Okay this is the first time ive ever done something like this but Im scared and need someone to talk to. I feel really alone right now. My daughter is 5 and we just found out that she is a probable CF patient. We did the DNA test and they found some mutations but not the actual one......we were told that we would probably find it later. I have a lot of questions and would appreciate anyones input on this....just someone to talk to would be great you can contact me @just_plain_kraze@yahoo.com.....Thank you so much.
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Just found out
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kristisMom
New member
Im not exactly sure at this point still waiting for alot of my questions to be answered......they said they didnt find the actual cf mutation but they found minor mutations that usually go along with CF. and we have a very high sweat test # 70.......The doctor told us that as the DNA test improves that she feels that we will find it......I just need to find out as much info as possible.....right now I feel really alone in this.....I had never heard of it until now.
Emily65Roses
New member
Most people who aren't affected by it haven't ever heard of it. Either way, your comment about the actual mutation or whatever makes no sense to me. So until you get that part cleared up, there's nothing I can really say to help. If you get clearer information and understanding from your doctors, come back and try again. <img src="i/expressions/rose.gif" border="0">
Hi Cassandra,
Like Emily said, most people don't know much about CF until it confronts them. A score of 70 on the sweat test is positive for CF. Below 40 is considered negative, 40-60 borderline, and 60+ positive. You need two genetic mutations to have CF. Perhaps you should ask if they have only found one, and can't identify the second. A few questions I have:
Are you going to an accredited CF center? This is important because they have trained staff and doctors. If you are not at one, ask if you can be referred to the closest CF center. Also, did your daughter get her sweat test done at an accredited center?
Where did they send your daughter's bloodwork? Ambrey Genetics will test for the 1000+ mutations. Other labs only test for the most common mutations. Try to find out where they sent it. You should also have received some paperwork identifying what they did find.
Don't be afraid to ask A LOT of questions at clinic. But also, do your homework and try to read as much as possible about CF. It is a complicated disease that effects everyone differently. Good Luck!
Maria (mother of three daughters, the youngest, Samantha w/CF)
Like Emily said, most people don't know much about CF until it confronts them. A score of 70 on the sweat test is positive for CF. Below 40 is considered negative, 40-60 borderline, and 60+ positive. You need two genetic mutations to have CF. Perhaps you should ask if they have only found one, and can't identify the second. A few questions I have:
Are you going to an accredited CF center? This is important because they have trained staff and doctors. If you are not at one, ask if you can be referred to the closest CF center. Also, did your daughter get her sweat test done at an accredited center?
Where did they send your daughter's bloodwork? Ambrey Genetics will test for the 1000+ mutations. Other labs only test for the most common mutations. Try to find out where they sent it. You should also have received some paperwork identifying what they did find.
Don't be afraid to ask A LOT of questions at clinic. But also, do your homework and try to read as much as possible about CF. It is a complicated disease that effects everyone differently. Good Luck!
Maria (mother of three daughters, the youngest, Samantha w/CF)
Okay maybe I should be a little more clear on this.......our sweat test was hight and when they did the DNA test (it tested for like 80) they found one major mutation and not the other.....but alot of other minor mutations that they usually see in CF patients.......The doctor has told me that they expect to find the other later on down the line of testing......She shows many many of the signs.......phemonia 6 times hospitilized.......shes 5 and weighs 21 lbs.......she isnt eating for me right now because she says it makes her stomache hurt.......she got a terrible cough.....and we are on tons of meds just not enzymes.....Im just needing to know what I should do and how we explain this to her......They dont seem to be that concerned......Im wondering if we should change dr's and I have noone to talk to about this......Im going nuts.....
Emily65Roses
New member
In CF the child has only two CF mutations. One from the mother, one from the father. So the mention of several mutations makes me wonder if your doctors know what they're doing. Not to mention it strikes me odd that they're discussing CF and don't seem too concerned. Either this means they think it's a possibility, but not likely... or they're being dumb. Hah. CF isn't the end of the world, don't get me wrong. But it's a serious matter that deserves good information and careful consideration.
Maria is right, if you're not at a CF center, you need to switch. Sweat tests not done at CF centers are often done improperly or the results are misread. You need to have a sweat test done at a CF center in order to get accurate results.
Maria is right, if you're not at a CF center, you need to switch. Sweat tests not done at CF centers are often done improperly or the results are misread. You need to have a sweat test done at a CF center in order to get accurate results.
Cassandra,
I'm now going to chime in and say the same things. Go to a certified CF center for everything....testing and care. There should be two mutations. One from mom and one from dad....that's how the child gets the CF. Maria's numbers on sweat testing are perfect. 70 is in the positive range, but if you are questioning it, have it redone at a CF center.
The other things you are describing can be CF symptoms...failure to thrive, pneumonia, the cough, the tummy aches, etc.
Does she taste salty if you kiss her forehead? That is an old test but a fairly definitive one.
Keep asking questions and let us know what's happening! Hang in there!<img src="i/expressions/face-icon-small-smile.gif" border="0">
I'm now going to chime in and say the same things. Go to a certified CF center for everything....testing and care. There should be two mutations. One from mom and one from dad....that's how the child gets the CF. Maria's numbers on sweat testing are perfect. 70 is in the positive range, but if you are questioning it, have it redone at a CF center.
The other things you are describing can be CF symptoms...failure to thrive, pneumonia, the cough, the tummy aches, etc.
Does she taste salty if you kiss her forehead? That is an old test but a fairly definitive one.
Keep asking questions and let us know what's happening! Hang in there!<img src="i/expressions/face-icon-small-smile.gif" border="0">
I can vouch for everything Emily said, as I was misdiagnost at age 12 yrs old by a non CF hosp. and when I did find out at 30 that I actually had CF, I was not treated with CF meds for over a year by a well known pulmonolist in Flint or my MD. They were treating me with asthma drugs instead of anything that would help releive symptoms of CF. So Please demand a CF center. They are the ones that speicalize in this disease. A normal MD doesn't know only book material that is usually dated on CF. You want the best treatment the most advanced treatment for you and your family. Eva
Cassandra, I'm guessing they found alleles like 5T, 7T, 9T. Does that ring a bell?? These alleles are generally found with a CF mutation. The alleles, in and of themselves do NOT cause cf but if they found TWO alleles with one CF mutation, that's suggestive that there is another mutation because generally you have no more than one allele from each parent (in addition to the actual cf mutation). It sounds to me like they used the Genzyme test to identify mutations. In white, anglo-saxons it will identify both mutations about 90% of the time. The other 10% have rare mutations that either have not been found or can only be picked up on Ambry's genetic test which screens the entire DNA sequence and can pick up ALL genes (the problem is that some have not yet been identified as CF mutations because they are so rare and have not been seen in enough cf individuals to be recognized as a gene. I know that's all very confusing. Your cf doctor can probably give you a better explanation since he/she is more accustomed to explaining than I am.
Regardless of when/if they find the 2nd gene, your dd's sweat test was positive which is conclusive for CF. Like everyone else mentioned, if your dd is not being seen by an accredited CF specialist at a CF center, please request that she be referred ASAP. If you're not sure if it's accredited, you can check out the CFF Org, and/or post which hospital she is at HERE in the hopes that someone will recognize it. As far as her care, have they started her on enzymes now? Is she receiving some form of chest physical therapy? (aka "clapping", "percussion", "the vest", etc??) If not, I'd definitely request that those be started immediately. If you have any other specific questions, please be sure to post. Welcome!!
Regardless of when/if they find the 2nd gene, your dd's sweat test was positive which is conclusive for CF. Like everyone else mentioned, if your dd is not being seen by an accredited CF specialist at a CF center, please request that she be referred ASAP. If you're not sure if it's accredited, you can check out the CFF Org, and/or post which hospital she is at HERE in the hopes that someone will recognize it. As far as her care, have they started her on enzymes now? Is she receiving some form of chest physical therapy? (aka "clapping", "percussion", "the vest", etc??) If not, I'd definitely request that those be started immediately. If you have any other specific questions, please be sure to post. Welcome!!
I would imagine that Cassandra is overwhelmed and a little confused right now and just not sure what's going on with her daughter. That may be why some of us are getting confused. She may not be expressing what her doctors told her in the right way, but it doesn't change the fact that she has just gotten a major blow.
OK - Your daughter has CF symptoms AND tested positive for CF with a sweat test. This test was probably accurate - so you daughter has CF. Finding out what exactly that 2nd mutation is does not make a difference right now, and the time has come to get your daughter on the road to treatments. You should not be seeing your regular pediatrician for this, and hopefully your pediatrician has referred to a qualified Pulmonologist in a CF clinic. Our regular pediatrician called us with the news of our son's CF on a Friday, and Monday we were in the Pulmonologists office. The Pulmonologist will run all sorts of tests and get your daughter started on a program. If you have any doubt in the accuracy of the first CF test, you can discuss it with your Pulmonologist and see what further testing needs to be done.
When you go to the first appointment (with the Pulmonologist), bring a piece of paper to take notes. Also, bring in a list of questions (do this for every visit). That first appointment was very overwhelming and depressing for us. There were so many changes we had to make and I didn't know how I was going to keep up. Surprisingly, we got into a routine rather quickly, and it was amazing how well our son adapted (he was 3 at the time). Just take it 1 step at a time.
Your daughter will probably need to be on enzymes (to help with her digestive problems) - our Pulmonologist prescribed them the minute he was diagnosed before even seeing him.
The next major issue is the respiratory therapy - breathing in medication through a nebulizer followed by Chest Physical Therapy (CPT). The CPT can be done in a number of ways: clapping or The Vest are quite common methods. When my son was first diagnosed, they had them do this 4 times a day (did I mention being overwhelmed?). But we now do this 3 times a day.
When you do research, stay with current information because a lot of progress has been made in CF research. Try www.cff.org This website also has a section for CF information.
BEST OF ALL: Now that your daughter has been diagnosed she will start feeling so much better. My son gained 5 pounds in 1 month (and grew an inch). As devastated as you feel right now, please know that your daughter is better off now that you know.
Please write with any more questions.
Jena
mom to 4 year old with CF
OK - Your daughter has CF symptoms AND tested positive for CF with a sweat test. This test was probably accurate - so you daughter has CF. Finding out what exactly that 2nd mutation is does not make a difference right now, and the time has come to get your daughter on the road to treatments. You should not be seeing your regular pediatrician for this, and hopefully your pediatrician has referred to a qualified Pulmonologist in a CF clinic. Our regular pediatrician called us with the news of our son's CF on a Friday, and Monday we were in the Pulmonologists office. The Pulmonologist will run all sorts of tests and get your daughter started on a program. If you have any doubt in the accuracy of the first CF test, you can discuss it with your Pulmonologist and see what further testing needs to be done.
When you go to the first appointment (with the Pulmonologist), bring a piece of paper to take notes. Also, bring in a list of questions (do this for every visit). That first appointment was very overwhelming and depressing for us. There were so many changes we had to make and I didn't know how I was going to keep up. Surprisingly, we got into a routine rather quickly, and it was amazing how well our son adapted (he was 3 at the time). Just take it 1 step at a time.
Your daughter will probably need to be on enzymes (to help with her digestive problems) - our Pulmonologist prescribed them the minute he was diagnosed before even seeing him.
The next major issue is the respiratory therapy - breathing in medication through a nebulizer followed by Chest Physical Therapy (CPT). The CPT can be done in a number of ways: clapping or The Vest are quite common methods. When my son was first diagnosed, they had them do this 4 times a day (did I mention being overwhelmed?). But we now do this 3 times a day.
When you do research, stay with current information because a lot of progress has been made in CF research. Try www.cff.org This website also has a section for CF information.
BEST OF ALL: Now that your daughter has been diagnosed she will start feeling so much better. My son gained 5 pounds in 1 month (and grew an inch). As devastated as you feel right now, please know that your daughter is better off now that you know.
Please write with any more questions.
Jena
mom to 4 year old with CF
cassandra i added you to my yahoo buddy list.. ill be online tonight if you'd like to talk.. ill answer as much as i can... on the salty note... my son use to taste salty when i kissed him but not so much lately but id have to say that all the other symptoms you posted sound like cf.. but find a accredited cf clinic and make a appt even if you have to go over the pediatritians head...