So the seq analysis on my 2 month old daughter did not find a second gene mutation and the 97 gene mutation on the carrier testing did not return any genetic markers of cf on me. The gene mutation she does have is the deltaf508. They still want another sweat test, although I don't know what to expect from that they gave her four weeks to get bigger... and gain somemore weight to ensure getting a large enough sweat sample(s)so I doubt that getting bigger or sweating more is likely to affect the sweat test result much as far as the amount of chloride in it. So we go for a third sweat test July 29th 2010, @ 10 am. We are not fully out of the woods yet. Thanks for all the info and support
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- Thread starter mlag2010
- Start date
So the seq analysis on my 2 month old daughter did not find a second gene mutation and the 97 gene mutation on the carrier testing did not return any genetic markers of cf on me. The gene mutation she does have is the deltaf508. They still want another sweat test, although I don't know what to expect from that they gave her four weeks to get bigger... and gain somemore weight to ensure getting a large enough sweat sample(s)so I doubt that getting bigger or sweating more is likely to affect the sweat test result much as far as the amount of chloride in it. So we go for a third sweat test July 29th 2010, @ 10 am. We are not fully out of the woods yet. Thanks for all the info and support
So the seq analysis on my 2 month old daughter did not find a second gene mutation and the 97 gene mutation on the carrier testing did not return any genetic markers of cf on me. The gene mutation she does have is the deltaf508. They still want another sweat test, although I don't know what to expect from that they gave her four weeks to get bigger... and gain somemore weight to ensure getting a large enough sweat sample(s)so I doubt that getting bigger or sweating more is likely to affect the sweat test result much as far as the amount of chloride in it. So we go for a third sweat test July 29th 2010, @ 10 am. We are not fully out of the woods yet. Thanks for all the info and support
mariahsmommy
New member
Did you do the Ambry genetic testing?
Are you saying that she has only one mutation DDf508, making her only a carrier?
My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
They should be able by now at 2 months to get an accurate sweat test result.
Are you saying that she has only one mutation DDf508, making her only a carrier?
My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
They should be able by now at 2 months to get an accurate sweat test result.
mariahsmommy
New member
Did you do the Ambry genetic testing?
Are you saying that she has only one mutation DDf508, making her only a carrier?
My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
They should be able by now at 2 months to get an accurate sweat test result.
Are you saying that she has only one mutation DDf508, making her only a carrier?
My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
They should be able by now at 2 months to get an accurate sweat test result.
mariahsmommy
New member
Did you do the Ambry genetic testing?
<br />Are you saying that she has only one mutation DDf508, making her only a carrier?
<br />
<br />My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
<br />They should be able by now at 2 months to get an accurate sweat test result.
<br />Are you saying that she has only one mutation DDf508, making her only a carrier?
<br />
<br />My daughter was only 2 weeks old when they performed her sweat test. They did two and both of them where abnormally high and this is what determined she had CF. The genetic test, newborn screening, and meconium ileus confirmed it.
<br />They should be able by now at 2 months to get an accurate sweat test result.
M
Mommafirst
Guest
So sorry you are continuing on this merry go round -- I'm sure you are sooo frustrated. Hang in there and let us know.
M
Mommafirst
Guest
So sorry you are continuing on this merry go round -- I'm sure you are sooo frustrated. Hang in there and let us know.
M
Mommafirst
Guest
So sorry you are continuing on this merry go round -- I'm sure you are sooo frustrated. Hang in there and let us know.
mariahsmommy,
her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG
her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG
mariahsmommy,
her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG
her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG
mariahsmommy,
<br />
<br /> her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
<br />Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG
<br />
<br /> her first sweat test results came back 31 and 35... her second test came back qns.. so we go back this week thursday at 10 am, for a third. if the results are over thirty they will send us to the cf clinic and let them decide how to proceed. She was about a month old or a little less when she came back at 31 and 35... so it would seem unlikely to me anyway that she will come back lower than that.
<br />Yes still on the merry go round don't know what to think... her poop still stinks like dog poop, now been diagnosed with reflux and put on zantac..thank God. she advocated well for her self she soaked the exam table at the ped. on this past friday. Ugh I just hope they make a decision, I am kinda wanting them to follow her...just based on all the issues we've had..esp with digestion, and now reflux. Hanging in there. MLAG