NEED SOME ANSWERS FROM PARENTS FOR FRIDAY APPT

T

Tinymiracle1

New member
My daughter has received two positive sweat tests. First one was 146. Then we were sent to another lab at a Cystic Fibrosis hospital and she had a 70 in one arm and not enough sweat for a number in the other arm. We were then called and asked to come in this Friday for an appt to do blood work for the genetic test. Doctor explained that when they test it and hit a negative, they will move up a level and keep testing it. We are suppose to meet doctors, nurses, social worker, nutritionist, etc on Friday. I am still trying to process this information and I am holding on to some hope that maybe she isn't CF. She does have red flags...constant fatigue, major GI and Bowel issues (she is a preemie born 14 weeks early) Currently she is 8 months old but 4.5 months adjusted age. She has had three URI(upper resp infections) and when cleared from them, she seems to sound "junky" a lot of the time (not all of the time). She is being fed by NG tube for lack of weight gain. She had severe GERD and she takes 4-50mls a day thru bottle and the rest via NG feeds at night for 10 hours. She started to lose weight (a pound in a month) which prompted the sweat tests. The CF doctor commented on possibly starting her on CF therapy and I believe digestive enzymes. I have some questions about this. Lets say she ends up not having CF, can it hurt her to put enzymes into her body or cause an adverse reaction, etc??

Also, I have questions about the genetic aspect of this. I have come across some websites that talk about maybe not finding the gene. Is this true??? If so, do they fall back on the two positive sweat tests as a definite diagnosis? Is there anyone out there that has the symptoms, the positive sweat tests, but nothing found in the genetic part of it????? If you have any advice or answers to my questions, it would be greatly appreciated. It is overwhelmeing and I just want to be prepared for Friday.

Thanks so much!!!
 
T

Tinymiracle1

New member
My daughter has received two positive sweat tests. First one was 146. Then we were sent to another lab at a Cystic Fibrosis hospital and she had a 70 in one arm and not enough sweat for a number in the other arm. We were then called and asked to come in this Friday for an appt to do blood work for the genetic test. Doctor explained that when they test it and hit a negative, they will move up a level and keep testing it. We are suppose to meet doctors, nurses, social worker, nutritionist, etc on Friday. I am still trying to process this information and I am holding on to some hope that maybe she isn't CF. She does have red flags...constant fatigue, major GI and Bowel issues (she is a preemie born 14 weeks early) Currently she is 8 months old but 4.5 months adjusted age. She has had three URI(upper resp infections) and when cleared from them, she seems to sound "junky" a lot of the time (not all of the time). She is being fed by NG tube for lack of weight gain. She had severe GERD and she takes 4-50mls a day thru bottle and the rest via NG feeds at night for 10 hours. She started to lose weight (a pound in a month) which prompted the sweat tests. The CF doctor commented on possibly starting her on CF therapy and I believe digestive enzymes. I have some questions about this. Lets say she ends up not having CF, can it hurt her to put enzymes into her body or cause an adverse reaction, etc??

Also, I have questions about the genetic aspect of this. I have come across some websites that talk about maybe not finding the gene. Is this true??? If so, do they fall back on the two positive sweat tests as a definite diagnosis? Is there anyone out there that has the symptoms, the positive sweat tests, but nothing found in the genetic part of it????? If you have any advice or answers to my questions, it would be greatly appreciated. It is overwhelmeing and I just want to be prepared for Friday.

Thanks so much!!!
 
T

Tinymiracle1

New member
My daughter has received two positive sweat tests. First one was 146. Then we were sent to another lab at a Cystic Fibrosis hospital and she had a 70 in one arm and not enough sweat for a number in the other arm. We were then called and asked to come in this Friday for an appt to do blood work for the genetic test. Doctor explained that when they test it and hit a negative, they will move up a level and keep testing it. We are suppose to meet doctors, nurses, social worker, nutritionist, etc on Friday. I am still trying to process this information and I am holding on to some hope that maybe she isn't CF. She does have red flags...constant fatigue, major GI and Bowel issues (she is a preemie born 14 weeks early) Currently she is 8 months old but 4.5 months adjusted age. She has had three URI(upper resp infections) and when cleared from them, she seems to sound "junky" a lot of the time (not all of the time). She is being fed by NG tube for lack of weight gain. She had severe GERD and she takes 4-50mls a day thru bottle and the rest via NG feeds at night for 10 hours. She started to lose weight (a pound in a month) which prompted the sweat tests. The CF doctor commented on possibly starting her on CF therapy and I believe digestive enzymes. I have some questions about this. Lets say she ends up not having CF, can it hurt her to put enzymes into her body or cause an adverse reaction, etc??
<br />
<br />Also, I have questions about the genetic aspect of this. I have come across some websites that talk about maybe not finding the gene. Is this true??? If so, do they fall back on the two positive sweat tests as a definite diagnosis? Is there anyone out there that has the symptoms, the positive sweat tests, but nothing found in the genetic part of it????? If you have any advice or answers to my questions, it would be greatly appreciated. It is overwhelmeing and I just want to be prepared for Friday.
<br />
<br />Thanks so much!!!
 
R

Ratatosk

Administrator
Staff member
CF therapy can also being nebulizers and chest physiotherapy. Reflux meds, vitamins. I would think they'd do a fecal fat test to determine pancreatic insufficiency before starting her on enzymes...
 
R

Ratatosk

Administrator
Staff member
CF therapy can also being nebulizers and chest physiotherapy. Reflux meds, vitamins. I would think they'd do a fecal fat test to determine pancreatic insufficiency before starting her on enzymes...
 
R

Ratatosk

Administrator
Staff member
CF therapy can also being nebulizers and chest physiotherapy. Reflux meds, vitamins. I would think they'd do a fecal fat test to determine pancreatic insufficiency before starting her on enzymes...
 
M

Mommafirst

Guest
I know you are scared and overwhelmed, and you are probably coming here looking for hope that there is still a ticket out. . . but as far as I know, they will diagnose CF with 2 positive sweats and those symptoms, regardless of whether they find genes or not.

For what it is worth, the enzymes are not a problem. If she doesn't need them, which it sounds like she does, it will not hurt her. My duaghter is pancreatic SUFficient -- though most CF patients are pancreatic INsufficient -- and she still takes enzymes to help her gain waight.

I'm so sorry you are going through this. The diagnosis process is really really difficult. Welcome to the place you never thought you'd need.
 
M

Mommafirst

Guest
I know you are scared and overwhelmed, and you are probably coming here looking for hope that there is still a ticket out. . . but as far as I know, they will diagnose CF with 2 positive sweats and those symptoms, regardless of whether they find genes or not.

For what it is worth, the enzymes are not a problem. If she doesn't need them, which it sounds like she does, it will not hurt her. My duaghter is pancreatic SUFficient -- though most CF patients are pancreatic INsufficient -- and she still takes enzymes to help her gain waight.

I'm so sorry you are going through this. The diagnosis process is really really difficult. Welcome to the place you never thought you'd need.
 
M

Mommafirst

Guest
I know you are scared and overwhelmed, and you are probably coming here looking for hope that there is still a ticket out. . . but as far as I know, they will diagnose CF with 2 positive sweats and those symptoms, regardless of whether they find genes or not.
<br />
<br />For what it is worth, the enzymes are not a problem. If she doesn't need them, which it sounds like she does, it will not hurt her. My duaghter is pancreatic SUFficient -- though most CF patients are pancreatic INsufficient -- and she still takes enzymes to help her gain waight.
<br />
<br />I'm so sorry you are going through this. The diagnosis process is really really difficult. Welcome to the place you never thought you'd need.
 
K

kellyga

New member
Just from the sweat tests and other symptoms you described it does sound like CF. I am sorry to say that. While clinic can be very overwhelming, in the best circumstances it is a very positive experience. Everyone has their own speciality, and they are all there to see that your baby is as healthy as she can be. Take a notebook with you and write everything down. You can't process everything they tell you right away. Also ask if they have any kind of family mentor program where you can talk to other families that go to your clinic.

The diagnosis is sad, but your daughter will improve under their care. Hope everything goes well.
 
K

kellyga

New member
Just from the sweat tests and other symptoms you described it does sound like CF. I am sorry to say that. While clinic can be very overwhelming, in the best circumstances it is a very positive experience. Everyone has their own speciality, and they are all there to see that your baby is as healthy as she can be. Take a notebook with you and write everything down. You can't process everything they tell you right away. Also ask if they have any kind of family mentor program where you can talk to other families that go to your clinic.

The diagnosis is sad, but your daughter will improve under their care. Hope everything goes well.
 
K

kellyga

New member
Just from the sweat tests and other symptoms you described it does sound like CF. I am sorry to say that. While clinic can be very overwhelming, in the best circumstances it is a very positive experience. Everyone has their own speciality, and they are all there to see that your baby is as healthy as she can be. Take a notebook with you and write everything down. You can't process everything they tell you right away. Also ask if they have any kind of family mentor program where you can talk to other families that go to your clinic.
<br />
<br />The diagnosis is sad, but your daughter will improve under their care. Hope everything goes well.
 
T

Tinymiracle1

New member
Thank you everyone for replying to my post. It is greatly appreciated. I guess I will go to the appt with the idea that she does have CF and see what happens during the whole appt and when meeting the CF team. Thanks for all your help. This seems like a great community to join (if you have too.)
 
T

Tinymiracle1

New member
Thank you everyone for replying to my post. It is greatly appreciated. I guess I will go to the appt with the idea that she does have CF and see what happens during the whole appt and when meeting the CF team. Thanks for all your help. This seems like a great community to join (if you have too.)
 
T

Tinymiracle1

New member
Thank you everyone for replying to my post. It is greatly appreciated. I guess I will go to the appt with the idea that she does have CF and see what happens during the whole appt and when meeting the CF team. Thanks for all your help. This seems like a great community to join (if you have too.)
 
I

imagine04

New member
I have to agree with everyone that has posted so far. It does sound like CF. My son was diagnosed at 3wks old on 11/15/10 via having 1 mutated gene on his newborn screen (DF508 very common gene) and 2 positive sweat tests (111 for the first and 112 for the second) so it is possible for the docs to go ahead and start treating with just 2 positive sweat tests. Even with a chloride level of 70 on the one that is still higher then they want. According to our clinic team they consider borderline for infants between 40-60.

While i know you're scared please take some comfort in the fact that you will be treating your daughter at a very young age and there is hope even though it may not seem like it now. I still cry at least once a day and do get overwhelmed by my "new normal" but it IS getting better. The enzymes do not hurt at all and just become a routine along with all of the other meds they will surely get her on. Please keep coming back to the forums... even if you don't post there is so much information that you can get from them! I'll be thinking about you and your daughter. Please let us know how things went when you're ready!
 
I

imagine04

New member
I have to agree with everyone that has posted so far. It does sound like CF. My son was diagnosed at 3wks old on 11/15/10 via having 1 mutated gene on his newborn screen (DF508 very common gene) and 2 positive sweat tests (111 for the first and 112 for the second) so it is possible for the docs to go ahead and start treating with just 2 positive sweat tests. Even with a chloride level of 70 on the one that is still higher then they want. According to our clinic team they consider borderline for infants between 40-60.

While i know you're scared please take some comfort in the fact that you will be treating your daughter at a very young age and there is hope even though it may not seem like it now. I still cry at least once a day and do get overwhelmed by my "new normal" but it IS getting better. The enzymes do not hurt at all and just become a routine along with all of the other meds they will surely get her on. Please keep coming back to the forums... even if you don't post there is so much information that you can get from them! I'll be thinking about you and your daughter. Please let us know how things went when you're ready!
 
I

imagine04

New member
I have to agree with everyone that has posted so far. It does sound like CF. My son was diagnosed at 3wks old on 11/15/10 via having 1 mutated gene on his newborn screen (DF508 very common gene) and 2 positive sweat tests (111 for the first and 112 for the second) so it is possible for the docs to go ahead and start treating with just 2 positive sweat tests. Even with a chloride level of 70 on the one that is still higher then they want. According to our clinic team they consider borderline for infants between 40-60.
<br />
<br />While i know you're scared please take some comfort in the fact that you will be treating your daughter at a very young age and there is hope even though it may not seem like it now. I still cry at least once a day and do get overwhelmed by my "new normal" but it IS getting better. The enzymes do not hurt at all and just become a routine along with all of the other meds they will surely get her on. Please keep coming back to the forums... even if you don't post there is so much information that you can get from them! I'll be thinking about you and your daughter. Please let us know how things went when you're ready!
 
F

flwrchldkb

New member
My daughter was diagnosed 12/7/10 with only one mutated gene and one positive sweat test. We went through that first cf visit last week and it is a lot to take in all at once. Just know that they won't do anything that they don't deem necessary for your daughter's health. It is scary to hear the diagnosis and you have to take the rest day by day. The care and treatment of this is easier to handle than the emotions most days. Just know that there are plenty of people willing to support and listen!
 
F

flwrchldkb

New member
My daughter was diagnosed 12/7/10 with only one mutated gene and one positive sweat test. We went through that first cf visit last week and it is a lot to take in all at once. Just know that they won't do anything that they don't deem necessary for your daughter's health. It is scary to hear the diagnosis and you have to take the rest day by day. The care and treatment of this is easier to handle than the emotions most days. Just know that there are plenty of people willing to support and listen!
 
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