Anyone have the DF508 and G551D Mutations?

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JENNIFERA

New member
Hi. I am preganant as well and my daughter has inherited the DeltaF508 which she gets from me (the mom) and one that is not very common from my husband. Jen, I know how scared you must be I have been going through all the testing for a month now and we just found out our daughter has CF. I wish like you and probably others they were able to tell the severity of each geen and what problems that gene brings. I know talking to a few people that everyone that inherits CF can have different symptoms. Just keep thinking positive. I am going through this as well so I can really relate. The only difference is that my husband and I are the only ones that have ever been tested for this and our daughter is the only person that has ever had CF so up until I found this site we were completely lost and clueless so we had no idea what to do or even where to start. If you ever want to talk i'm here.

Jennifer
 
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Dea

New member
It is funny because they say the Double Delta F508 is rare...but on this site and another...I have met alot of people with it. I am one...along with my brother. Both of us have mild lung disease...my lung function is about 70%. I have terrible sinus problems...have had 6 sinus surgeries..and still really no help. I also developed CFRD about 6 1/2 years ago. I also have CF related arthritis that is becoming very annoying <img src="i/expressions/face-icon-small-confused.gif" border="0"> As I become older, I'm having more digestive probs as well. My brother doesnt have the sinus probs that I have. Overall, he is in better condition than I am and I take better care of myself. So...this again proves that 2 people with the same mutations can have different severities. I think that is why that it is such a confusing disease...and hard for people to understand it. I will be 32 this year...and he will turn 25. Take Care!
Dea
 
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LouLou

New member
I have DF508 and G551D. Mild pancreatic insufficiency (treated with Ultrase MT20) and moderate lung disease (60-70% PFTs) I was 100% until 16 yrs. of age. I'd love to hear anyone's story with these two specific mutations and also if you have done any research on them what you have learned. Still curious even though I know it's not a predictor of my own health, right?
 
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LouLou

New member
I have DF508 and G551D. Mild pancreatic insufficiency (treated with Ultrase MT20) and moderate lung disease (60-70% PFTs) I was 100% until 16 yrs. of age. I'd love to hear anyone's story with these two specific mutations and also if you have done any research on them what you have learned. Still curious even though I know it's not a predictor of my own health, right?
 
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anonymous

New member
Hi I dont have those mutations but I do have G542X (I think thats right) and I think that I m pretty mild, dont have have too many problems with the pancreas or lungs, just some discomfort sometimes. Both of my mutations are the same by the way.

Jennifer (PrincessJDC)

Live, Love and Learn
 
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anonymous

New member
Hi I dont have those mutations but I do have G542X (I think thats right) and I think that I m pretty mild, dont have have too many problems with the pancreas or lungs, just some discomfort sometimes. Both of my mutations are the same by the way.

Jennifer (PrincessJDC)

Live, Love and Learn
 
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cdale613

New member
Hey Lauren, (and mom-to-be)

My mutations are DF508 and G551D -- I also have mild pancreatic insufficiency and mild lung disease. My PFT baseline is in the 90's, I go for cleanouts when it dips below 80. To date, I've only had 1 clean out - clean out #2 starts next week :-/ .

I am obsessively compliant with my treatment regiment, however, I also work very hard to integrate my treatments and CF into my "normal" life.

Lauren - I'd be happy to share my opinions, etc. -- feel free to PM me.


Chris

25 w/ CF
 
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cdale613

New member
Hey Lauren, (and mom-to-be)

My mutations are DF508 and G551D -- I also have mild pancreatic insufficiency and mild lung disease. My PFT baseline is in the 90's, I go for cleanouts when it dips below 80. To date, I've only had 1 clean out - clean out #2 starts next week :-/ .

I am obsessively compliant with my treatment regiment, however, I also work very hard to integrate my treatments and CF into my "normal" life.

Lauren - I'd be happy to share my opinions, etc. -- feel free to PM me.


Chris

25 w/ CF
 
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coltsfan715

New member
Hi there
Both of the genes I have are delta F508. I don't know how rare they are - I have been told that is the most common mutation, but I don't know. My lung function has stuck around 40-50% the last few years. I am 23 - diagnosed with CF at 1 yo. I have CF Related Diabetes- I was diagnosed with that at 17yo. I am doing pretty good I think. I guess by lung function I am below average a bit, but I still manage to do most everything I have always done sometimes it just takes me a little longer or makes me a little more short of breath but nothing that makes me uncomfy. Other than surgeries (wisdom teeth removal and gallbladder removal) where I needed the assistance I have never been on Oxygen, I go in the hospital at least once a year. Somewhere between every 9-13 months usually.

Good Luck with the testing. I hope you are fortuate enough NOT to have your child have CF. Best Wishes to you - you are in my thoughts.

Lindsey
 
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coltsfan715

New member
Hi there
Both of the genes I have are delta F508. I don't know how rare they are - I have been told that is the most common mutation, but I don't know. My lung function has stuck around 40-50% the last few years. I am 23 - diagnosed with CF at 1 yo. I have CF Related Diabetes- I was diagnosed with that at 17yo. I am doing pretty good I think. I guess by lung function I am below average a bit, but I still manage to do most everything I have always done sometimes it just takes me a little longer or makes me a little more short of breath but nothing that makes me uncomfy. Other than surgeries (wisdom teeth removal and gallbladder removal) where I needed the assistance I have never been on Oxygen, I go in the hospital at least once a year. Somewhere between every 9-13 months usually.

Good Luck with the testing. I hope you are fortuate enough NOT to have your child have CF. Best Wishes to you - you are in my thoughts.

Lindsey
 
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Emily65Roses

New member
Just FYI, DeltaF508 is indeed the single most common CF mutation. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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Emily65Roses

New member
Just FYI, DeltaF508 is indeed the single most common CF mutation. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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Emily65Roses

New member
Next to any post someone has put, there's a little lock button. If you click that, it allows you to PM that person. It's in the upper righthand corner.
 
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Emily65Roses

New member
Next to any post someone has put, there's a little lock button. If you click that, it allows you to PM that person. It's in the upper righthand corner.
 
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anonymous

New member
If a person has shared their "user profile" with everyone, you click on that, and can send them an email if they have shared their email address with everyone.

The user profile icon is the magnifying glass... it should be in the top right hand corner next to the light bulb.
 
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anonymous

New member
If a person has shared their "user profile" with everyone, you click on that, and can send them an email if they have shared their email address with everyone.

The user profile icon is the magnifying glass... it should be in the top right hand corner next to the light bulb.
 
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