I need answers....

holmfamily1992 · Mar 7, 2008

Hello,

This is for anyone who has gone through what we are right now. Back in December we were told that our son was negative for the delta508 gene. BUT what a carrier of R117H gene on the 5T and 7T. We received a phone call yesterday stating that he has an Atypical form of CF. Now my husband and I are on our way to be genetically tested as well.

My question is, If he has an Atypical form of CF what does this mean??? Will he be treated with the same meds as someone with typical CF? And when should they start this??? We understand what the differnce between typical and atypical is but I cant understand is why they havent started treatment. This boy is almost 10 and weighs 54 pounds. He has weighed this for a year now. His medicines that he is taking now seems to have platued. We are currently waiting for his doctor to call us back on that..

Any comments??
Tina

holmfamily1992 · Mar 7, 2008

Hello,

This is for anyone who has gone through what we are right now. Back in December we were told that our son was negative for the delta508 gene. BUT what a carrier of R117H gene on the 5T and 7T. We received a phone call yesterday stating that he has an Atypical form of CF. Now my husband and I are on our way to be genetically tested as well.

My question is, If he has an Atypical form of CF what does this mean??? Will he be treated with the same meds as someone with typical CF? And when should they start this??? We understand what the differnce between typical and atypical is but I cant understand is why they havent started treatment. This boy is almost 10 and weighs 54 pounds. He has weighed this for a year now. His medicines that he is taking now seems to have platued. We are currently waiting for his doctor to call us back on that..

Any comments??
Tina

holmfamily1992 · Mar 7, 2008

Hello,

This is for anyone who has gone through what we are right now. Back in December we were told that our son was negative for the delta508 gene. BUT what a carrier of R117H gene on the 5T and 7T. We received a phone call yesterday stating that he has an Atypical form of CF. Now my husband and I are on our way to be genetically tested as well.

My question is, If he has an Atypical form of CF what does this mean??? Will he be treated with the same meds as someone with typical CF? And when should they start this??? We understand what the differnce between typical and atypical is but I cant understand is why they havent started treatment. This boy is almost 10 and weighs 54 pounds. He has weighed this for a year now. His medicines that he is taking now seems to have platued. We are currently waiting for his doctor to call us back on that..

Any comments??
Tina

holmfamily1992 · Mar 7, 2008

Hello,

This is for anyone who has gone through what we are right now. Back in December we were told that our son was negative for the delta508 gene. BUT what a carrier of R117H gene on the 5T and 7T. We received a phone call yesterday stating that he has an Atypical form of CF. Now my husband and I are on our way to be genetically tested as well.

My question is, If he has an Atypical form of CF what does this mean??? Will he be treated with the same meds as someone with typical CF? And when should they start this??? We understand what the differnce between typical and atypical is but I cant understand is why they havent started treatment. This boy is almost 10 and weighs 54 pounds. He has weighed this for a year now. His medicines that he is taking now seems to have platued. We are currently waiting for his doctor to call us back on that..

Any comments??
Tina

holmfamily1992 · Mar 7, 2008

Hello,
 
 This is for anyone who has gone through what we are right now. Back in December we were told that our son was negative for the delta508 gene. BUT what a carrier of R117H gene on the 5T and 7T. We received a phone call yesterday stating that he has an Atypical form of CF. Now my husband and I are on our way to be genetically tested as well.
 
 My question is, If he has an Atypical form of CF what does this mean??? Will he be treated with the same meds as someone with typical CF? And when should they start this??? We understand what the differnce between typical and atypical is but I cant understand is why they havent started treatment. This boy is almost 10 and weighs 54 pounds. He has weighed this for a year now. His medicines that he is taking now seems to have platued. We are currently waiting for his doctor to call us back on that..
 
 Any comments??
 Tina

AbbysMama · Mar 7, 2008

What a terrible place to be in right now.

My daughter has DF508 and R117H-7T and is considered to have Atypical/Asymptomatic CF. We are having her followed with a CF clinic and we do regulary breathing and CPT treatments for her (up to twice daily for each)...and it is all preventative care right now.

I would think that they would begin looking at his medical history to see where they should begin treatment. I would request (demand if needed) to be sent to a local CF center for further testing if you are not using one already. They will begin any and all necessary treatments for your son.

I'm so sorry that you and your family are having to deal with all of this. I hope that knowing the cause will help your son receive the treatment he needs.

Emily

AbbysMama · Mar 7, 2008

What a terrible place to be in right now.

My daughter has DF508 and R117H-7T and is considered to have Atypical/Asymptomatic CF. We are having her followed with a CF clinic and we do regulary breathing and CPT treatments for her (up to twice daily for each)...and it is all preventative care right now.

I would think that they would begin looking at his medical history to see where they should begin treatment. I would request (demand if needed) to be sent to a local CF center for further testing if you are not using one already. They will begin any and all necessary treatments for your son.

I'm so sorry that you and your family are having to deal with all of this. I hope that knowing the cause will help your son receive the treatment he needs.

Emily

AbbysMama · Mar 7, 2008

What a terrible place to be in right now.

My daughter has DF508 and R117H-7T and is considered to have Atypical/Asymptomatic CF. We are having her followed with a CF clinic and we do regulary breathing and CPT treatments for her (up to twice daily for each)...and it is all preventative care right now.

I would think that they would begin looking at his medical history to see where they should begin treatment. I would request (demand if needed) to be sent to a local CF center for further testing if you are not using one already. They will begin any and all necessary treatments for your son.

I'm so sorry that you and your family are having to deal with all of this. I hope that knowing the cause will help your son receive the treatment he needs.

Emily

AbbysMama · Mar 7, 2008

What a terrible place to be in right now.

My daughter has DF508 and R117H-7T and is considered to have Atypical/Asymptomatic CF. We are having her followed with a CF clinic and we do regulary breathing and CPT treatments for her (up to twice daily for each)...and it is all preventative care right now.

I would think that they would begin looking at his medical history to see where they should begin treatment. I would request (demand if needed) to be sent to a local CF center for further testing if you are not using one already. They will begin any and all necessary treatments for your son.

I'm so sorry that you and your family are having to deal with all of this. I hope that knowing the cause will help your son receive the treatment he needs.

Emily

AbbysMama · Mar 7, 2008

What a terrible place to be in right now.
 
 My daughter has DF508 and R117H-7T and is considered to have Atypical/Asymptomatic CF. We are having her followed with a CF clinic and we do regulary breathing and CPT treatments for her (up to twice daily for each)...and it is all preventative care right now.
 
 I would think that they would begin looking at his medical history to see where they should begin treatment. I would request (demand if needed) to be sent to a local CF center for further testing if you are not using one already. They will begin any and all necessary treatments for your son.
 
 I'm so sorry that you and your family are having to deal with all of this. I hope that knowing the cause will help your son receive the treatment he needs.
 
 Emily

JORDYSMOM · Mar 7, 2008

Tina, I am sorry you guys are in "limbo" here. What meds is your son currently taking? I would think they would want him doing CPT and breathing treatments. Is the clinic you are going to accredited by the CFF?

There is much controversy over whether or not there is such a thing as Atypical CF. I think that anytime patients don't present with severe or obvious symptoms, they call it atypical. Since CF is a progressive disease, I feel that it still needs to be treated. Prevention is the key. Waiting until symptoms become obvious is waiting too long. My son wasn't dx until he was 15, because he was "atypical" or "mild". Having educated myself for 2 years now, and looking back on his childhood, I see the signs. I just didn't know enough then, and i was dependent on a family doctor who was well trusted. I sincerely believe the doctor did his best, but he was not educated enough, and I took his word for things. Hindsight really is 20/20. Also, since my son didn't receive preventative care, I feel he has lost some lung function that he could have retained.

I hope you find the answers you need to help your son. This site is great for education and support. Please let us know what happens at your appt.

Stacey

JORDYSMOM · Mar 7, 2008

Tina, I am sorry you guys are in "limbo" here. What meds is your son currently taking? I would think they would want him doing CPT and breathing treatments. Is the clinic you are going to accredited by the CFF?

There is much controversy over whether or not there is such a thing as Atypical CF. I think that anytime patients don't present with severe or obvious symptoms, they call it atypical. Since CF is a progressive disease, I feel that it still needs to be treated. Prevention is the key. Waiting until symptoms become obvious is waiting too long. My son wasn't dx until he was 15, because he was "atypical" or "mild". Having educated myself for 2 years now, and looking back on his childhood, I see the signs. I just didn't know enough then, and i was dependent on a family doctor who was well trusted. I sincerely believe the doctor did his best, but he was not educated enough, and I took his word for things. Hindsight really is 20/20. Also, since my son didn't receive preventative care, I feel he has lost some lung function that he could have retained.

I hope you find the answers you need to help your son. This site is great for education and support. Please let us know what happens at your appt.

Stacey

JORDYSMOM · Mar 7, 2008

Tina, I am sorry you guys are in "limbo" here. What meds is your son currently taking? I would think they would want him doing CPT and breathing treatments. Is the clinic you are going to accredited by the CFF?

There is much controversy over whether or not there is such a thing as Atypical CF. I think that anytime patients don't present with severe or obvious symptoms, they call it atypical. Since CF is a progressive disease, I feel that it still needs to be treated. Prevention is the key. Waiting until symptoms become obvious is waiting too long. My son wasn't dx until he was 15, because he was "atypical" or "mild". Having educated myself for 2 years now, and looking back on his childhood, I see the signs. I just didn't know enough then, and i was dependent on a family doctor who was well trusted. I sincerely believe the doctor did his best, but he was not educated enough, and I took his word for things. Hindsight really is 20/20. Also, since my son didn't receive preventative care, I feel he has lost some lung function that he could have retained.

I hope you find the answers you need to help your son. This site is great for education and support. Please let us know what happens at your appt.

Stacey

JORDYSMOM · Mar 7, 2008

Tina, I am sorry you guys are in "limbo" here. What meds is your son currently taking? I would think they would want him doing CPT and breathing treatments. Is the clinic you are going to accredited by the CFF?

There is much controversy over whether or not there is such a thing as Atypical CF. I think that anytime patients don't present with severe or obvious symptoms, they call it atypical. Since CF is a progressive disease, I feel that it still needs to be treated. Prevention is the key. Waiting until symptoms become obvious is waiting too long. My son wasn't dx until he was 15, because he was "atypical" or "mild". Having educated myself for 2 years now, and looking back on his childhood, I see the signs. I just didn't know enough then, and i was dependent on a family doctor who was well trusted. I sincerely believe the doctor did his best, but he was not educated enough, and I took his word for things. Hindsight really is 20/20. Also, since my son didn't receive preventative care, I feel he has lost some lung function that he could have retained.

I hope you find the answers you need to help your son. This site is great for education and support. Please let us know what happens at your appt.

Stacey

JORDYSMOM · Mar 7, 2008

Tina, I am sorry you guys are in "limbo" here. What meds is your son currently taking? I would think they would want him doing CPT and breathing treatments. Is the clinic you are going to accredited by the CFF?
 
 There is much controversy over whether or not there is such a thing as Atypical CF. I think that anytime patients don't present with severe or obvious symptoms, they call it atypical. Since CF is a progressive disease, I feel that it still needs to be treated. Prevention is the key. Waiting until symptoms become obvious is waiting too long. My son wasn't dx until he was 15, because he was "atypical" or "mild". Having educated myself for 2 years now, and looking back on his childhood, I see the signs. I just didn't know enough then, and i was dependent on a family doctor who was well trusted. I sincerely believe the doctor did his best, but he was not educated enough, and I took his word for things. Hindsight really is 20/20. Also, since my son didn't receive preventative care, I feel he has lost some lung function that he could have retained.
 
 I hope you find the answers you need to help your son. This site is great for education and support. Please let us know what happens at your appt.
 
 Stacey

Buckeye · Mar 7, 2008

Tina could they possibly have said that your son had Atypical CF because they only found one mutation instead of two?My son's CF is called Atypical, but they call it Atypical just because he they have not found any genetic mutations. Still has CF, has all signs of CF and they treat him the same as any other CFer, they just call it Atypical simply because her doesn't have two mutations . Hope that makes sense and didn't confuse the picture more.Also, the whole "Atypical" term is used differently at different clinics I think because some people use the term to mean a milder CF and then like at our clinic it is used to mean having CF without the total genetic picture and I'm sure someplace else might define the term totally different. You might want to clarify with your CF clinic what they mean by that. I am assuming the diagnosis was given to you by an accredited CF Clinic?

Buckeye · Mar 7, 2008

Tina could they possibly have said that your son had Atypical CF because they only found one mutation instead of two?My son's CF is called Atypical, but they call it Atypical just because he they have not found any genetic mutations. Still has CF, has all signs of CF and they treat him the same as any other CFer, they just call it Atypical simply because her doesn't have two mutations . Hope that makes sense and didn't confuse the picture more.Also, the whole "Atypical" term is used differently at different clinics I think because some people use the term to mean a milder CF and then like at our clinic it is used to mean having CF without the total genetic picture and I'm sure someplace else might define the term totally different. You might want to clarify with your CF clinic what they mean by that. I am assuming the diagnosis was given to you by an accredited CF Clinic?

Buckeye · Mar 7, 2008

Tina could they possibly have said that your son had Atypical CF because they only found one mutation instead of two?My son's CF is called Atypical, but they call it Atypical just because he they have not found any genetic mutations. Still has CF, has all signs of CF and they treat him the same as any other CFer, they just call it Atypical simply because her doesn't have two mutations . Hope that makes sense and didn't confuse the picture more.Also, the whole "Atypical" term is used differently at different clinics I think because some people use the term to mean a milder CF and then like at our clinic it is used to mean having CF without the total genetic picture and I'm sure someplace else might define the term totally different. You might want to clarify with your CF clinic what they mean by that. I am assuming the diagnosis was given to you by an accredited CF Clinic?

Buckeye · Mar 7, 2008

Tina could they possibly have said that your son had Atypical CF because they only found one mutation instead of two?My son's CF is called Atypical, but they call it Atypical just because he they have not found any genetic mutations. Still has CF, has all signs of CF and they treat him the same as any other CFer, they just call it Atypical simply because her doesn't have two mutations . Hope that makes sense and didn't confuse the picture more.Also, the whole "Atypical" term is used differently at different clinics I think because some people use the term to mean a milder CF and then like at our clinic it is used to mean having CF without the total genetic picture and I'm sure someplace else might define the term totally different. You might want to clarify with your CF clinic what they mean by that. I am assuming the diagnosis was given to you by an accredited CF Clinic?

Buckeye · Mar 7, 2008

Tina could they possibly have said that your son had Atypical CF because they only found one mutation instead of two?My son's CF is called Atypical, but they call it Atypical just because he they have not found any genetic mutations. Still has CF, has all signs of CF and they treat him the same as any other CFer, they just call it Atypical simply because her doesn't have two mutations . Hope that makes sense and didn't confuse the picture more.Also, the whole "Atypical" term is used differently at different clinics I think because some people use the term to mean a milder CF and then like at our clinic it is used to mean having CF without the total genetic picture and I'm sure someplace else might define the term totally different. You might want to clarify with your CF clinic what they mean by that. I am assuming the diagnosis was given to you by an accredited CF Clinic?

I need answers....

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