Definitive Diagnosis and ?'s

F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
F

Fullahope

New member
My 16 year old son was definitely confirmed CF via Ambry DNA. He has R1066C and P750L, both hispanic mutations the R1066C being the one that can cause classic CF symptoms, the other one is a novel mutation not alot of information on it. His Ct lungs and CT sinus scans were excellent no damage found at all, no malabsorbsion issues found in tests no infections in sputum samples. He's 5ft 8 inches 200lbs and other than sinus issues and some digestive he's doing real well. Doctor classifies him as mild, maybe Atypical due to good health and little symptoms. They will still check pancrease and stomach issues a little further, referral to Gastro doc but other than his current meds of nasal cort AQ, saline spray and daily allergy pill doctor does not recommend any treatment because his lungs are healthy and strong 127% function and nothing found on nasal CT scan so basically he didn't sound real sure how to treat him due to his minor symptoms. I guess I was expecting some kind of preventative treatment, enzymes, lung treatment, hypertonic saline, something but we walked away with no treatment plan of some sort with the confirmed CF diagnosis. I guess I'm confused not sure what to think. He did talk to us about possibilities of not being able to have a child someday and maybe something we want to look at next see a urologist but because of his age I don't think it's something we need to do immediately. I've been up and down the last 3 months coming to terms with acceptance, preparing myself for the worse (positive DNA), then falling all over again because it was real. I was expecting some kind of treatment plan and I got nadda, does this sound right. I'm so thankful he's healthy don't get me wrong, I'm just a little worried that maybe something more should be done. Any advice appreciated.

Thanks.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
A

Alyssa

New member
That's a pretty excellent PFT reading - if he also has never had any lung issues like infections, then yes - you are probably just fine without any lung treatements yet. Also about 20% of people with CF are pancreatic sufficient, so if he is sufficient he wouldn't need enzymes either.

My kids are both "A-Typical" too. You can read more about them on my blog (link is below)

Feel free to send me a private message or post here again if you have any more questions for me.
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
C

codysmommy

New member
Wow that is fantastic news! I have a 5 year old boy who was diagnosed at 3 months old. He does he chest thearapy twice a day a breathing treatment once a day, he has a g-button for his tube feedings, and he take 3creon 10's and 2 pancreacarbs (enzyems) with every meal. He had sinus surgery in April to remove nasal polyps and to clear out his sinuses. And we just spent 10 days in the hospital for a "tuneup". I am so happy that he was diagnosed so late I hope he has long and healthy life.

mom of cody 5 w/cf
 
R

Rebjane

Super Moderator
I'm sorry for your son's CF diagnosis, but it's great that his numbers look good and he's doing well. I do not know alot about atypical CF but I think preventative care is always a good thing. It seems reasonable to learn how to do CPT/nebs in case he gets sick. Some CF docs do put patients on CPT regardless of lung involvement because CF is a progressive disease. Of course, encourageing an active, healthy lifestyle is a good preventative thing in CF; sports, exersize, well-rounded healthy diet with good fats(omega3 fats). Your son should be very involved in learning about CF as he is so close to becoming an adult.
 
R

Rebjane

Super Moderator
I'm sorry for your son's CF diagnosis, but it's great that his numbers look good and he's doing well. I do not know alot about atypical CF but I think preventative care is always a good thing. It seems reasonable to learn how to do CPT/nebs in case he gets sick. Some CF docs do put patients on CPT regardless of lung involvement because CF is a progressive disease. Of course, encourageing an active, healthy lifestyle is a good preventative thing in CF; sports, exersize, well-rounded healthy diet with good fats(omega3 fats). Your son should be very involved in learning about CF as he is so close to becoming an adult.
 
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