I dont like how the doctor worded things with a "mutated form of cf". The gene mutations that cause CF are defected which basically means "everyone per say" carries CF genes, but only the ones who carry the "defective" genes that actually cause the illness are considered carriers. Failure to thrive, difficulty gaining weight etc are common symptoms with many of the known gene mutations for CF. Personally I dont think HOW the doctor said it matters. What it comes down to is that your daughter & SIL are known carriers and your grandchild has symptoms indicating she might actually have CF. A sweat test is the usual first step tho since the parents know their gene mutations, I would think it would be safer/more reliable to have your granddaughter tested for these 2 gene mutations. Sweat tests are becoming less reliable or apparently so I should say!
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Mutated form of CF
- Thread starter michellex3
- Start date
It all seems really, really strange. Has genetic testing been conducted? Otherwise, how could the doctor know it's a "mutated" form of CF and know life expectancy? Even knowing the mutations of a cfer, it's hard to predict life expectancy, isn't it? If it sounds like a duck, quacks like a duck.....
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
It all seems really, really strange. Has genetic testing been conducted? Otherwise, how could the doctor know it's a "mutated" form of CF and know life expectancy? Even knowing the mutations of a cfer, it's hard to predict life expectancy, isn't it? If it sounds like a duck, quacks like a duck.....
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
It all seems really, really strange. Has genetic testing been conducted? Otherwise, how could the doctor know it's a "mutated" form of CF and know life expectancy? Even knowing the mutations of a cfer, it's hard to predict life expectancy, isn't it? If it sounds like a duck, quacks like a duck.....
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
IMO, I'd get a second opinion -- preferably from an accreditted CF clinic.
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Ratatosk</b></i>
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Ratatosk</b></i>
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
Emily65Roses
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Ratatosk</b></i>
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
If it sounds like a duck, quacks like a duck.....</end quote></div>
It's a quack! <img src="i/expressions/face-icon-small-happy.gif" border="0">
hopefullmom
New member
Hi, I just saw your post and I know what you guys are going through sometimes it feels like your on a rollercoaster with all the ups and downs before getting diagnosed. My little girl went through the same thing she had a positive sweat test and a negative one, and we had no history of CF in our family. My parents all thought I was over reacting to her having CF because we had no history, but in my heart i new she did. I went and had a blood test to see if I was a carrier because I knew if I was not we were looking in the wrong direction. My test came back positive and then i just knew I was right, they did ambry testing on my daughter and 3wks later we found out she had CF, so I wasn't nuts afterall. HA HA! I suggest you get the genetic testing done and it will ease your mind either way. I thought I would never say this but it was a relief to know what was wrong so we could start treating her. I try to think that really none of us know how long we will live, Maci could always outlive all of my family. CF children are very strongwilled, at least this one is. Good luck and your in my prayers.
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9
hopefullmom
New member
Hi, I just saw your post and I know what you guys are going through sometimes it feels like your on a rollercoaster with all the ups and downs before getting diagnosed. My little girl went through the same thing she had a positive sweat test and a negative one, and we had no history of CF in our family. My parents all thought I was over reacting to her having CF because we had no history, but in my heart i new she did. I went and had a blood test to see if I was a carrier because I knew if I was not we were looking in the wrong direction. My test came back positive and then i just knew I was right, they did ambry testing on my daughter and 3wks later we found out she had CF, so I wasn't nuts afterall. HA HA! I suggest you get the genetic testing done and it will ease your mind either way. I thought I would never say this but it was a relief to know what was wrong so we could start treating her. I try to think that really none of us know how long we will live, Maci could always outlive all of my family. CF children are very strongwilled, at least this one is. Good luck and your in my prayers.
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9
hopefullmom
New member
Hi, I just saw your post and I know what you guys are going through sometimes it feels like your on a rollercoaster with all the ups and downs before getting diagnosed. My little girl went through the same thing she had a positive sweat test and a negative one, and we had no history of CF in our family. My parents all thought I was over reacting to her having CF because we had no history, but in my heart i new she did. I went and had a blood test to see if I was a carrier because I knew if I was not we were looking in the wrong direction. My test came back positive and then i just knew I was right, they did ambry testing on my daughter and 3wks later we found out she had CF, so I wasn't nuts afterall. HA HA! I suggest you get the genetic testing done and it will ease your mind either way. I thought I would never say this but it was a relief to know what was wrong so we could start treating her. I try to think that really none of us know how long we will live, Maci could always outlive all of my family. CF children are very strongwilled, at least this one is. Good luck and your in my prayers.
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9
Christa mom to Maci 4wcf W1282X and Delta F508!
Whitney noCF 16
Blake noCF 9