Can your gene mutation define your symptoms or severity of symptoms?

[anonymous]

Hi,
I was wondering if you can tell what symptoms and the future severity of symptoms is going to be by your gene mutations? My daughter has deltaF508 or delta F408 (I cannot remember) whichever one it is is the most common one. So far she has only digestive issues, growth issues and upper respiratory issues(runny nose, ear infections) No lung problems. Is this how it will be forever? Does your gene mutation define how sick you are going to be? I have asked my DR this question and he always avoids answering it. If you know anything about this please reply.
Thanks,
Lynsey -mom of Avery 21 mos. w/CF and Rhett 3 mos. carrier of CF

 

[Dea]

Hi Lynsey,
The delta F508 is the most common mutation. Usually this mutation does affect digestive and respiratory as well. Unfortunately, there is no way to tell the severity of the disease by the mutation-2 different people can have the same mutations...but the severity can be totally opposite each other. I have 2 delta F508s and have both digestive and lung problems. As an infant my lungs were bad and not many digestive...now my lungs are ok (not great...but ok) and I have many digestive issues. I have CF related diabetes as well..and CF related arthritis. So the mutations do not control the severity. It is just something that can't be known. Good Luck and Take care!
Dea
31 w/CF

 

[anonymous]

I have deltaF508 and have only lung problems, with no sinus,or digestive problems. I don't think they know if a certain mutation will give you certain problems. Maybe thats why your doc seems to avoid it-because he really doesn't know..

Shamrock

 

[anonymous]

Lynsey,
my hubbie is a double Delta F508. When he was younger he was quite the sick guy (not sure if that had to do with his body, or the fact that there weren't a lot of treatments for CF back in the early 80's) but as a pre-teen, and after his rebellious teenage stage, he was/has been/is very healthy. He has a little lung involvement, lung functions are at about 85% although he gets frequent lung infections (never requiring IV antibiotics though)-his doctor is stumpped as to why his Lung functions are still so good. He also has digestive issues, he has been on enzymes since he was diagnosed (at 18 mos) and he eats about 5500 calories a day to maintain 6 ft 185-190lbs, but that seems to satisify his needs. As said before, there are other CFers with different problems, some more and some less. He also has reproductive involvement as is common in men with CF and in rare cases some carriers, but not all men.

There is thought that there are modifying genes which may determine the severity of someones CF but there is NOTHING final about it yet and I agree that may be why the doctor is avoiding it. There is nothing to really explain it so I guess theyd rather not even try.

Julie (wife to Mark 24 w/CF)

 

[NoDayButToday]

Sham- you don't take enzymes?

Lynsey- I am also Deltaf508, and have digestive and lung involvement. However, I will say as my lung problems became more severe, my digestive issues (mainly, my inability to gain weight) became more troublesome also.

 

[anonymous]

At the risk of sounding stupid, with no sinus or DIGESTIVE problems, are you saying you don't take any kind of enzymes and/or sinus rinses??? just asking!



<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i><br>I have deltaF508 and have only lung problems, with no sinus,or digestive problems. I don't think they know if a certain mutation will give you certain problems. Maybe thats why your doc seems to avoid it-because he really doesn't know..



Shamrock<hr></blockquote>

 

[anonymous]

Related arthritis????????????? Is that specific to CFers????????? When did you find that you exhibited pain from arthritis???? What age??? My daughter is forever telling me she is sore or has pain in her legs and joints. She is five yrs. Just wondering if it could be what you're exhibiting?




<blockquote>Quote<br><hr><i>Originally posted by: <b>Dea</b></i><br>Hi Lynsey,

The delta F508 is the most common mutation. Usually this mutation does affect digestive and respiratory as well. Unfortunately, there is no way to tell the severity of the disease by the mutation-2 different people can have the same mutations...but the severity can be totally opposite each other. I have 2 delta F508s and have both digestive and lung problems. As an infant my lungs were bad and not many digestive...now my lungs are ok (not great...but ok) and I have many digestive issues. I have CF related diabetes as well..and CF related arthritis. So the mutations do not control the severity. It is just something that can't be known. Good Luck and Take care!

Dea

31 w/CF<hr></blockquote>

 

[anonymous]

We just got back from speaking with a specialist at Children's Hospital in Boston on Friday, and he told us that because of the genes that our daughter carries, she will almost certainly have very mild, if any, CF symptoms. I'd read about the mutations that affect pancreatic sufficiency less, but this dr. told us that not only will our daughter be pancreatic sufficient, but she will likely not develop lung disease until late in life, if ever. He said that we won't be doing any treatments at all for her, unless she develops issues, which he felt was highly unlikely. By no treatments, he meant no enzymes, no PT, nothing.

As wonderful as this news was to hear, I'm so worried that it's a little too good to be true. We're going to find out if we can meet with another doctor at another hospital to get a second opinion, but has anyone else been told anything like this? Our baby has one copy of DF508 and one more rare, "mild" copy.

-- Jenica

 

[anonymous]

Jenica, my only thought as to why you were told this is because your daughter has 1 very mild mutation. This is just my personal opinion, what I would do if I were in your shoes-I would not put my eggs in a basket before I had a chest x-ray and some sputum cultures done. I would also have a stool sample done to make sure that there isn't a digestive issue, even a very mild one could lead to problems as she grows up. I am not saying the doc is wrong, but they have been known to be and before you withold any treatment that may turn out to be necessary in the long run, I would make sure. Out of curiosity, may I ask how she was diagnosed if she is not showing any sypmtoms?

To the mother with the daughter complaining of aches and pains. To me this sounds like simple growing pains. Well, simple might not be the right word, I remember crying myself to sleep some nights when I was having growing pains (especially in my knees and hips) and I have nither CF nor arthritus. I am not a CF specialist so I would recommend you mention and discuss this with the doctor but if you think back to when you were about her age, you might remember some similar annoying and painful aches and such. It may very well have something to do with CF, and then again it may have nothing. Is she your oldest child, or your only? If not, did your other kids complain of aches and pains?

Julie

 

[anonymous]

Jenica,

May I ask what is the name of the rare, mild copy?

Just Curious,


Maria (mother of three daughters, the youngest, Samantha w/cf)

 

[anonymous]

Julie,

What happened to your sign-in? I'm laughing because I also registered a LONG time ago, but I never use it either!!!!!

Maria

 

[anonymous]

lol, I signed in the other day because I wanted to report that no so kind person who was spamming this site. I have to laugh because I mentioned that it takes a lot for me to sign in so they really pissed me off for me to have to sign in. hehe, I am still laughing thinking about it.
I guess I could log in, but my husband and I share the computer, and then at work I don't always use the same computer and woudl hate for someone to sign on as me...oh boy. so I just stay anonymous, but maybe someday. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Julie (wife to Mark 24 w/CF)

 

[anonymous]

Thanks for the advice, Julie. The doctor did advise us to be very careful with our daughter her first year of life, and that we would be keeping an eye on her that first year. After that, he advised having her seen at a clinic once a year or once every two years to ensure that she hasn't cultured anything. He felt it would be highly unlikely, but still should be ruled out. The dr. mentioned a possibility of having her sedated and doing a lung scan when she was around six months, but said that was an option we would discuss later, and that he would advise against it. Not sure why, since he didnt' go into it. Has anyone ever had that done for their children? And does it seem reasonable to seek a second opinion here? If we hear the same thing from another clinic, wonderful! But it treatments would help, I wouldn't want to delay that either.

I should have mentioned right off the bat that this is a baby still yet to be born (Sept 4 dd) and that we foudn out she has CF from a CVS. I carry the common DF508 gene and my husband has R347P.

To the mother whose daughter is complaining of aches and pains, my neighbor's six year old was diagnosed several months ago with scoliosis. She used to go through spells where she would cry at night from growing pains. My neighbor took her in once, but was told it was just that, growing pains. Then several months later, another doctor found scoliosis. I'm sure this isn't necessarily the case for your daughter, but it might be worth looking into since it is generally very correctable, especially if you can catch it at a young age.

-- Jenica

 

[anonymous]

Hello to you all,

I live in Great Britain, and have been interested in reading your discussion about gene mutation and cf symptoms. Our baby girl (now 4 months old) was diagnosed at 8 weeks with cf. She displayed NO symptoms such as poor weight gain, chest infections, coughs etc. and remains trouble free so far (God willing!) However, in Britain, we have a blood test done on every baby at 10 days old which confirms cf and some other gene related problems. The doctor has told us that our baby has cf mildly because of the mutations, one DF08 and a rare unknown mutation. However, my child has NOT been sidelined and ignored until she is older. She has to attend a cf clinic once a month which consists of her visiting a nurse (to be weighed etc), physiotherapist, a dietitian and the hospital paediatric consultant. We have a detailed report sent to our home after each clinic outlining what has been discussed and the progress our baby is making. Once a year she will have a chest x-ray and meeting with the top consultant in the area to review her progress. She is on a daily antibiotic to stop lung infections from pseudomona and other bacterial infections. We are told she will have to take this for the rest of her life. At present she is not on creon because her pancreas is sufficient, but we are constantly reminded that this could stop functioning at ANY time. Therefore, it is important that although my daughter has cf mildly at present, she has to be monitored to prevent any damage that could take place from future digenstive/lung problems. Although my daughter is well at the moment, and we couldn't believe that she had cf because she has no symptoms, I am glad that she has been diagnosed early so that medication is being given to control any future lung damage. I am shocked to hear that you have been told that your child should have NO treatments/monitoring until there is a problem. That is exactly when the damage is being done!
We have also been told by the consultant that if we have any more children this does not mean that that child would have cf in the same way that our baby girl has. It could be worse or even better. There is no real way of telling, only that if she had had 2 copies of D508 then she would have been ill from the start.
I hope you go back to your doctor and ask what more could be done for your child. Remember, mildy or not, cf is a life threatening illness and the better start she has now will benefit her more in the future!

 

[anonymous]

Hi, I don't know what a sinus rinse is but I don't have sinus problems...as for enzymes, however, what I meant when I said I didn't have digestive problems, I should have said it more clearly, I can digest my food and don't get bowel problems or cramps as a result of not taking creon, so I actually don't take them ...I am prescribed for them though. Sorry, for confusing you!

Shamrock, x

 

[anonymous]

Jenica, I guess you would be able to make a more informed and educated decision once the baby is born. It is good for you to be planning this far ahead, major props for that. However, if I were in your shoes I would still take my child into a clinic about every 6 months or so-just to be cautious. I am not sure how they do the cultures and such in infants, so I am not even going to try to touch on that (mothers and fathers of infants-help.....) but I think it would be benificial to get a baseline test on the child. Although I have no young children with CF so another parent might be able to offer more specific advice.

good luck with everything jenica

Julie

 

[lbarnhil]

Hey guys,
Thanks for everyones reply to my questions. So, from what everyone has been saying am I to assume that the deltaf508 mutation is not a mild one? I never knew there were mild mutations. I guess that is what I was origonally asking. Jenica-I would be careful not to get treatment for a child even if the doc said they had mild mutations, I would definitely get a second opinion.

My daughter already has harsh digestive issues so I guess they will probably only get worse? Or do they sometimes get better? I just wish there was some way to predict the future of my daughters health. My husband thinks I am crazy, (looking for the negative in things), but that is not my objective. I just want to know so I can prepare myself and my daughter for the future. Does anyone know where you can find more information on the different CF mutations?

Thanks to all of you (especially Julie) for always replying to my posts,

Lynsey -mom to Avery 21 mos. w/CF and Rhett 3mos. carrier of CF

 

[anonymous]

Lynsey, is your daughter a double delta F508? I am not sure how much of a difference that really makes because there is still so much that is unknown about the different CF mutations and the severities but I am just curious. My hubbie is a Double Delta F508 and he's got more digestive than lung issues, but as long as he is good about his enzymes, goes to the gym regularly (to lift weights, he doesn't do much hard cardio or he looses weight) and eats about 4500-6000 calories a day he maintains a good weight. When he was younger he was very active into recess at school, played soccer every year until his senior year (year-round soccer). He only stopped when he became more concerned about bulking up than about the cardio, but I think that is what helped to keep his lungs so clar when he was younger. I have heard Delta F 508 is the "most sever" but I think that may be partially due to the fact that it is the most common as well. Therefore, statistically wise, more people have it, more people with DF508 get sick...simply because there are more of them in comparison to the other mutations. That is just one of the views I take.

Some people with CF were very sick as children and are healthier now that they are older (mark was sick until he was about 4-5 even after being diagnosed at 18 months), and sometimes it is the other way around. I can understand how yu want to plan and figure out and do all you can, I truely do but I am not sure it's really worth racking your brain over. As far as websites on mutations...you might want to try just typing in your daughter's mutations and see what comes up with (google and MSN are both good and have some of the same sites, and some different). Again these are just my thoughts, the whole mutation thing is something that is really complicated and quite frankly stumps me. Best of luck and let us know if you do some reseach and uncover anything. Take care and thank you Lynsey

Julie

 

[anonymous]

Julie,
Yes, my daughter is a double delta f508. Like your husband she has mainly digestive issues. She is a very active toddler, very spunky and outgoing (cute as a button if I may say so myself). My husband and I plan to put her into whatever activities she would like, whether it be dancing or some kind of sports. I am glad to hear your husband is doing well. I think he is very lucky to have such a supportive wife as you. I truly hope that one day my daughter will be just as lucky. On one of your posts you mentioned the two of you were looking into in-viro (is that correct?) My sister in law is due with twins this June, she and her husband were struggling to get pregnant (no CF though) and it was successful. In-vitro is such a miracle. We are blessed as a society to have it available. I wish you all the luck in that and you will be in my thoughts. Julie I commend you for all the time you take to answer people on this forum. I hope I am able to have the strength you have soon, I am working on it.
Thanks,
Lynsey-mom of Avery 20 mos. w/CF and Rhett 3mos. no CF

 

[Dea]

To the anonymous poster about the arthritis...yes it is related to the CF. I have had it since I was 9....and it is painful. They say it is more common in women. There is not alot of research done on it...there definitely needs to be more. I have even seen a rheumatologist and he says it has symptoms of both rheumatoid and osteoarthritis. Luckily, it is not actually causing bone damage like rheumatoid does. Also when I was a child, I would get fevers before a flare-up, and I would get what looked like a rash. Little red bumps would come up all over me...and they would be real hot and very sore. It s strange because as I got older I no longer got the rash...but I still get a fever with flare-ups and now, my joints always hurt. I use to take anti-inflammatory meds like naproxen, ibuprofen, or aleve. Those no longer work for me because I used them so often. Now the only thing that works is prednisone. Good luck with your daughter! Take Care!
Dea
31 w/CF