have a very mild case of CF or no symptoms at all, I would choose not to give her medications that would put her kidneys at risk. Even knowing that she is going to have a very typical case of CF, i still question giving her 1g of ibprofen daily. I wonder if i could give her less and spare her kidneys some damage. In a situation where my daughter had mutations correlated with mild disease or no disease, I might also act differently about the use of prophylactic antibiotics. I might consider the risk of my daughter having a virus develop into a more serious infection less than the risk of giving antibiotics (without any known bacterial infection) and her possibly developing some antibiotic resistant bug as a result (or c-diff as a result of antibiotics).
Now i am going to try to share some of knowledge of molecular biology with you all so that you may have an understanding for how some mutations may have no effect on protein function (I am currently working on a phd in molecular bio. working on thesis now) while others could destroy it. DNA codes for a protein by specifying a string of amino acids. Once this string of amino acids is built it usually folds up, based on the interactions of the amino acids that make up the protien, into a functional, 3-D, structure. The amino acids themselves have certain chemical properties that allow them to interact with one another or not interact with one another. The main things we are interested in are the water-loving and water hating properties of amino acids. Sometimes a mutation may occur in the DNA that converts a water hating amino acid to another water hating amino acid. In this case the protein may have no problem folding into its functional shape and may work fine. In other cases an amino acid may be converted from a water loving amino acid to a water hating amino acid. In this case the protien may fail to fold normally and no longer be functional. In the case of del f508, the deltion causes water hating amino acids to occur on the protien in such a way that the cell considers it to be dangerous (the protien could form aggregates and kill the cell.) The protein would work fine if it made it to the membrane but the cell destroys it so it never gets there. (High doses of Tumeric is thought to maybe allow some of the protien to make it to the cell's surface.)
I don't even consider this about being "positive" or "negative." I consider it more about respecting people's ability to make their own choices when armed with the power of information. I've just felt a lot of posts about mutations and severity tend to inspire fear in people rather than give them information they need to make rational and informed choices. I know it takes alot of work to do that which is why i don't post as much as other people. I usually spend a substantial amount of time researching my posts, reading abstracts from peer reviewed journals and sometimes even reading the article. I also try not to present the information in absolute terms since i am not a doctor and don't have as much time to research these issues as a professional would. I try admit that i am fallible which may tend to cause people to disregard the info in my posts. Anyway sometimes i feel frustrated cause i go to all this effort to be accurate and provide valuable information and then everyone ignores my posts or replies with two senetences about the variablity in disease presentation that is designed to discredit everything i have researched and posted.
