Two benign mutations

[auntcob]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain.

 

[auntcob]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain.

 

[auntcob]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain.

 

[auntcob]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain.

 

[auntcob]

Hi all. We received the results of our 14 year olds full genetic sequencing panel earlier today. He had an inconclusive sweat test. His results show he has what the CF center called 2 benign mutations--t854t and q1463q. The nurse said that as far as they were concerned he did not have CF. And, that benign meant that these mutations should not show symptoms. All of his testing has been done through the children's hospital of phil.
<br />Any advice/input would be appreciated. He is still not well and has been sick since august. He started with chronic and pervasive diarrhea (8-10 times every day). His entire GI tract has been scanned, scoped, and biposied--only significant result was that when his small intestine was biopsied, he was not producing enough lactase. History of asthma and some other odd medical problems. He has no appetite, lost 15 lbs, and can't seem to gain.

 

[sdelorenzo]

I posted your question under "Welcome Ambry Genetics." Check back there to see what Steve has to say.
Sharon

 

[sdelorenzo]

I posted your question under "Welcome Ambry Genetics." Check back there to see what Steve has to say.
Sharon

 

[sdelorenzo]

I posted your question under "Welcome Ambry Genetics." Check back there to see what Steve has to say.
Sharon

 

[sdelorenzo]

I posted your question under "Welcome Ambry Genetics." Check back there to see what Steve has to say.
Sharon

 

[sdelorenzo]

I posted your question under "Welcome Ambry Genetics." Check back there to see what Steve has to say.
<br />Sharon

 

[Ratatosk]

Did they put him on digestive enzymes for his intestinal issues? If he's not producting enought lactase...

 

[Ratatosk]

Did they put him on digestive enzymes for his intestinal issues? If he's not producting enought lactase...

 

[Ratatosk]

Did they put him on digestive enzymes for his intestinal issues? If he's not producting enought lactase...

 

[Ratatosk]

Did they put him on digestive enzymes for his intestinal issues? If he's not producting enought lactase...

 

[Ratatosk]

Did they put him on digestive enzymes for his intestinal issues? If he's not producting enought lactase...

 

[hmw]

I am very disturbed, frankly, by this... because of where CHOP is coming from when it comes to their mutations testing in the first place. When you asked about their testing earlier, someone with experience at CHOP replied in this way:
<div class="FTQUOTE"><begin quote>CHOP used to use Ambry. They now use Genzyme and will test for 1000+ but I believe it's only if they don't first find 2 mutations in one of the more common panel tests. On the Genzyme form they can check to continue testing further if one or none mutations are found.

When I asked why they no longer used Ambry. <i>I got an answer to the effect of that Ambry was finding mutations in lots of people and they didn't know what to tell all these mildly or symptomless effected folks.</i></end quote></div>
OK, this bothers me if this is in fact true. This would indicate they are going into caring for people not wanting to know all the facts, first of all. The only true way to determine long-term significance of these questionable mutations is to continue gathering information about them. Pretending they don't exist is a step backwards!

So given this strange mindset in place of not even wanting to thoroughly test people for all mutations, having this attitude of now assuming your child's mutations are benign despite his having the symptoms he does bothers me, since it's obvious your son has a lot going on that needs to be explained.

When you tell us your son's sweat test result was inconclusive, do you mean 'borderline'? What was the actual result? Negative is below 40, borderline is 40-60, and positive for CF is 60+.

I'm so sorry you are going through this with your son! I hope you get more answers soon (even if that means getting another opinion from another cf center.)

 

[hmw]

I am very disturbed, frankly, by this... because of where CHOP is coming from when it comes to their mutations testing in the first place. When you asked about their testing earlier, someone with experience at CHOP replied in this way:
<div class="FTQUOTE"><begin quote>CHOP used to use Ambry. They now use Genzyme and will test for 1000+ but I believe it's only if they don't first find 2 mutations in one of the more common panel tests. On the Genzyme form they can check to continue testing further if one or none mutations are found.

When I asked why they no longer used Ambry. <i>I got an answer to the effect of that Ambry was finding mutations in lots of people and they didn't know what to tell all these mildly or symptomless effected folks.</i></end quote></div>
OK, this bothers me if this is in fact true. This would indicate they are going into caring for people not wanting to know all the facts, first of all. The only true way to determine long-term significance of these questionable mutations is to continue gathering information about them. Pretending they don't exist is a step backwards!

So given this strange mindset in place of not even wanting to thoroughly test people for all mutations, having this attitude of now assuming your child's mutations are benign despite his having the symptoms he does bothers me, since it's obvious your son has a lot going on that needs to be explained.

When you tell us your son's sweat test result was inconclusive, do you mean 'borderline'? What was the actual result? Negative is below 40, borderline is 40-60, and positive for CF is 60+.

I'm so sorry you are going through this with your son! I hope you get more answers soon (even if that means getting another opinion from another cf center.)

 

[hmw]

I am very disturbed, frankly, by this... because of where CHOP is coming from when it comes to their mutations testing in the first place. When you asked about their testing earlier, someone with experience at CHOP replied in this way:
<div class="FTQUOTE"><begin quote>CHOP used to use Ambry. They now use Genzyme and will test for 1000+ but I believe it's only if they don't first find 2 mutations in one of the more common panel tests. On the Genzyme form they can check to continue testing further if one or none mutations are found.

When I asked why they no longer used Ambry. <i>I got an answer to the effect of that Ambry was finding mutations in lots of people and they didn't know what to tell all these mildly or symptomless effected folks.</i></end quote></div>
OK, this bothers me if this is in fact true. This would indicate they are going into caring for people not wanting to know all the facts, first of all. The only true way to determine long-term significance of these questionable mutations is to continue gathering information about them. Pretending they don't exist is a step backwards!

So given this strange mindset in place of not even wanting to thoroughly test people for all mutations, having this attitude of now assuming your child's mutations are benign despite his having the symptoms he does bothers me, since it's obvious your son has a lot going on that needs to be explained.

When you tell us your son's sweat test result was inconclusive, do you mean 'borderline'? What was the actual result? Negative is below 40, borderline is 40-60, and positive for CF is 60+.

I'm so sorry you are going through this with your son! I hope you get more answers soon (even if that means getting another opinion from another cf center.)

 

[hmw]

I am very disturbed, frankly, by this... because of where CHOP is coming from when it comes to their mutations testing in the first place. When you asked about their testing earlier, someone with experience at CHOP replied in this way:
<div class="FTQUOTE"><begin quote>CHOP used to use Ambry. They now use Genzyme and will test for 1000+ but I believe it's only if they don't first find 2 mutations in one of the more common panel tests. On the Genzyme form they can check to continue testing further if one or none mutations are found.

When I asked why they no longer used Ambry. <i>I got an answer to the effect of that Ambry was finding mutations in lots of people and they didn't know what to tell all these mildly or symptomless effected folks.</i></end quote>
OK, this bothers me if this is in fact true. This would indicate they are going into caring for people not wanting to know all the facts, first of all. The only true way to determine long-term significance of these questionable mutations is to continue gathering information about them. Pretending they don't exist is a step backwards!

So given this strange mindset in place of not even wanting to thoroughly test people for all mutations, having this attitude of now assuming your child's mutations are benign despite his having the symptoms he does bothers me, since it's obvious your son has a lot going on that needs to be explained.

When you tell us your son's sweat test result was inconclusive, do you mean 'borderline'? What was the actual result? Negative is below 40, borderline is 40-60, and positive for CF is 60+.

I'm so sorry you are going through this with your son! I hope you get more answers soon (even if that means getting another opinion from another cf center.)

 

[hmw]

I am very disturbed, frankly, by this... because of where CHOP is coming from when it comes to their mutations testing in the first place. When you asked about their testing earlier, someone with experience at CHOP replied in this way:
<br /><div class="FTQUOTE"><begin quote>CHOP used to use Ambry. They now use Genzyme and will test for 1000+ but I believe it's only if they don't first find 2 mutations in one of the more common panel tests. On the Genzyme form they can check to continue testing further if one or none mutations are found.
<br />
<br />When I asked why they no longer used Ambry. <i>I got an answer to the effect of that Ambry was finding mutations in lots of people and they didn't know what to tell all these mildly or symptomless effected folks.</i></end quote>
<br />OK, this bothers me if this is in fact true. This would indicate they are going into caring for people not wanting to know all the facts, first of all. The only true way to determine long-term significance of these questionable mutations is to continue gathering information about them. Pretending they don't exist is a step backwards!
<br />
<br />So given this strange mindset in place of not even wanting to thoroughly test people for all mutations, having this attitude of now assuming your child's mutations are benign despite his having the symptoms he does bothers me, since it's obvious your son has a lot going on that needs to be explained.
<br />
<br />When you tell us your son's sweat test result was inconclusive, do you mean 'borderline'? What was the actual result? Negative is below 40, borderline is 40-60, and positive for CF is 60+.
<br />
<br />I'm so sorry you are going through this with your son! I hope you get more answers soon (even if that means getting another opinion from another cf center.)