My son's father tells him he DOES NOT HAVE CF!

M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
<br />What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
<br />What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
M

Mistyjo

New member
Posoutlook, I was told I was not a carrier for cf. I didn't question it (assumed they knew what they were talking about). When my daughter's doctor wanted to test her I said no. Then when i was asked a second time, I said ok let's get this out of the way. The first test came back borderline. I assumed they messed up the test. Then I started researching and actually went to my gyno who tested me and got my results. They only tested me for 32 of the most common. I was mad!!! My daughter has TWO RARE CF gene mutations!!! One is for sure disease causing the other they wasn't sure about but now know it doesn't work right either hence the positive test with the colon tissue.
<br />What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
 
P

posoutlook

New member
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?

Johns Hopkins was the hospital that confirmed his diagnosis we are going to do the Nasal Potential Difference test but they won't even consider it until my son is 12. And yes he did have the full gene sequencing test and what they are saying is although it is very rare yes he still can have a gene mutation they have not identified yet. And he did have a repeat sweat test and the first one was 45 and 64 the second time it was 64 and 68.

He goes back to the clinic this week I will ask why they have not tested me.
 
P

posoutlook

New member
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?

Johns Hopkins was the hospital that confirmed his diagnosis we are going to do the Nasal Potential Difference test but they won't even consider it until my son is 12. And yes he did have the full gene sequencing test and what they are saying is although it is very rare yes he still can have a gene mutation they have not identified yet. And he did have a repeat sweat test and the first one was 45 and 64 the second time it was 64 and 68.

He goes back to the clinic this week I will ask why they have not tested me.
 
P

posoutlook

New member
What I'm saying is make sure they did the full gene sequencing on your son and not just for the most common mutations. From what I've read you can still have a gene mutation they haven't identified yet, not likey, but possible. There are other tests they can do too besides the sweat test. Has he had Nasal Potential Difference test?
<br />
<br />Johns Hopkins was the hospital that confirmed his diagnosis we are going to do the Nasal Potential Difference test but they won't even consider it until my son is 12. And yes he did have the full gene sequencing test and what they are saying is although it is very rare yes he still can have a gene mutation they have not identified yet. And he did have a repeat sweat test and the first one was 45 and 64 the second time it was 64 and 68.
<br />
<br />He goes back to the clinic this week I will ask why they have not tested me.
<br />
<br />
 
J

just1more

New member
Ok, let me see if I can tackle this:<br><br>1) If they did the full sequencing (would have checked ~1500 mutations); then there is no need to test you or his father.  They would be looking for the same mutations.<br><br>2) In order for your son to have CF, he would have to have 2 mutations, one from each parent.  It is possible that you can have 2 unknown mutations; but it would be very rare and you won't find much clear answer to questions due to this.<br><br>3) His symptoms are atypical (as you are aware) and his sweat tests are positive but not strongly.  Without mutations you will have trouble 'proving' that he has CF.  While you have a diagnosis from a CF center; without any testing to back it up you are facing an uphill climb.<br><br>4) I am going on 'gut' not any legal background; but I think you might have a case that he is not in your child's best interest if he is fighting over medical care and MIGHT be able to limit access.  However, since he would have no trouble finding a Dr to say your son doesn't have CF I don't know how a judge would rule and unfortunately in this case; he has the same rights to his son as you do unless a judge feels he is actually harming him.<br><br><img src="i/expressions/face-icon-small-sad.gif" border="0"><br>
 
J

just1more

New member
Ok, let me see if I can tackle this:<br><br>1) If they did the full sequencing (would have checked ~1500 mutations); then there is no need to test you or his father. They would be looking for the same mutations.<br><br>2) In order for your son to have CF, he would have to have 2 mutations, one from each parent. It is possible that you can have 2 unknown mutations; but it would be very rare and you won't find much clear answer to questions due to this.<br><br>3) His symptoms are atypical (as you are aware) and his sweat tests are positive but not strongly. Without mutations you will have trouble 'proving' that he has CF. While you have a diagnosis from a CF center; without any testing to back it up you are facing an uphill climb.<br><br>4) I am going on 'gut' not any legal background; but I think you might have a case that he is not in your child's best interest if he is fighting over medical care and MIGHT be able to limit access. However, since he would have no trouble finding a Dr to say your son doesn't have CF I don't know how a judge would rule and unfortunately in this case; he has the same rights to his son as you do unless a judge feels he is actually harming him.<br><br><img src="i/expressions/face-icon-small-sad.gif" border="0"><br>
 
J

just1more

New member
Ok, let me see if I can tackle this:<br><br>1) If they did the full sequencing (would have checked ~1500 mutations); then there is no need to test you or his father. They would be looking for the same mutations.<br><br>2) In order for your son to have CF, he would have to have 2 mutations, one from each parent. It is possible that you can have 2 unknown mutations; but it would be very rare and you won't find much clear answer to questions due to this.<br><br>3) His symptoms are atypical (as you are aware) and his sweat tests are positive but not strongly. Without mutations you will have trouble 'proving' that he has CF. While you have a diagnosis from a CF center; without any testing to back it up you are facing an uphill climb.<br><br>4) I am going on 'gut' not any legal background; but I think you might have a case that he is not in your child's best interest if he is fighting over medical care and MIGHT be able to limit access. However, since he would have no trouble finding a Dr to say your son doesn't have CF I don't know how a judge would rule and unfortunately in this case; he has the same rights to his son as you do unless a judge feels he is actually harming him.<br><br><img src="i/expressions/face-icon-small-sad.gif" border="0"><br>
 
M

Mistyjo

New member
Ok, sorry I missed they did the full gene sequencing. I can understand why they don't want to do the NPD b/c my daughter is 5 yo and they tried the NPD with her and she flipped on them during the test. She only made it thru the first stage which was just the baseline -30 and positive for cf is -30 and below. It was really hard on her. Good luck and hope you get answers soon.
 
M

Mistyjo

New member
Ok, sorry I missed they did the full gene sequencing. I can understand why they don't want to do the NPD b/c my daughter is 5 yo and they tried the NPD with her and she flipped on them during the test. She only made it thru the first stage which was just the baseline -30 and positive for cf is -30 and below. It was really hard on her. Good luck and hope you get answers soon.
 
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