Suspected CF-looking for information

F

fallenarches

New member
My 16 year old daughter has just been referred for CF testing.  Long story shorter, she had what we thought was an abscessed tooth back in March 2011, through further discovery it was a cyst in her jaw.  During the diagnosis of the cyst the CT scan reviled that her frontal sinuses  were 90% blocked as well as one in her forehead region that I can't remember the name of.  We went to the ENT and he put her on antibiotics, decongestant and nasal spray for a month.  They did another CT this past Monday and while the nasal blockage was reduced to about 40-50% they discovered nasal polyps.  They want her tested for CF because of that.<div><br></div><div>In her early elementary years she had "asthma", as do her brothers (one is her twin, the other is 19).  She never really responded to the medications like her brothers.  Every time she got a cold, it went into her upper respiratory system, usually ending up in bronchitis and sometimes pneumonia.  Most years she would have constant bronchitis from about October into Feb or March.  At the time, we were in a small town where every dr's appointment resulted in the diagnosis of 'it's viral" so they never really did anything for her bronchitis.  She has almost constant strep throat ages 3-5 until she had her tonsils removed shortly after she turned 6.  She has not had strep since.The past few years she hasn't really gotten any colds so no real respiratory symptoms.  </div><div><br></div><div>She has frequent, loose stools.  She is average weight and height, very muscular and has no issues, that we know of, with any foods other than the loose stools.  She says she has BM's pretty much every time she goes to the bathroom.</div><div><br></div><div>She plays saxophone in the band and says that she can not do the breathing exercises that the other kids can.  </div><div><br></div><div>Family history-my mom passed away 2 years ago at age 66 from what was diagnosed as systemic scheroderma and CREST syndrome.  She had pretty major digestive issues for the last 7-8 years.  She was on Oxygen for 10+ years.  She had "arthritis" but no real joint malformation from that.  She had a constant cough before all of these other symptoms got significant-starting around age 40 for her.  In otherwords, her symptoms are very CF like.  I do not know if she was ever tested for CF and I am not sure if I can get that information or not.  Diabetes is also VERY common in our family.</div><div><br></div><div>Given this information, we are inclined to believe that there is a good chance she does have CF.  I don't know a lot about CF.  I don't really understand all the mutations everyone is talking about, etc. (well I know that they are chromosomal mutations, etc. but don't know if it makes a difference which ones you have, etc.).  What kinds of questions should we be asking.  From what I understand we should ask for the genetic test vs the sweat test.  How long does that take for results, etc.  Is there any 'immediate" test that is somewhat conclusive so we don't have to sit and worry for weeks and weeks?  Any suggestions, info, advice is greatly appreciated.</div>
 
F

fallenarches

New member
My 16 year old daughter has just been referred for CF testing. Long story shorter, she had what we thought was an abscessed tooth back in March 2011, through further discovery it was a cyst in her jaw. During the diagnosis of the cyst the CT scanreviledthat her frontal sinuses were 90% blocked as well as one in her forehead region that I can't remember the name of. We went to the ENT and he put her on antibiotics, decongestant and nasal spray for a month. They did another CT this past Monday and while the nasal blockage was reduced to about 40-50% they discovered nasal polyps. They want her tested for CF because of that.<br>In her early elementary years she had "asthma", as do her brothers (one is her twin, the other is 19). She never really responded to the medications like her brothers. Every time she got a cold, it went into her upperrespiratorysystem, usually ending up in bronchitis and sometimespneumonia. Most years she would have constant bronchitis from about October into Feb or March. At the time, we were in a small town where every dr's appointment resulted in thediagnosisof 'it's viral" so they never really did anything for her bronchitis. She has almost constant strep throat ages 3-5 until she had her tonsils removed shortly after she turned 6. She has not had strep since.The past few years she hasn't really gotten any colds so no real respiratory symptoms. <br>She has frequent, loose stools. She is average weight and height, very muscular and has no issues, that we know of, with any foods other than the loose stools. She says she has BM's pretty much every time she goes to the bathroom.<br>She plays saxophone in the band and says that she can not do the breathing exercises that the other kids can. <br>Family history-my mom passed away 2 years ago at age 66 from what was diagnosed as systemic scheroderma and CREST syndrome. She had pretty major digestive issues for the last 7-8 years. She was on Oxygen for 10+ years. She had "arthritis" but no real joint malformation from that. She had a constant cough before all of these other symptoms gotsignificant-starting around age 40 for her. In otherwords, her symptoms are very CF like. I do not know if she was ever tested for CF and I am not sure if I can get that information or not. Diabetes is also VERY common in our family.<br>Given this information, we are inclined to believe that there is a good chance she does have CF. I don't know a lot about CF. I don't really understand all the mutations everyone is talking about, etc. (well I know that they are chromosomal mutations, etc. but don't know if it makes a difference which ones you have, etc.). What kinds of questions should we be asking. From what I understand we should ask for the genetic test vs the sweat test. How long does that take for results, etc. Is there any 'immediate" test that is somewhat conclusive so we don't have to sit and worry for weeks and weeks? Any suggestions, info, advice is greatly appreciated.
 
F

fallenarches

New member
My 16 year old daughter has just been referred for CF testing. Long story shorter, she had what we thought was an abscessed tooth back in March 2011, through further discovery it was a cyst in her jaw. During the diagnosis of the cyst the CT scanreviledthat her frontal sinuses were 90% blocked as well as one in her forehead region that I can't remember the name of. We went to the ENT and he put her on antibiotics, decongestant and nasal spray for a month. They did another CT this past Monday and while the nasal blockage was reduced to about 40-50% they discovered nasal polyps. They want her tested for CF because of that.<br>In her early elementary years she had "asthma", as do her brothers (one is her twin, the other is 19). She never really responded to the medications like her brothers. Every time she got a cold, it went into her upperrespiratorysystem, usually ending up in bronchitis and sometimespneumonia. Most years she would have constant bronchitis from about October into Feb or March. At the time, we were in a small town where every dr's appointment resulted in thediagnosisof 'it's viral" so they never really did anything for her bronchitis. She has almost constant strep throat ages 3-5 until she had her tonsils removed shortly after she turned 6. She has not had strep since.The past few years she hasn't really gotten any colds so no real respiratory symptoms. <br>She has frequent, loose stools. She is average weight and height, very muscular and has no issues, that we know of, with any foods other than the loose stools. She says she has BM's pretty much every time she goes to the bathroom.<br>She plays saxophone in the band and says that she can not do the breathing exercises that the other kids can. <br>Family history-my mom passed away 2 years ago at age 66 from what was diagnosed as systemic scheroderma and CREST syndrome. She had pretty major digestive issues for the last 7-8 years. She was on Oxygen for 10+ years. She had "arthritis" but no real joint malformation from that. She had a constant cough before all of these other symptoms gotsignificant-starting around age 40 for her. In otherwords, her symptoms are very CF like. I do not know if she was ever tested for CF and I am not sure if I can get that information or not. Diabetes is also VERY common in our family.<br>Given this information, we are inclined to believe that there is a good chance she does have CF. I don't know a lot about CF. I don't really understand all the mutations everyone is talking about, etc. (well I know that they are chromosomal mutations, etc. but don't know if it makes a difference which ones you have, etc.). What kinds of questions should we be asking. From what I understand we should ask for the genetic test vs the sweat test. How long does that take for results, etc. Is there any 'immediate" test that is somewhat conclusive so we don't have to sit and worry for weeks and weeks? Any suggestions, info, advice is greatly appreciated.
 
H

hmw

New member
I'm sorry no one caught your post sooner- welcome to our forums, but sorry you needed to come here.
<br>
<br>Your daughter does have a lot going on- it is a good idea to have her worked up. I'm sorry she went through so much illness as a child that was let go without adequate treatment. Nasal polyps are a common reason for someone to be referred to a cf center, btw.
<br>
<br>As a quick primer:
<br>You want to get referred to an 'accredited cf center' for a workup for your daughter. Accredited centers are generally located at large children's hospitals. You can find one here: <a target="" title="" href="http://www.cysticfibrosis.com/cfcenters.cfm%20">http://www.cysticfibrosis.com/cfcenters.cfm </a>and ask us for input as well; families from all over the country come here and have direct experience with many centers. Depending on your insurance, you may need a referral or you may be able to call them yourself. I would ask to talk to the nurse there, and explain that the ENT wants her worked up for CF, and then tell them a bit more about her.
<br>
<br>She will need a sweat test (it's standard test to do), although it's much better at confirming cf than it is at ruling it out. A result below 40 is considered normal, 40-59 'borderline' and 60+ positive for CF. A borderline or positive result is usually repeated. As far as other tests to expect: They will do pft's (pulmonary function tests, to measure her respiratory function in comparison to other girls her age, weight and height.) She will also need a sputum culture, a chest xray, labs looking at vitamin & mineral levels (this is one way to look at her nutritional status) as well as liver function tests, etc. Stool testing will measure fecal fat & elastase to check for pancreatic insufficiency.
<br>
<br>Genetic testing is also important to do when symptoms- esp ones so pronounced as your daughter's- are present. CF is caused when a very specific protein on the 7th chromosome isn't coded properly, so this 'mutation' can be picked up via test that examines that gene. There happen to be over 1,600 different mutations, of which one called 'delta F508', or 'DF508', is the most common- the vast majority of people with CF will have at least one copy of that one. There are two kinds of genetic tests. A 'panel' test looks for up to 100ish of the mutations that represent what researchers feel will catch most of the cf population, or a more expensive sequencing test, which examines almost all of the gene and can identify the 1,600 mutations+ on the gene.
<br>
<br>As far as which one you have making a difference- sometimes yes, sometimes no. Mutations are classed by the way the mutation affects the function of the protein within the cell, but there are other factors that also affects disease progression- so the focus is more on care and slowing disease progression at this point, and working on medications to target how the mutations affect this functioning.
<br>
<br>As far as how long it takes to get results- if they order a sweat test- results are back within a day or two (sometimes even the same day if it's done in the morning.) Her ped can even order the sweat test now while you wait to get into the cf appt. At a cf clinic workup, you'll get results of pft's and sometimes, chest xray the same day. Stool and sputum cultures take about a week. Genetic testing- a panel test takes about a week, sequencing takes 4-6wks, but worth it for the highly superior test.
<br>
<br>I hope this helps... please ask any other questions you may have!!
<br>
<br>
 
H

hmw

New member
I'm sorry no one caught your post sooner- welcome to our forums, but sorry you needed to come here.
<br>
<br>Your daughter does have a lot going on- it is a good idea to have her worked up. I'm sorry she went through so much illness as a child that was let go without adequate treatment. Nasal polyps are a common reason for someone to be referred to a cf center, btw.
<br>
<br>As a quick primer:
<br>You want to get referred to an 'accredited cf center' for a workup for your daughter. Accredited centers are generally located at large children's hospitals. You can find one here: <a target="" title="" href="http://www.cysticfibrosis.com/cfcenters.cfm%20">http://www.cysticfibrosis.com/cfcenters.cfm </a>and ask us for input as well; families from all over the country come here and have direct experience with many centers. Depending on your insurance, you may need a referral or you may be able to call them yourself. I would ask to talk to the nurse there, and explain that the ENT wants her worked up for CF, and then tell them a bit more about her.
<br>
<br>She will need a sweat test (it's standard test to do), although it's much better at confirming cf than it is at ruling it out. A result below 40 is considered normal, 40-59 'borderline' and 60+ positive for CF. A borderline or positive result is usually repeated. As far as other tests to expect: They will do pft's (pulmonary function tests, to measure her respiratory function in comparison to other girls her age, weight and height.) She will also need a sputum culture, a chest xray, labs looking at vitamin & mineral levels (this is one way to look at her nutritional status) as well as liver function tests, etc. Stool testing will measure fecal fat & elastase to check for pancreatic insufficiency.
<br>
<br>Genetic testing is also important to do when symptoms- esp ones so pronounced as your daughter's- are present. CF is caused when a very specific protein on the 7th chromosome isn't coded properly, so this 'mutation' can be picked up via test that examines that gene. There happen to be over 1,600 different mutations, of which one called 'delta F508', or 'DF508', is the most common- the vast majority of people with CF will have at least one copy of that one. There are two kinds of genetic tests. A 'panel' test looks for up to 100ish of the mutations that represent what researchers feel will catch most of the cf population, or a more expensive sequencing test, which examines almost all of the gene and can identify the 1,600 mutations+ on the gene.
<br>
<br>As far as which one you have making a difference- sometimes yes, sometimes no. Mutations are classed by the way the mutation affects the function of the protein within the cell, but there are other factors that also affects disease progression- so the focus is more on care and slowing disease progression at this point, and working on medications to target how the mutations affect this functioning.
<br>
<br>As far as how long it takes to get results- if they order a sweat test- results are back within a day or two (sometimes even the same day if it's done in the morning.) Her ped can even order the sweat test now while you wait to get into the cf appt. At a cf clinic workup, you'll get results of pft's and sometimes, chest xray the same day. Stool and sputum cultures take about a week. Genetic testing- a panel test takes about a week, sequencing takes 4-6wks, but worth it for the highly superior test.
<br>
<br>I hope this helps... please ask any other questions you may have!!
<br>
<br>
 
H

hmw

New member
I'm sorry no one caught your post sooner- welcome to our forums, but sorry you needed to come here.
<br>
<br>Your daughter does have a lot going on- it is a good idea to have her worked up. I'm sorry she went through so much illness as a child that was let go without adequate treatment. Nasal polyps are a common reason for someone to be referred to a cf center, btw.
<br>
<br>As a quick primer:
<br>You want to get referred to an 'accredited cf center' for a workup for your daughter. Accredited centers are generally located at large children's hospitals. You can find one here: <a target="" title="" href="http://www.cysticfibrosis.com/cfcenters.cfm%20">http://www.cysticfibrosis.com/cfcenters.cfm </a>and ask us for input as well; families from all over the country come here and have direct experience with many centers. Depending on your insurance, you may need a referral or you may be able to call them yourself. I would ask to talk to the nurse there, and explain that the ENT wants her worked up for CF, and then tell them a bit more about her.
<br>
<br>She will need a sweat test (it's standard test to do), although it's much better at confirming cf than it is at ruling it out. A result below 40 is considered normal, 40-59 'borderline' and 60+ positive for CF. A borderline or positive result is usually repeated. As far as other tests to expect: They will do pft's (pulmonary function tests, to measure her respiratory function in comparison to other girls her age, weight and height.) She will also need a sputum culture, a chest xray, labs looking at vitamin & mineral levels (this is one way to look at her nutritional status) as well as liver function tests, etc. Stool testing will measure fecal fat & elastase to check for pancreatic insufficiency.
<br>
<br>Genetic testing is also important to do when symptoms- esp ones so pronounced as your daughter's- are present. CF is caused when a very specific protein on the 7th chromosome isn't coded properly, so this 'mutation' can be picked up via test that examines that gene. There happen to be over 1,600 different mutations, of which one called 'delta F508', or 'DF508', is the most common- the vast majority of people with CF will have at least one copy of that one. There are two kinds of genetic tests. A 'panel' test looks for up to 100ish of the mutations that represent what researchers feel will catch most of the cf population, or a more expensive sequencing test, which examines almost all of the gene and can identify the 1,600 mutations+ on the gene.
<br>
<br>As far as which one you have making a difference- sometimes yes, sometimes no. Mutations are classed by the way the mutation affects the function of the protein within the cell, but there are other factors that also affects disease progression- so the focus is more on care and slowing disease progression at this point, and working on medications to target how the mutations affect this functioning.
<br>
<br>As far as how long it takes to get results- if they order a sweat test- results are back within a day or two (sometimes even the same day if it's done in the morning.) Her ped can even order the sweat test now while you wait to get into the cf appt. At a cf clinic workup, you'll get results of pft's and sometimes, chest xray the same day. Stool and sputum cultures take about a week. Genetic testing- a panel test takes about a week, sequencing takes 4-6wks, but worth it for the highly superior test.
<br>
<br>I hope this helps... please ask any other questions you may have!!
<br>
<br>
 
F

fallenarches

New member
Thanks for the intro to CF, that helps. She has an appointment at the University of MN CF center on October 25th. We saw her primary dr this past Friday and she took blood and urine to test for "other" things as well. They are not set up to do the CF testing, probably because the CF clinic is in their "network". Luckily we don't need referrals with our insurance, makes things easier for sure. Her PCP was pretty skeptical about even having the CF testing because DD is not underweight...but she admits she isn't an expert on this either.

On the 25th she has a sweat test scheduled in the morning and a consult with the dr's in the afternoon. I am assuming they will have some numbers for us at that meeting??

I should mention, I HATE waiting for stuff <img src="i/expressions/face-icon-small-smile.gif" border="0">. Waiting for test results, waiting for appointments, etc. DD is not happy having to talk to people about poop <img src="i/expressions/face-icon-small-smile.gif" border="0">.
 
F

fallenarches

New member
Thanks for the intro to CF, that helps. She has an appointment at the University of MN CF center on October 25th. We saw her primary dr this past Friday and she took blood and urine to test for "other" things as well. They are not set up to do the CF testing, probably because the CF clinic is in their "network". Luckily we don't need referrals with our insurance, makes things easier for sure. Her PCP was pretty skeptical about even having the CF testing because DD is not underweight...but she admits she isn't an expert on this either.

On the 25th she has a sweat test scheduled in the morning and a consult with the dr's in the afternoon. I am assuming they will have some numbers for us at that meeting??

I should mention, I HATE waiting for stuff <img src="i/expressions/face-icon-small-smile.gif" border="0">. Waiting for test results, waiting for appointments, etc. DD is not happy having to talk to people about poop <img src="i/expressions/face-icon-small-smile.gif" border="0">.
 
F

fallenarches

New member
Thanks for the intro to CF, that helps. She has an appointment at the University of MN CF center on October 25th. We saw her primary dr this past Friday and she took blood and urine to test for "other" things as well. They are not set up to do the CF testing, probably because the CF clinic is in their "network". Luckily we don't need referrals with our insurance, makes things easier for sure. Her PCP was pretty skeptical about even having the CF testing because DD is not underweight...but she admits she isn't an expert on this either.
<br />
<br />On the 25th she has a sweat test scheduled in the morning and a consult with the dr's in the afternoon. I am assuming they will have some numbers for us at that meeting??
<br />
<br />I should mention, I HATE waiting for stuff <img src="i/expressions/face-icon-small-smile.gif" border="0">. Waiting for test results, waiting for appointments, etc. DD is not happy having to talk to people about poop <img src="i/expressions/face-icon-small-smile.gif" border="0">.
 
P

Printer

Active member
Hi Fallen:

Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.

Good luck,
Bill
 
P

Printer

Active member
Hi Fallen:

Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.

Good luck,
Bill
 
P

Printer

Active member
Hi Fallen:
<br />
<br />Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.
<br />
<br />Good luck,
<br />Bill
 
F

fallenarches

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i>

Hi Fallen:



Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.



Good luck,

Bill</end quote></div>

<div><br></div><div>Thanks for the suggestion Bill.  I do have to tell you that you made my daughter feel MUCH better about this situation when she saw age 71 listed in your signature. Thank you for that!!</div>
 
F

fallenarches

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i>

Hi Fallen:



Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.



Good luck,

Bill</end quote>

<br>Thanks for the suggestion Bill. I do have to tell you that you made my daughter feel MUCH better about this situation when she saw age 71 listed in your signature. Thank you for that!!
 
F

fallenarches

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i>

Hi Fallen:



Harriett has given you excellent information. The only thing that I would add is to ask for a Full CF Gene Sequencing. There are almost 1900 mutations, this test will scan for almost all of them.



Good luck,

Bill</end quote>

<br>Thanks for the suggestion Bill. I do have to tell you that you made my daughter feel MUCH better about this situation when she saw age 71 listed in your signature. Thank you for that!!
 
H

hmw

New member
I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!

You will be in AMAZING hands going to U of Minnesota. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
I believe Bill's second mutation is one that would only have been found with that full sequencing and there are many others like that here. He is correct in that this testing is far superior! The one to ask for is "Ambry Amplified for CF w/deletions and duplications." They were the first and are the most comprehensive!

You will be in AMAZING hands going to U of Minnesota. They are renowned worldwide for their CF care and if anything is going to give your dd the best odds of living a long, healthy life should it turn out she has CF, it is getting care at a center like that!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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