Atypical cf?

L

Lilliansmom

New member
Hi, I am new here. My DD is 6, and my DS is 4. They have both been followed at children's hospital boston since they were little. I also have a 7 year old an another 4 year old, both of whom seem very healthy.

Both kids have severe pancreatic insufficiency. Lillian was on TPN for a year and a half, and eats 3800 calories a day. Jack eats a little less. Both are considered FTT. Their GI ran the ambry test about a year ago, and it came back shoiwng both of them had 1 mutation. Lilly has had 3 sweat tests - 2 borderline, 1 negative, and Jack has had 2.

GI sent them to the CF clinic in Boston, but told us he knew they did not have CF, but wanted to see if they had any ideas. Both kids get pnuemonia 4 or 5 times a year, both have nasal polyps, Lilly has severe sinus infections and is on her 5th set of ear tubes. The pulm started out by saying that they did not have cf, but then left the room, came back with another doctor, both of whom were gowned, and said that he felt like they had atypical cf, since there is not a lot of lung involvement. Lillian had a lung function test, but I am not sure how to read the results. They said JAck was too young. Both had chest x-rays that showed scarring, but I am not sure what that means. Lilly tested positive for Staph on her throat culture, Jack did not.

Lilly broke her arm and needed surgery 2 weeks ago, and once we got to the ER and they pulled her records up they very quickly isolated her away from all the other patients. I am not sure what her records may have said.

We go back to see the pulm at the beg of June. Does it sound like this could be atypical cf? Does anyone know anything about atypical cf?
 
L

Lilliansmom

New member
Hi, I am new here. My DD is 6, and my DS is 4. They have both been followed at children's hospital boston since they were little. I also have a 7 year old an another 4 year old, both of whom seem very healthy.

Both kids have severe pancreatic insufficiency. Lillian was on TPN for a year and a half, and eats 3800 calories a day. Jack eats a little less. Both are considered FTT. Their GI ran the ambry test about a year ago, and it came back shoiwng both of them had 1 mutation. Lilly has had 3 sweat tests - 2 borderline, 1 negative, and Jack has had 2.

GI sent them to the CF clinic in Boston, but told us he knew they did not have CF, but wanted to see if they had any ideas. Both kids get pnuemonia 4 or 5 times a year, both have nasal polyps, Lilly has severe sinus infections and is on her 5th set of ear tubes. The pulm started out by saying that they did not have cf, but then left the room, came back with another doctor, both of whom were gowned, and said that he felt like they had atypical cf, since there is not a lot of lung involvement. Lillian had a lung function test, but I am not sure how to read the results. They said JAck was too young. Both had chest x-rays that showed scarring, but I am not sure what that means. Lilly tested positive for Staph on her throat culture, Jack did not.

Lilly broke her arm and needed surgery 2 weeks ago, and once we got to the ER and they pulled her records up they very quickly isolated her away from all the other patients. I am not sure what her records may have said.

We go back to see the pulm at the beg of June. Does it sound like this could be atypical cf? Does anyone know anything about atypical cf?
 
L

Lilliansmom

New member
Hi, I am new here. My DD is 6, and my DS is 4. They have both been followed at children's hospital boston since they were little. I also have a 7 year old an another 4 year old, both of whom seem very healthy.
<br />
<br />Both kids have severe pancreatic insufficiency. Lillian was on TPN for a year and a half, and eats 3800 calories a day. Jack eats a little less. Both are considered FTT. Their GI ran the ambry test about a year ago, and it came back shoiwng both of them had 1 mutation. Lilly has had 3 sweat tests - 2 borderline, 1 negative, and Jack has had 2.
<br />
<br />GI sent them to the CF clinic in Boston, but told us he knew they did not have CF, but wanted to see if they had any ideas. Both kids get pnuemonia 4 or 5 times a year, both have nasal polyps, Lilly has severe sinus infections and is on her 5th set of ear tubes. The pulm started out by saying that they did not have cf, but then left the room, came back with another doctor, both of whom were gowned, and said that he felt like they had atypical cf, since there is not a lot of lung involvement. Lillian had a lung function test, but I am not sure how to read the results. They said JAck was too young. Both had chest x-rays that showed scarring, but I am not sure what that means. Lilly tested positive for Staph on her throat culture, Jack did not.
<br />
<br />Lilly broke her arm and needed surgery 2 weeks ago, and once we got to the ER and they pulled her records up they very quickly isolated her away from all the other patients. I am not sure what her records may have said.
<br />
<br />We go back to see the pulm at the beg of June. Does it sound like this could be atypical cf? Does anyone know anything about atypical cf?
 
M

Mommafirst

Guest
From the way I understand it, "atypical cf" is a term used to describe CF that doesn't screen in a typical fashion meaning you don't have two genetic mutations or a positive sweat test. Atypical CF has NOTHING to do with severity. Its just a way to help identify that its not the sort of tried and true that we know about.

So beyond that -- CF is CF. And from what you say (staph in lungs, scarring on x-rays, pancreatic insufficiency, etc.) this is just like typical CF.

If you don't know what her records say, you have every right to request every single page of her medical records. It will cost you for the copies, but you should have them sent to your home so you can read them yourself.

I'd go directly to the CF center in Boston and try and get some answers. With the history of your kiddos, it would be best for them to have all the benefit of CF drugs and treatments. Keeping the "atypical" on the report may make it harder to get insurance coverage for things like the VEST and pulmozyme, so I'd work hard to get them to remove the atypical and replace it with a regular CF diagnosis.
 
M

Mommafirst

Guest
From the way I understand it, "atypical cf" is a term used to describe CF that doesn't screen in a typical fashion meaning you don't have two genetic mutations or a positive sweat test. Atypical CF has NOTHING to do with severity. Its just a way to help identify that its not the sort of tried and true that we know about.

So beyond that -- CF is CF. And from what you say (staph in lungs, scarring on x-rays, pancreatic insufficiency, etc.) this is just like typical CF.

If you don't know what her records say, you have every right to request every single page of her medical records. It will cost you for the copies, but you should have them sent to your home so you can read them yourself.

I'd go directly to the CF center in Boston and try and get some answers. With the history of your kiddos, it would be best for them to have all the benefit of CF drugs and treatments. Keeping the "atypical" on the report may make it harder to get insurance coverage for things like the VEST and pulmozyme, so I'd work hard to get them to remove the atypical and replace it with a regular CF diagnosis.
 
M

Mommafirst

Guest
From the way I understand it, "atypical cf" is a term used to describe CF that doesn't screen in a typical fashion meaning you don't have two genetic mutations or a positive sweat test. Atypical CF has NOTHING to do with severity. Its just a way to help identify that its not the sort of tried and true that we know about.
<br />
<br />So beyond that -- CF is CF. And from what you say (staph in lungs, scarring on x-rays, pancreatic insufficiency, etc.) this is just like typical CF.
<br />
<br />If you don't know what her records say, you have every right to request every single page of her medical records. It will cost you for the copies, but you should have them sent to your home so you can read them yourself.
<br />
<br />I'd go directly to the CF center in Boston and try and get some answers. With the history of your kiddos, it would be best for them to have all the benefit of CF drugs and treatments. Keeping the "atypical" on the report may make it harder to get insurance coverage for things like the VEST and pulmozyme, so I'd work hard to get them to remove the atypical and replace it with a regular CF diagnosis.
 
M

martysmom

New member
I am so sorry you are going through all of this! Your situation is very similar to mine. My son is 4 and has pancreatic insufficiency and a borderline sweat test. He has a lot of lung involvement as well. It has been such a horrible battle for us and I hate to hear of others going through it as well. It is very difficult to get things covered and for doctors to take me seriously without having a definitive diagnosis on my son. I have to fight insurance company left and right. I like Heather's advice on getting the atypical out of the diagnosis, but I do not know if that is possible. If it were we would have been done with this a long time ago. I am assuming doctor's have to have two positive sweats and/or two mutations to diagnose regular CF. If you fight everything you WILL get everything your children need. Your doctors should be treating there symptoms and if they aren't, go to a new doctor. We took our son out of the CF center he was in and went somewhere else and it was the best move we made. I hope you are doing well and I will keep you guys in my prayers!!
 
M

martysmom

New member
I am so sorry you are going through all of this! Your situation is very similar to mine. My son is 4 and has pancreatic insufficiency and a borderline sweat test. He has a lot of lung involvement as well. It has been such a horrible battle for us and I hate to hear of others going through it as well. It is very difficult to get things covered and for doctors to take me seriously without having a definitive diagnosis on my son. I have to fight insurance company left and right. I like Heather's advice on getting the atypical out of the diagnosis, but I do not know if that is possible. If it were we would have been done with this a long time ago. I am assuming doctor's have to have two positive sweats and/or two mutations to diagnose regular CF. If you fight everything you WILL get everything your children need. Your doctors should be treating there symptoms and if they aren't, go to a new doctor. We took our son out of the CF center he was in and went somewhere else and it was the best move we made. I hope you are doing well and I will keep you guys in my prayers!!
 
M

martysmom

New member
I am so sorry you are going through all of this! Your situation is very similar to mine. My son is 4 and has pancreatic insufficiency and a borderline sweat test. He has a lot of lung involvement as well. It has been such a horrible battle for us and I hate to hear of others going through it as well. It is very difficult to get things covered and for doctors to take me seriously without having a definitive diagnosis on my son. I have to fight insurance company left and right. I like Heather's advice on getting the atypical out of the diagnosis, but I do not know if that is possible. If it were we would have been done with this a long time ago. I am assuming doctor's have to have two positive sweats and/or two mutations to diagnose regular CF. If you fight everything you WILL get everything your children need. Your doctors should be treating there symptoms and if they aren't, go to a new doctor. We took our son out of the CF center he was in and went somewhere else and it was the best move we made. I hope you are doing well and I will keep you guys in my prayers!!
 
L

Lilliansmom

New member
Thank you to both of you.

Heather, I think we did speak on P2P a year or so ago.

How reliable are the sweat tests? I keep coming back to the fact that they both had a negative one. Lillian's were 56, 59, and 39. Jack's were 36 and 59.

We do go back to the CF clinic in Boston on June 2nd. He has both of them on flovent right now, but in addition to the enzymes, that is all they are taking. I will talk to them about getting the atypical part taken off, and I do plan to get their records. I have most of Lilly's from the first 4 years, but have slacked off during the past 2.

Thanks again for your advice.
 
L

Lilliansmom

New member
Thank you to both of you.

Heather, I think we did speak on P2P a year or so ago.

How reliable are the sweat tests? I keep coming back to the fact that they both had a negative one. Lillian's were 56, 59, and 39. Jack's were 36 and 59.

We do go back to the CF clinic in Boston on June 2nd. He has both of them on flovent right now, but in addition to the enzymes, that is all they are taking. I will talk to them about getting the atypical part taken off, and I do plan to get their records. I have most of Lilly's from the first 4 years, but have slacked off during the past 2.

Thanks again for your advice.
 
L

Lilliansmom

New member
Thank you to both of you.
<br />
<br />Heather, I think we did speak on P2P a year or so ago.
<br />
<br />How reliable are the sweat tests? I keep coming back to the fact that they both had a negative one. Lillian's were 56, 59, and 39. Jack's were 36 and 59.
<br />
<br />We do go back to the CF clinic in Boston on June 2nd. He has both of them on flovent right now, but in addition to the enzymes, that is all they are taking. I will talk to them about getting the atypical part taken off, and I do plan to get their records. I have most of Lilly's from the first 4 years, but have slacked off during the past 2.
<br />
<br />Thanks again for your advice.
 
M

Mommafirst

Guest
sweat tests are not particularly reliable. False negatives are very common. Ask around here and you will find lots of folks with confirmed CF and sweat tests in the negative or borderline range. My daughter's 2 sweat tests were a 45 and 53. A 59 is essentially a positive.
 
M

Mommafirst

Guest
sweat tests are not particularly reliable. False negatives are very common. Ask around here and you will find lots of folks with confirmed CF and sweat tests in the negative or borderline range. My daughter's 2 sweat tests were a 45 and 53. A 59 is essentially a positive.
 
M

Mommafirst

Guest
sweat tests are not particularly reliable. False negatives are very common. Ask around here and you will find lots of folks with confirmed CF and sweat tests in the negative or borderline range. My daughter's 2 sweat tests were a 45 and 53. A 59 is essentially a positive.
 
L

LouLou

New member
Pneumonia is a very severe lung infection that is diagnosed by a certain sound audible by stethoscope and viewable by chest xray. It is not something a typical child gets as you know. In the cf community it is avoided like the plague by preventative measures and acting fast when a chest infection starts (precursor to pneumonia). Do your kids really have pneumonia 4-5 times a year or did you mean a chest cold? I'm not sure how any cf doctor would say that this child has no lung involvement. In fact this sounds very severe. At 32 I can tell you exactly the dates of the two pneumonias I've had. And for reference I am not considered disabled by the US government.

Are you doing all the typical cf treatments? If not it's time to demand being armed with the techniques and medication to best care for your children to PREVENT any further damage.
 
L

LouLou

New member
Pneumonia is a very severe lung infection that is diagnosed by a certain sound audible by stethoscope and viewable by chest xray. It is not something a typical child gets as you know. In the cf community it is avoided like the plague by preventative measures and acting fast when a chest infection starts (precursor to pneumonia). Do your kids really have pneumonia 4-5 times a year or did you mean a chest cold? I'm not sure how any cf doctor would say that this child has no lung involvement. In fact this sounds very severe. At 32 I can tell you exactly the dates of the two pneumonias I've had. And for reference I am not considered disabled by the US government.

Are you doing all the typical cf treatments? If not it's time to demand being armed with the techniques and medication to best care for your children to PREVENT any further damage.
 
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