not what the dr ordered

W

worriedmom

Guest
I've posted on this site only more than a couple of times. I had a few suggestions to demand the genetic testing for Cf for our 3 year old little girl who has had pneumonia, RSV, 7 lb. weight loss(she gined back 2lbs...yeah!), greasy mucousy, watery discolored stools belly pain, back pain, gallstones amongst a few. We had a visit to her GI doc and I told him I wanted her to be tested for the blood workup for CF. She had a sweat test done and it was a 32 but I was only told they collected 86 grams of sweat and my girlfriend who works in the lab said they need 150 grams for an accurate test. I don't know if this is true or not. But I told him if he didn't order the test I was going elsewhere and I would consult our family attorney and he ordered the test but not Ambry. We went today for the CF genotype screening. When I told him that wasn't the one I wanted he said to start with that. He is referring her to a Children's hospital in a nearby city for other GI issues he wants her to be evaluated for that he feels require a second opinion and told me to ask them for the one I want. This is all so frustrating! I guess my question is how many genes does this test she had look for? If anyone knows? I feel so badly for her having to keep getting "stuck", poked and prodded. It has just been a real rough 6 months.
Thanks,
Melissa
 
W

worriedmom

Guest
I've posted on this site only more than a couple of times. I had a few suggestions to demand the genetic testing for Cf for our 3 year old little girl who has had pneumonia, RSV, 7 lb. weight loss(she gined back 2lbs...yeah!), greasy mucousy, watery discolored stools belly pain, back pain, gallstones amongst a few. We had a visit to her GI doc and I told him I wanted her to be tested for the blood workup for CF. She had a sweat test done and it was a 32 but I was only told they collected 86 grams of sweat and my girlfriend who works in the lab said they need 150 grams for an accurate test. I don't know if this is true or not. But I told him if he didn't order the test I was going elsewhere and I would consult our family attorney and he ordered the test but not Ambry. We went today for the CF genotype screening. When I told him that wasn't the one I wanted he said to start with that. He is referring her to a Children's hospital in a nearby city for other GI issues he wants her to be evaluated for that he feels require a second opinion and told me to ask them for the one I want. This is all so frustrating! I guess my question is how many genes does this test she had look for? If anyone knows? I feel so badly for her having to keep getting "stuck", poked and prodded. It has just been a real rough 6 months.
Thanks,
Melissa
 
W

worriedmom

Guest
I've posted on this site only more than a couple of times. I had a few suggestions to demand the genetic testing for Cf for our 3 year old little girl who has had pneumonia, RSV, 7 lb. weight loss(she gined back 2lbs...yeah!), greasy mucousy, watery discolored stools belly pain, back pain, gallstones amongst a few. We had a visit to her GI doc and I told him I wanted her to be tested for the blood workup for CF. She had a sweat test done and it was a 32 but I was only told they collected 86 grams of sweat and my girlfriend who works in the lab said they need 150 grams for an accurate test. I don't know if this is true or not. But I told him if he didn't order the test I was going elsewhere and I would consult our family attorney and he ordered the test but not Ambry. We went today for the CF genotype screening. When I told him that wasn't the one I wanted he said to start with that. He is referring her to a Children's hospital in a nearby city for other GI issues he wants her to be evaluated for that he feels require a second opinion and told me to ask them for the one I want. This is all so frustrating! I guess my question is how many genes does this test she had look for? If anyone knows? I feel so badly for her having to keep getting "stuck", poked and prodded. It has just been a real rough 6 months.
Thanks,
Melissa
 
W

worriedmom

Guest
I've posted on this site only more than a couple of times. I had a few suggestions to demand the genetic testing for Cf for our 3 year old little girl who has had pneumonia, RSV, 7 lb. weight loss(she gined back 2lbs...yeah!), greasy mucousy, watery discolored stools belly pain, back pain, gallstones amongst a few. We had a visit to her GI doc and I told him I wanted her to be tested for the blood workup for CF. She had a sweat test done and it was a 32 but I was only told they collected 86 grams of sweat and my girlfriend who works in the lab said they need 150 grams for an accurate test. I don't know if this is true or not. But I told him if he didn't order the test I was going elsewhere and I would consult our family attorney and he ordered the test but not Ambry. We went today for the CF genotype screening. When I told him that wasn't the one I wanted he said to start with that. He is referring her to a Children's hospital in a nearby city for other GI issues he wants her to be evaluated for that he feels require a second opinion and told me to ask them for the one I want. This is all so frustrating! I guess my question is how many genes does this test she had look for? If anyone knows? I feel so badly for her having to keep getting "stuck", poked and prodded. It has just been a real rough 6 months.
Thanks,
Melissa
 
W

worriedmom

Guest
I've posted on this site only more than a couple of times. I had a few suggestions to demand the genetic testing for Cf for our 3 year old little girl who has had pneumonia, RSV, 7 lb. weight loss(she gined back 2lbs...yeah!), greasy mucousy, watery discolored stools belly pain, back pain, gallstones amongst a few. We had a visit to her GI doc and I told him I wanted her to be tested for the blood workup for CF. She had a sweat test done and it was a 32 but I was only told they collected 86 grams of sweat and my girlfriend who works in the lab said they need 150 grams for an accurate test. I don't know if this is true or not. But I told him if he didn't order the test I was going elsewhere and I would consult our family attorney and he ordered the test but not Ambry. We went today for the CF genotype screening. When I told him that wasn't the one I wanted he said to start with that. He is referring her to a Children's hospital in a nearby city for other GI issues he wants her to be evaluated for that he feels require a second opinion and told me to ask them for the one I want. This is all so frustrating! I guess my question is how many genes does this test she had look for? If anyone knows? I feel so badly for her having to keep getting "stuck", poked and prodded. It has just been a real rough 6 months.
Thanks,
Melissa
 
D

dyza

New member
I think the test may only cover about between 30 and 40 mutations, I do hope its more, it is for the most common mutations.
I like that you told the doctor what you wanted, keep at the doctor,
good luck
Craig
 
D

dyza

New member
I think the test may only cover about between 30 and 40 mutations, I do hope its more, it is for the most common mutations.
I like that you told the doctor what you wanted, keep at the doctor,
good luck
Craig
 
D

dyza

New member
I think the test may only cover about between 30 and 40 mutations, I do hope its more, it is for the most common mutations.
I like that you told the doctor what you wanted, keep at the doctor,
good luck
Craig
 
D

dyza

New member
I think the test may only cover about between 30 and 40 mutations, I do hope its more, it is for the most common mutations.
I like that you told the doctor what you wanted, keep at the doctor,
good luck
Craig
 
D

dyza

New member
I think the test may only cover about between 30 and 40 mutations, I do hope its more, it is for the most common mutations.
I like that you told the doctor what you wanted, keep at the doctor,
good luck
Craig
 
M

Mommafirst

Guest
The screening we did looked at 30 mutations, and then when they picked up one of my daughter's mutations, we ran the Ambry. I know its frustrating, but i think it has to do with insurance costs that they run the smaller screens first. Just keep pushing, you are doing great. I hope you get some answers sooner, rather than later!!!!
 
M

Mommafirst

Guest
The screening we did looked at 30 mutations, and then when they picked up one of my daughter's mutations, we ran the Ambry. I know its frustrating, but i think it has to do with insurance costs that they run the smaller screens first. Just keep pushing, you are doing great. I hope you get some answers sooner, rather than later!!!!
 
M

Mommafirst

Guest
The screening we did looked at 30 mutations, and then when they picked up one of my daughter's mutations, we ran the Ambry. I know its frustrating, but i think it has to do with insurance costs that they run the smaller screens first. Just keep pushing, you are doing great. I hope you get some answers sooner, rather than later!!!!
 
M

Mommafirst

Guest
The screening we did looked at 30 mutations, and then when they picked up one of my daughter's mutations, we ran the Ambry. I know its frustrating, but i think it has to do with insurance costs that they run the smaller screens first. Just keep pushing, you are doing great. I hope you get some answers sooner, rather than later!!!!
 
M

Mommafirst

Guest
The screening we did looked at 30 mutations, and then when they picked up one of my daughter's mutations, we ran the Ambry. I know its frustrating, but i think it has to do with insurance costs that they run the smaller screens first. Just keep pushing, you are doing great. I hope you get some answers sooner, rather than later!!!!
 
T

thefrogprincess

New member
First, I applaud you for going after the docs and demanding what you want!

When DH and I started talking about kids I told him to ask his doc for an Ambry test. Of course that's not what they did, they only tested for 30 mutations. Which left a 9% chance of him having a mutation that wasn't tested for. That was not good enough for me. We then went to a geneticist and I pretty much twisted his arm into doing the Ambry test. He wasn't going to do it and I told him that if he didn't then he would have to deal with me until I got what I wanted. He did the test.
 
T

thefrogprincess

New member
First, I applaud you for going after the docs and demanding what you want!

When DH and I started talking about kids I told him to ask his doc for an Ambry test. Of course that's not what they did, they only tested for 30 mutations. Which left a 9% chance of him having a mutation that wasn't tested for. That was not good enough for me. We then went to a geneticist and I pretty much twisted his arm into doing the Ambry test. He wasn't going to do it and I told him that if he didn't then he would have to deal with me until I got what I wanted. He did the test.
 
T

thefrogprincess

New member
First, I applaud you for going after the docs and demanding what you want!

When DH and I started talking about kids I told him to ask his doc for an Ambry test. Of course that's not what they did, they only tested for 30 mutations. Which left a 9% chance of him having a mutation that wasn't tested for. That was not good enough for me. We then went to a geneticist and I pretty much twisted his arm into doing the Ambry test. He wasn't going to do it and I told him that if he didn't then he would have to deal with me until I got what I wanted. He did the test.
 
T

thefrogprincess

New member
First, I applaud you for going after the docs and demanding what you want!

When DH and I started talking about kids I told him to ask his doc for an Ambry test. Of course that's not what they did, they only tested for 30 mutations. Which left a 9% chance of him having a mutation that wasn't tested for. That was not good enough for me. We then went to a geneticist and I pretty much twisted his arm into doing the Ambry test. He wasn't going to do it and I told him that if he didn't then he would have to deal with me until I got what I wanted. He did the test.
 
T

thefrogprincess

New member
First, I applaud you for going after the docs and demanding what you want!

When DH and I started talking about kids I told him to ask his doc for an Ambry test. Of course that's not what they did, they only tested for 30 mutations. Which left a 9% chance of him having a mutation that wasn't tested for. That was not good enough for me. We then went to a geneticist and I pretty much twisted his arm into doing the Ambry test. He wasn't going to do it and I told him that if he didn't then he would have to deal with me until I got what I wanted. He did the test.
 
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