How do you decide when to test a sibling?

[Lilliansmom]

We go back to clinic in two weeks, and could use some thoughts on this.

DD (7) and DS (5) have been dx as atypical cf. They both had borderline and negative sweat tests. Both have huge GI issues, some lungissues. DS has had pneumonia multiple times the past 3 years, DD has had it twice a year for the past few years. Both have sinus issues. DD cultured staph when they bronched her last fall. DS had a lung collapse with his latest round of pneumonia in January. Both have clubbing on their fingers.

Both have had the ambry testing done, with one mutation found, but have been given an atypical cf dx because of symptoms. The cf clinic is guessing that their other mutation has not been identified.

So, we always assumed dd (5) was fine. She has not had any of the symptoms that the other two have. She is tiny - very tiny - at 5 1/2 she weighs about 34 pounds, yet eats way more than any other 5 year old I know. Her twin (with cf) weighs 36 pounds. She does not get sick, but when she does, she is out with a pretty barky cough. Both of the other kids have very severe PI. My younger DD tends to be constipated. But, after reading on here, I understand that a lot of kids do not show any signs until they are older.

The problem is, what if her ambry comes back the same as the other two, with one mutation. Then we still won't know, and I think would bother me more. I just can't seem to decide if the information would be useful or frustrating.

 

[Lilliansmom]

We go back to clinic in two weeks, and could use some thoughts on this.

DD (7) and DS (5) have been dx as atypical cf. They both had borderline and negative sweat tests. Both have huge GI issues, some lungissues. DS has had pneumonia multiple times the past 3 years, DD has had it twice a year for the past few years. Both have sinus issues. DD cultured staph when they bronched her last fall. DS had a lung collapse with his latest round of pneumonia in January. Both have clubbing on their fingers.

Both have had the ambry testing done, with one mutation found, but have been given an atypical cf dx because of symptoms. The cf clinic is guessing that their other mutation has not been identified.

So, we always assumed dd (5) was fine. She has not had any of the symptoms that the other two have. She is tiny - very tiny - at 5 1/2 she weighs about 34 pounds, yet eats way more than any other 5 year old I know. Her twin (with cf) weighs 36 pounds. She does not get sick, but when she does, she is out with a pretty barky cough. Both of the other kids have very severe PI. My younger DD tends to be constipated. But, after reading on here, I understand that a lot of kids do not show any signs until they are older.

The problem is, what if her ambry comes back the same as the other two, with one mutation. Then we still won't know, and I think would bother me more. I just can't seem to decide if the information would be useful or frustrating.

 

[Lilliansmom]

We go back to clinic in two weeks, and could use some thoughts on this.
<br />
<br />DD (7) and DS (5) have been dx as atypical cf. They both had borderline and negative sweat tests. Both have huge GI issues, some lungissues. DS has had pneumonia multiple times the past 3 years, DD has had it twice a year for the past few years. Both have sinus issues. DD cultured staph when they bronched her last fall. DS had a lung collapse with his latest round of pneumonia in January. Both have clubbing on their fingers.
<br />
<br />Both have had the ambry testing done, with one mutation found, but have been given an atypical cf dx because of symptoms. The cf clinic is guessing that their other mutation has not been identified.
<br />
<br />So, we always assumed dd (5) was fine. She has not had any of the symptoms that the other two have. She is tiny - very tiny - at 5 1/2 she weighs about 34 pounds, yet eats way more than any other 5 year old I know. Her twin (with cf) weighs 36 pounds. She does not get sick, but when she does, she is out with a pretty barky cough. Both of the other kids have very severe PI. My younger DD tends to be constipated. But, after reading on here, I understand that a lot of kids do not show any signs until they are older.
<br />
<br />The problem is, what if her ambry comes back the same as the other two, with one mutation. Then we still won't know, and I think would bother me more. I just can't seem to decide if the information would be useful or frustrating.

 

[LouLou]

1) When was the Ambry test completed...just in the last few years they've found a few hundred more mutations. Also, not sure if it is standard for them to proceed from CF AMPLIFIEDtm, to Gene Sequence Analysis, Deletion/Duplication Analysis, TG Repeat Analysis but if I were you I would be sure that ALL of these tests were done on the either of the two CRMD diagnosed children.
2) I would sweat test the twin daughter. If she is found to have a borderline sweat test like the others than I would assume the same situation. CRMD presents in different ways just as more classic cf does. For her the biggest challenge may be pancreatitis which is very common in CRMD because often they are PS (unlike your other two kiddos I know).

Sadly, it is my prediction that the two have cf and possibly the 3rd as well. I think the fact that the 2nd gene is unidentified makes it a real question of whether it will be more CRMD or classic cf. Prevention is key. And you are doing the very best you can by searching out diagnoses and care by specialists. You are trend setting in the cf world. Just remember anything you do will only help and prevent damage...it doesn't change their genes. The two cases you described are quite classic - if your doctor is hung up on atypical and isn't arming you with the proper meds and care routines to care for them as typical cfers then go somewhere else after a frank conversation about the realities that these last 2-3 years have been.

 

[LouLou]

1) When was the Ambry test completed...just in the last few years they've found a few hundred more mutations. Also, not sure if it is standard for them to proceed from CF AMPLIFIEDtm, to Gene Sequence Analysis, Deletion/Duplication Analysis, TG Repeat Analysis but if I were you I would be sure that ALL of these tests were done on the either of the two CRMD diagnosed children.
2) I would sweat test the twin daughter. If she is found to have a borderline sweat test like the others than I would assume the same situation. CRMD presents in different ways just as more classic cf does. For her the biggest challenge may be pancreatitis which is very common in CRMD because often they are PS (unlike your other two kiddos I know).

Sadly, it is my prediction that the two have cf and possibly the 3rd as well. I think the fact that the 2nd gene is unidentified makes it a real question of whether it will be more CRMD or classic cf. Prevention is key. And you are doing the very best you can by searching out diagnoses and care by specialists. You are trend setting in the cf world. Just remember anything you do will only help and prevent damage...it doesn't change their genes. The two cases you described are quite classic - if your doctor is hung up on atypical and isn't arming you with the proper meds and care routines to care for them as typical cfers then go somewhere else after a frank conversation about the realities that these last 2-3 years have been.

 

[LouLou]

1) When was the Ambry test completed...just in the last few years they've found a few hundred more mutations. Also, not sure if it is standard for them to proceed from CF AMPLIFIEDtm, to Gene Sequence Analysis, Deletion/Duplication Analysis, TG Repeat Analysis but if I were you I would be sure that ALL of these tests were done on the either of the two CRMD diagnosed children.
<br />2) I would sweat test the twin daughter. If she is found to have a borderline sweat test like the others than I would assume the same situation. CRMD presents in different ways just as more classic cf does. For her the biggest challenge may be pancreatitis which is very common in CRMD because often they are PS (unlike your other two kiddos I know).
<br />
<br />Sadly, it is my prediction that the two have cf and possibly the 3rd as well. I think the fact that the 2nd gene is unidentified makes it a real question of whether it will be more CRMD or classic cf. Prevention is key. And you are doing the very best you can by searching out diagnoses and care by specialists. You are trend setting in the cf world. Just remember anything you do will only help and prevent damage...it doesn't change their genes. The two cases you described are quite classic - if your doctor is hung up on atypical and isn't arming you with the proper meds and care routines to care for them as typical cfers then go somewhere else after a frank conversation about the realities that these last 2-3 years have been.