Joel's Doctor called with news confused with questions

rbecerra · Oct 11, 2008

We had a borderline sweat test and have been waiting 3 weeks for the dna test results for Joel our son. He is 9 years old has always had allergy problems and last winter ended up in childrens hospital with a staph infection that had turned toxic. Ever since then he has been under the care of an allergist and an ENT, since day 1 the allergist was concerned about CF. We were not apert from the chronic sinusitis Joel is a very athletic kid with no breathing problems he just ran a 65 yd touchdown last Sunday.

Yesterday the allergist called and said that the dna was back that it was alot of information but that it definitley showed he is a CF carrier he had consulted with his CF Colleagues and made an appt for Joel with a Peds Pulmonoligist this Thurs. He said she would more than likely start clinical testing.

What does all this mean?

Does he have CF? Should my husband and i be tested to see if we both carrier cf?

What is clinical testing?

I guess we are extremly emotional right now with a roller coaster of emotions...anybody who could explain in laymans terms would be appreciated. Thank You Rachel

rbecerra · Oct 11, 2008

We had a borderline sweat test and have been waiting 3 weeks for the dna test results for Joel our son. He is 9 years old has always had allergy problems and last winter ended up in childrens hospital with a staph infection that had turned toxic. Ever since then he has been under the care of an allergist and an ENT, since day 1 the allergist was concerned about CF. We were not apert from the chronic sinusitis Joel is a very athletic kid with no breathing problems he just ran a 65 yd touchdown last Sunday.

Yesterday the allergist called and said that the dna was back that it was alot of information but that it definitley showed he is a CF carrier he had consulted with his CF Colleagues and made an appt for Joel with a Peds Pulmonoligist this Thurs. He said she would more than likely start clinical testing.

What does all this mean?

Does he have CF? Should my husband and i be tested to see if we both carrier cf?

What is clinical testing?

I guess we are extremly emotional right now with a roller coaster of emotions...anybody who could explain in laymans terms would be appreciated. Thank You Rachel

rbecerra · Oct 11, 2008

We had a borderline sweat test and have been waiting 3 weeks for the dna test results for Joel our son. He is 9 years old has always had allergy problems and last winter ended up in childrens hospital with a staph infection that had turned toxic. Ever since then he has been under the care of an allergist and an ENT, since day 1 the allergist was concerned about CF. We were not apert from the chronic sinusitis Joel is a very athletic kid with no breathing problems he just ran a 65 yd touchdown last Sunday.

Yesterday the allergist called and said that the dna was back that it was alot of information but that it definitley showed he is a CF carrier he had consulted with his CF Colleagues and made an appt for Joel with a Peds Pulmonoligist this Thurs. He said she would more than likely start clinical testing.

What does all this mean?

Does he have CF? Should my husband and i be tested to see if we both carrier cf?

What is clinical testing?

I guess we are extremly emotional right now with a roller coaster of emotions...anybody who could explain in laymans terms would be appreciated. Thank You Rachel

rbecerra · Oct 11, 2008

We had a borderline sweat test and have been waiting 3 weeks for the dna test results for Joel our son. He is 9 years old has always had allergy problems and last winter ended up in childrens hospital with a staph infection that had turned toxic. Ever since then he has been under the care of an allergist and an ENT, since day 1 the allergist was concerned about CF. We were not apert from the chronic sinusitis Joel is a very athletic kid with no breathing problems he just ran a 65 yd touchdown last Sunday.

Yesterday the allergist called and said that the dna was back that it was alot of information but that it definitley showed he is a CF carrier he had consulted with his CF Colleagues and made an appt for Joel with a Peds Pulmonoligist this Thurs. He said she would more than likely start clinical testing.

What does all this mean?

Does he have CF? Should my husband and i be tested to see if we both carrier cf?

What is clinical testing?

I guess we are extremly emotional right now with a roller coaster of emotions...anybody who could explain in laymans terms would be appreciated. Thank You Rachel

rbecerra · Oct 11, 2008

We had a borderline sweat test and have been waiting 3 weeks for the dna test results for Joel our son. He is 9 years old has always had allergy problems and last winter ended up in childrens hospital with a staph infection that had turned toxic. Ever since then he has been under the care of an allergist and an ENT, since day 1 the allergist was concerned about CF. We were not apert from the chronic sinusitis Joel is a very athletic kid with no breathing problems he just ran a 65 yd touchdown last Sunday.
 
 Yesterday the allergist called and said that the dna was back that it was alot of information but that it definitley showed he is a CF carrier he had consulted with his CF Colleagues and made an appt for Joel with a Peds Pulmonoligist this Thurs. He said she would more than likely start clinical testing.
 
 What does all this mean?
 
 Does he have CF? Should my husband and i be tested to see if we both carrier cf?
 
 What is clinical testing?
 
 I guess we are extremly emotional right now with a roller coaster of emotions...anybody who could explain in laymans terms would be appreciated. Thank You Rachel

JazzysMom · Oct 11, 2008

First of all Welcome!

IF you understood the doctor correctly &/or the doctor explained it correctly it sounds like they found just one gene mutation for your son which as this point would make him just a carrier & not actually have CF.

HOWEVER we have many people on here who had borderline sweat tests & it took a lot more testing to find the 2nd gene mutation.

It sounds like Joel is active which is great. Not every CFer has lung issues from day 1. Mine didnt start until after my dx. I know many people that only had sinus issues until they were much older.

I am not sure what they mean by clinical testing UNLESS they are referring to sputum cultures (to check for common bacteria among CFers), pulmonary function tests (to measure lung function even if he is seemingly fine), blood work (vitamins ADEK levels can be low) and maybe stool samples (to see if he is absorbing adequate fat).

It could also mean additional genetic testing. Unless you happen to know how many gene mutations were tested for there might be room for more testing. There are over 1500 known mutations.

To prepare for the appointment on Thursday I would bring a notebook. Write down any ?? or concerns you want to address (both what you already have & what you might find through us) then write the answers to those & any other info down. If its going to be too much for you to write then consider getting a portable tape recorder because you think you might remember it all, but you really wont!

As to you & your husband being tested......that really depends on how extensive the genetic testing on Joel was so far. You already started the process with him so I would continue in that direction first. IF/WHEN they find TWO mutations in him then you might want to find out which one of you & your husband carry which mutation. Its not necessary to treat him tho!

Did I help you at all or confuse you more? LOL

Please ask more ???

JazzysMom · Oct 11, 2008

First of all Welcome!

IF you understood the doctor correctly &/or the doctor explained it correctly it sounds like they found just one gene mutation for your son which as this point would make him just a carrier & not actually have CF.

HOWEVER we have many people on here who had borderline sweat tests & it took a lot more testing to find the 2nd gene mutation.

It sounds like Joel is active which is great. Not every CFer has lung issues from day 1. Mine didnt start until after my dx. I know many people that only had sinus issues until they were much older.

I am not sure what they mean by clinical testing UNLESS they are referring to sputum cultures (to check for common bacteria among CFers), pulmonary function tests (to measure lung function even if he is seemingly fine), blood work (vitamins ADEK levels can be low) and maybe stool samples (to see if he is absorbing adequate fat).

It could also mean additional genetic testing. Unless you happen to know how many gene mutations were tested for there might be room for more testing. There are over 1500 known mutations.

To prepare for the appointment on Thursday I would bring a notebook. Write down any ?? or concerns you want to address (both what you already have & what you might find through us) then write the answers to those & any other info down. If its going to be too much for you to write then consider getting a portable tape recorder because you think you might remember it all, but you really wont!

As to you & your husband being tested......that really depends on how extensive the genetic testing on Joel was so far. You already started the process with him so I would continue in that direction first. IF/WHEN they find TWO mutations in him then you might want to find out which one of you & your husband carry which mutation. Its not necessary to treat him tho!

Did I help you at all or confuse you more? LOL

Please ask more ???

JazzysMom · Oct 11, 2008

First of all Welcome!

IF you understood the doctor correctly &/or the doctor explained it correctly it sounds like they found just one gene mutation for your son which as this point would make him just a carrier & not actually have CF.

HOWEVER we have many people on here who had borderline sweat tests & it took a lot more testing to find the 2nd gene mutation.

It sounds like Joel is active which is great. Not every CFer has lung issues from day 1. Mine didnt start until after my dx. I know many people that only had sinus issues until they were much older.

I am not sure what they mean by clinical testing UNLESS they are referring to sputum cultures (to check for common bacteria among CFers), pulmonary function tests (to measure lung function even if he is seemingly fine), blood work (vitamins ADEK levels can be low) and maybe stool samples (to see if he is absorbing adequate fat).

It could also mean additional genetic testing. Unless you happen to know how many gene mutations were tested for there might be room for more testing. There are over 1500 known mutations.

To prepare for the appointment on Thursday I would bring a notebook. Write down any ?? or concerns you want to address (both what you already have & what you might find through us) then write the answers to those & any other info down. If its going to be too much for you to write then consider getting a portable tape recorder because you think you might remember it all, but you really wont!

As to you & your husband being tested......that really depends on how extensive the genetic testing on Joel was so far. You already started the process with him so I would continue in that direction first. IF/WHEN they find TWO mutations in him then you might want to find out which one of you & your husband carry which mutation. Its not necessary to treat him tho!

Did I help you at all or confuse you more? LOL

Please ask more ???

JazzysMom · Oct 11, 2008

First of all Welcome!

IF you understood the doctor correctly &/or the doctor explained it correctly it sounds like they found just one gene mutation for your son which as this point would make him just a carrier & not actually have CF.

HOWEVER we have many people on here who had borderline sweat tests & it took a lot more testing to find the 2nd gene mutation.

It sounds like Joel is active which is great. Not every CFer has lung issues from day 1. Mine didnt start until after my dx. I know many people that only had sinus issues until they were much older.

I am not sure what they mean by clinical testing UNLESS they are referring to sputum cultures (to check for common bacteria among CFers), pulmonary function tests (to measure lung function even if he is seemingly fine), blood work (vitamins ADEK levels can be low) and maybe stool samples (to see if he is absorbing adequate fat).

It could also mean additional genetic testing. Unless you happen to know how many gene mutations were tested for there might be room for more testing. There are over 1500 known mutations.

To prepare for the appointment on Thursday I would bring a notebook. Write down any ?? or concerns you want to address (both what you already have & what you might find through us) then write the answers to those & any other info down. If its going to be too much for you to write then consider getting a portable tape recorder because you think you might remember it all, but you really wont!

As to you & your husband being tested......that really depends on how extensive the genetic testing on Joel was so far. You already started the process with him so I would continue in that direction first. IF/WHEN they find TWO mutations in him then you might want to find out which one of you & your husband carry which mutation. Its not necessary to treat him tho!

Did I help you at all or confuse you more? LOL

Please ask more ???

JazzysMom · Oct 11, 2008

First of all Welcome!
 
 IF you understood the doctor correctly &/or the doctor explained it correctly it sounds like they found just one gene mutation for your son which as this point would make him just a carrier & not actually have CF.
 
 HOWEVER we have many people on here who had borderline sweat tests & it took a lot more testing to find the 2nd gene mutation.
 
 It sounds like Joel is active which is great. Not every CFer has lung issues from day 1. Mine didnt start until after my dx. I know many people that only had sinus issues until they were much older.
 
 I am not sure what they mean by clinical testing UNLESS they are referring to sputum cultures (to check for common bacteria among CFers), pulmonary function tests (to measure lung function even if he is seemingly fine), blood work (vitamins ADEK levels can be low) and maybe stool samples (to see if he is absorbing adequate fat).
 
 It could also mean additional genetic testing. Unless you happen to know how many gene mutations were tested for there might be room for more testing. There are over 1500 known mutations.
 
 To prepare for the appointment on Thursday I would bring a notebook. Write down any ?? or concerns you want to address (both what you already have & what you might find through us) then write the answers to those & any other info down. If its going to be too much for you to write then consider getting a portable tape recorder because you think you might remember it all, but you really wont!
 
 As to you & your husband being tested......that really depends on how extensive the genetic testing on Joel was so far. You already started the process with him so I would continue in that direction first. IF/WHEN they find TWO mutations in him then you might want to find out which one of you & your husband carry which mutation. Its not necessary to treat him tho!
 
 Did I help you at all or confuse you more? LOL
 
 Please ask more ???

Alyssa · Oct 13, 2008

Melissa is right on...ditto to everything! My guess is too that they either didn't do extensive DNA testing or that they did and the second mutation is one of those quirky kind of things that is not so clear cut. There are some situations that are harder to pin point, but it is best to go do the testing that they recommend. My guess would be exactly the same there too, either they are doing more genetic testing and/or the usual CF tests of blood work, throat culture and pulmonary function testing.

If you are seeing a CF specialist and they do plan on doing all the regular testing, plan for being there for several hours, and yes, a recorder or note pad is a very good idea.

Best wishes, and please let us know how it goes.

Alyssa · Oct 13, 2008

Melissa is right on...ditto to everything! My guess is too that they either didn't do extensive DNA testing or that they did and the second mutation is one of those quirky kind of things that is not so clear cut. There are some situations that are harder to pin point, but it is best to go do the testing that they recommend. My guess would be exactly the same there too, either they are doing more genetic testing and/or the usual CF tests of blood work, throat culture and pulmonary function testing.

If you are seeing a CF specialist and they do plan on doing all the regular testing, plan for being there for several hours, and yes, a recorder or note pad is a very good idea.

Best wishes, and please let us know how it goes.

Alyssa · Oct 13, 2008

Melissa is right on...ditto to everything! My guess is too that they either didn't do extensive DNA testing or that they did and the second mutation is one of those quirky kind of things that is not so clear cut. There are some situations that are harder to pin point, but it is best to go do the testing that they recommend. My guess would be exactly the same there too, either they are doing more genetic testing and/or the usual CF tests of blood work, throat culture and pulmonary function testing.

If you are seeing a CF specialist and they do plan on doing all the regular testing, plan for being there for several hours, and yes, a recorder or note pad is a very good idea.

Best wishes, and please let us know how it goes.

Alyssa · Oct 13, 2008

Melissa is right on...ditto to everything! My guess is too that they either didn't do extensive DNA testing or that they did and the second mutation is one of those quirky kind of things that is not so clear cut. There are some situations that are harder to pin point, but it is best to go do the testing that they recommend. My guess would be exactly the same there too, either they are doing more genetic testing and/or the usual CF tests of blood work, throat culture and pulmonary function testing.

If you are seeing a CF specialist and they do plan on doing all the regular testing, plan for being there for several hours, and yes, a recorder or note pad is a very good idea.

Best wishes, and please let us know how it goes.

Alyssa · Oct 13, 2008

Melissa is right on...ditto to everything! My guess is too that they either didn't do extensive DNA testing or that they did and the second mutation is one of those quirky kind of things that is not so clear cut. There are some situations that are harder to pin point, but it is best to go do the testing that they recommend. My guess would be exactly the same there too, either they are doing more genetic testing and/or the usual CF tests of blood work, throat culture and pulmonary function testing.
 
 If you are seeing a CF specialist and they do plan on doing all the regular testing, plan for being there for several hours, and yes, a recorder or note pad is a very good idea.
 
 Best wishes, and please let us know how it goes.

JORDYSMOM · Oct 13, 2008

Hello and welcome. I'm just going to echo the other two posters. I hope you find the answers you need to help your child. Please keep us posted.

Stacey

JORDYSMOM · Oct 13, 2008

Hello and welcome. I'm just going to echo the other two posters. I hope you find the answers you need to help your child. Please keep us posted.

Stacey

JORDYSMOM · Oct 13, 2008

Hello and welcome. I'm just going to echo the other two posters. I hope you find the answers you need to help your child. Please keep us posted.

Stacey

JORDYSMOM · Oct 13, 2008

Hello and welcome. I'm just going to echo the other two posters. I hope you find the answers you need to help your child. Please keep us posted.

Stacey

JORDYSMOM · Oct 13, 2008

Hello and welcome. I'm just going to echo the other two posters. I hope you find the answers you need to help your child. Please keep us posted.
 
 Stacey

Joel's Doctor called with news confused with questions

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