So which mutation do you have

D

Diane

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>

Hi,



i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?



25, cf, digestive insufficient, lung middle problems</end quote></div>

hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x
 
D

Diane

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>john81john</b></i>

Hi,



i am g551d and r553x, from central europe, g551d should be celtic mutation, r553x german ?



25, cf, digestive insufficient, lung middle problems</end quote></div>

hmmmmm now thats interesting because my dad and his family are from Germany and my grandparents on my moms side were from Europe. and I have the R553x
 
C

ClashPunk82

New member
I have double copies of E60X. My brother has the same as well. I guess it's one of the rarest I'm told. I have crummy lungs, my PFT's are about 12% right now. I am on the TX list and I can't wait to get my new lungs, woo hoo! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
C

ClashPunk82

New member
I have double copies of E60X. My brother has the same as well. I guess it's one of the rarest I'm told. I have crummy lungs, my PFT's are about 12% right now. I am on the TX list and I can't wait to get my new lungs, woo hoo! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
C

ClashPunk82

New member
I have double copies of E60X. My brother has the same as well. I guess it's one of the rarest I'm told. I have crummy lungs, my PFT's are about 12% right now. I am on the TX list and I can't wait to get my new lungs, woo hoo! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
O

Oli

New member
Just joined here. Hello everyone <img src=""> Was diagnosed at 16, now 22.
The mutations i have are Q493X (nt1609c>t), and G551S (nt1783g>a). Both exceedingly rare apparently, one is missense and one is nonsense. None of it means anything to me really, apart from that together give a mild case of CF.
Just had my annual review results. Pancreatic sufficient, liver function fine etc. I'm even fertile <img src=""> Only problems I have is mild lung disease, I grow staph, got rid of the psu really easily, and i suffered from nasal pollyps as a child, and only recently got my sense of smell back lol. My lung function is steady, Im not on many meds, just Azithromycin, and Fluclox for the staph...
My blows are good, at about 98% lung capacity, and 75% FEV

I dont think anyone here will have the same combination as me though as there are so many you can have.
 
O

Oli

New member
Just joined here. Hello everyone <img src=""> Was diagnosed at 16, now 22.
The mutations i have are Q493X (nt1609c>t), and G551S (nt1783g>a). Both exceedingly rare apparently, one is missense and one is nonsense. None of it means anything to me really, apart from that together give a mild case of CF.
Just had my annual review results. Pancreatic sufficient, liver function fine etc. I'm even fertile <img src=""> Only problems I have is mild lung disease, I grow staph, got rid of the psu really easily, and i suffered from nasal pollyps as a child, and only recently got my sense of smell back lol. My lung function is steady, Im not on many meds, just Azithromycin, and Fluclox for the staph...
My blows are good, at about 98% lung capacity, and 75% FEV

I dont think anyone here will have the same combination as me though as there are so many you can have.
 
O

Oli

New member
Just joined here. Hello everyone <img src=""> Was diagnosed at 16, now 22.
The mutations i have are Q493X (nt1609c>t), and G551S (nt1783g>a). Both exceedingly rare apparently, one is missense and one is nonsense. None of it means anything to me really, apart from that together give a mild case of CF.
Just had my annual review results. Pancreatic sufficient, liver function fine etc. I'm even fertile <img src=""> Only problems I have is mild lung disease, I grow staph, got rid of the psu really easily, and i suffered from nasal pollyps as a child, and only recently got my sense of smell back lol. My lung function is steady, Im not on many meds, just Azithromycin, and Fluclox for the staph...
My blows are good, at about 98% lung capacity, and 75% FEV

I dont think anyone here will have the same combination as me though as there are so many you can have.
 
S

stoogesmom

New member
My boys are all df508 and a455e. They are pancreas sufficient, with little or no lung involvement. Recently diagnosed in teens.
 
S

stoogesmom

New member
My boys are all df508 and a455e. They are pancreas sufficient, with little or no lung involvement. Recently diagnosed in teens.
 
S

stoogesmom

New member
My boys are all df508 and a455e. They are pancreas sufficient, with little or no lung involvement. Recently diagnosed in teens.
 
A

anonymous

New member
See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
A

anonymous

New member
See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
A

anonymous

New member
See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
P

point

New member
Sorry that was me (point). I am not used to posting without being prompted for my username. See below for my mutations.....

See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
P

point

New member
Sorry that was me (point). I am not used to posting without being prompted for my username. See below for my mutations.....

See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
P

point

New member
Sorry that was me (point). I am not used to posting without being prompted for my username. See below for my mutations.....

See below within my signature for mutations. My bros' have CF as well.

We were dx young. My oldest bro at age 3, middle bros. 1.5, myself asap after birth. So, basically all at the same time. My middle bros was dx first due to survival to thrive. He also had meconium at birth.

We all have stomach issues, but all of our weights are within normal BMI (Or upper end of BMI). None of us are diabetic. My bro's liver enzymes have been slightly off at times. We all have good bone density levels. We are all basically in our 30's (I'm the youngest). One of us is regularly taking Pulmozyme/ Tobi. The other two of us use hypertonic saline. We grew up doing regular PT. Now we do it intermittenly. We all have pretty good PFT's. Mine are above 100%, my bros are between 65 to 85%. We just started to develop lung involvement over the past few years where we've seen a small decline in PFT's which could also be due to just the aging process for my oldest bro.
 
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