Very Frustrated and need to vent

D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
D

domsmom

Guest
I am really just extremely frustrated and angry. When Dominic's DNA analysis was ordered the slip definetly said Ambry Amplified w/ Deletion/Duplication, however it went to Genzyme where only a 97 mutation analysis was done. Thankfully, I guess it was negative. Now the are running a complete sequencing and we will have to wait another 4 weeks.

I am told that they don't send any testin to Ambry anymore just to Genzyme. Is their test just as good? No one at the Dr's. office can answer me. I ask ? and they say well we want to wait and see. If he has CF shouldn't they be being pro-active? And the nurse although very sweet is VERY new and said to me I probably know more than her. I asked if sequencing came back negative what was next, her answer was there is one more test that is only done in Boston, but wouldn't tell me what it was because she didn'y know much about it and didn't want to confuse me or give innaccurated info. I just wish they would say more!
Thanks for letting me ramble

Jenn
Mother of Dominic 4- possible CF
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
A

Alyssa

New member
I don't know anything about Genzyme - perhaps you could pose that question to the Ambry guy on the website here -- I know it would probably be strange to ask him since it would be a "competitor" in business, but I'd bet he would know what to look out for/ask about should there be any problems with your testing being done there.

Claudette is probably right in guessing the "other" test in Boston being the nasal differential test. They shouldn't be recommending that until all genetic testing options have run out -- in other words testing for all 1500 genes, not only 97! So be sure and be pushy about that.

The other bit of info I can offer is if you do eventually discuss the nasal differential testing for you son, be aware that they may not recommend it until he is older as it is not very pleasant. They insert a small needle in the arm (kind of like a shot or IV only a very small needle size and it does need to stay there, then small tubes and electrodes are inserted into the nostril/nasal passage. The tubes deliver a constant drip of saline and the electrodes measure whatever it is they measure. None of these things are really painful, but defiantly uncomfortable and annoying. I think it takes about 20 minutes or so to administer too, so he would have to sit still while saline dripped out of his nose ! Not fun I'm sure.

Hang in there, you are doing great - it is all terribly frustrating and it is amazing how much mothers learn on their own. I just recently moved and had to start treatment for my son at a new clinic - the information I provided to the new doctor prior to our first meeting prompted him to ask me if I was a nurse.
 
O

okok

New member
if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.
 
O

okok

New member
if genzyme does complete CFTR sequencing (including exon/intron junctions. not even ambry sequences full introns) and deletion/duplication testing then it is just as good as ambry. I was under the impression that only ambry or quest diagnostics offered these tests. Are you sure that they didn't send you child's DNA to ambry once the genzyme results came back negative??? It is extremely common for many people to only order sequncing from ambry (or quest) AFTER cheaper panels (such as the 97 panel) have turned up as negative. maybe they meant they don't ever start out with ambry testing anymore just genzyme...??

Sequencing should be good test even if from genezyme....assuming they sequence the full CFTR. If sequencing also turns up negative you will want the deltion/duplication testing.

Anyway good luck. I know this is so difficult.
 
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