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

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anonymous

New member
Lynsey, thank you so much for the kind words. As far as our invetro, we have had a bit of a set back (sad day topic on the adults site) but we will eventually make it happen, I am very encouraged by the growing stories of success and increasing success rates. I am just in awe and amazed at the strength that the parents on this site have. There is so much love for the children, so much care and dedication and so much faith. Being a parent to someone with CF is something that takes a great deal of courage, strength, patience, hard work, DEDICATION, time, understanding, compassion, love, hope...the list goes on and on. Every parent and every person on this site, whether they be a parent of a cfer, a parent with Cf, the spouse, boyfriend or girlfriend of someone with CF, or the grandparent, aunt, uncle, cousin...their strength never fails to amaze me every day. So you should be proud of yourself as a parent!

It sounds like you have a great attitude about her being an active child and playing/doing whatever it is she so chooses. I really think that is the best way to go about it, my husband was never treated differently than his siblings or any of his friends-he was allowed to do the same activites as they were and he was expected to have the same responsibilities as they were. I think the fact that he grew up knowing he could do just as much (if not more) as those around him and still deal with his CF (meds, treatments, being sick, taking minor precautions...) gave him the outlook on life that he has now and has made him determined to accomplish his dreams and aspirations. Keep up that positive thinking.

Julie
 
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anonymous

New member
Hi Julie,

We have never spoke, but you have always impressed me. Your husband is a lucky guy to have such a proactive and knowledgable wife. Sorry to hear about your IVF problems. I'm impressed by your positive attitude and great outlook. Great things are possible with those two things! Please keep us posted on how things go. Thanks for always encouraging us as parents and CF patients alike - - good luck to you and your husband.

Carey
(Mom to 5 year old son w/CF)
 
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anonymous

New member
hi everyone, i am 15 weeks preg. and had a amnio today cause my partner and i r both carriers that have deltaf508 mutations..the gentics lady told me IF the baby has cf it will have the most severe case and we have till 20 weeks to terminate if we want too..i got a movie done with the baby at the ultra sound and pix....How could I do that when I hear of other ppl being ok for what they r goin threw? its a innocent baby...I am so confused and upset is this true its gonna be severe cause of the 2 same mutations?? I will know ina week and prey its negative...plz anyone write to me..ty.....Lorri ........due nov.8
 
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ctelenda

New member
Ditto for me on the CF related arthritis ? My son also complains about his legs hurting and sometimes feet. Any thoughts ?
 
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anonymous

New member
Lorri, I am not an expert by any means, but from everything I've read and understand, the symptoms of each CF patient are different. There can be mutations that are typically milder than others, but they're doing a lot of research right now into other factors that contribute to the severity of the disease other than the gene mutation. Siblings with the same mutations (and usually this is DF508) can have completely different health histories.

And don't feel that this is an automatic death sentence, because I don't believe that it is. They raised the median life expectancy this year to 35, meaning that the median age of all CF patients that passed away THIS YEAR was 35. These are people who were born in 1970, and there have been some great advances in the previous 35 years.

If you have the time, I would seriously advise you to read through some of the posts on this board. You can get a fair idea of the lives that people who live with CF on a daily basis are living. Some of it is bad (posts on how to deal with coughing, poor growth of children, etc), but some of it is very uplifting as well. When I joined this forum in early March after finding out that the baby I'm carrying has CF, one of the first posts I read was from Coll and the great time she had at a cousin's wedding. She had posted pictures as well, and it was such a breath of life for me to look at a person who has CF, but was dancing, having a good time, having fun like I want my daughter to have fun at 16.

I really hope your amnio comes back with negative results, but in the meantime, feel free to post any questions you might have. I'm new to all of this, but there are a lot of people on this forum with a wealth of information, and I've found a lot of support and gotten a lot of questions answered here.

-- Jenica
 
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NoDayButToday

New member
Hi, this is the Coll Jenica is referring to. I'm Delta f508. Jenica's right, CF is not an automatic death sentence. There are many new treatments in the pipeline. For older CFers who need them, lung transplants are a real, sucessful option (Candice, Joanne Schum, and supermanfan come to mind as people I know from here who have been TXed). Here's a modified post of mine from a few months ago:

As a youngster, I was basically limitless in my activities-- as long my mother and I made time for my treatments, I was allowed to spend my day like any other 3 year old chooses to. As I've gotten older, some of my activities have been limited (running poses a problem now, so I no longer play sports for my high school; I manage instead and have just as much fun). Just to clarify that parenthetical thing, I can still play sports for fun (my friends and I sometimes organize softball on a lazy Sunday in the summer) but I no longer play competitively because my stopping to catch my breath wouldn't gel with a high school team.
I lead a pretty typical teenage life, just modified a bit to fit in treatments (aerosols, CPT, pills, tube feeding). I manage sports, am on debate, in band, and in the Celtic Club. I sleepover my friends often, just have to remember to bring my treatments and 'machine'. I can stay over a friends house or stay in town at our diner (I live in a pretty dull town) as late as I want; or rather, as late as my mom would prefer me to, so long as I can stay up once I get home to do my treatments and do them right. I can definitely sing-- my friends actually say that I'm the best singer in our group of friends; personally I think my CF congestion gives me a more rich tone or something like that. I am able to dance-- maybe not very well, but I can certainly have fun doing so. I'm known to run around on my friend's lawn in the summer during storms in our bikinis, dancing like lunatics. I babysit often. Being in the sun poses no problem for me, except for my pale Irish skin burning without sufficient sunscreen. Dust or pollen affects CFers no more than the average person UNLESS they have allergies along with CF.
That's more day to day stuff. In my life, I've traveled, I swim at the beach, I swim at the pool, I've gone to sleepaway camp, I've gone whitewater rafting, kayaking, on a zipline off a cliff. I've explored (and continue to do so) the greatest city in the world (NYC), I've been in a movie, I've pulled all nighters with my friends just talking, I take baths every night, I love to eat, I've won awards, I've been in Accelerated level classes since they've been an option, I've been a bridesmaid and a flowergirl. I've played flute and piano for years, I am a master at the card game Spit, I gave speeches at graduation.
I play Scattergories with my friends VERY often, I sit in my pajamas sometimes til 4pm watching movies with my girls, I am addicted to decorating shows, I read tons of books, I like a good tabloid sometimes. I play stupid games with my best friends to pass the time in the car to the beach, I love nothing more than a dispenser filled with Pez, I STILL like to color, I'd be lost without my mom and my music. When I'm in there, the hospital is just another stop on my journey. I have many more plans for my life.
I was actually just going through my photos piled in my room, and have to say in each of them, from babyhood to a few weeks ago, I look very happy. My mom looks happy, my friends look happy, we are all happy. CF is a very sorrowful thing for me sometimes (as it is for my mom and everyone who is a part of my life), I wish every single day that it would be over and done with, but despite CF, I would never wish that I wasn't born. My life is too great for that (even with CF as part of the deal).
 
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anonymous

New member
Coll,

You are beyond your years. Your post put a big smile on my face. You have an amazing (and still realistic) attitude and this will take you further in life than anything else. You're awesome!!! (Hey, what U2 fan isn't, right??) <img src="i/expressions/face-icon-small-smile.gif" border="0">

Carey
 
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arabeth

Guest
Hi Lorri,

I know this is a very stressful time for you and your family. I hope that the results come back negative for CF; however, if that is not the case, please take comfort in what everyone is telling you. I have 2 daughters with CF, both are double Delta F508. You are most definately a step ahead of the game by knowing this is a possibility. Neither myself or my girl's father had any idea we carried the gene. There was no history of CF in either family. Unfortunately my first daughter had to suffer a great deal for the first 2 1/2 years of her life while we struggled to figure out what was going on. She was hospitalized several times during that period of her life. Once we finally got the correct diagnosis, things changed dramatically. She was hospitalized for the last time on her 3rd birthday, shortly after her diagnosis. She is now 10 and is doing extremely well. And my second daughter, now 6, has never been in the hospital. I was also told that the Delta F508 was the "gene you don't want to have" when my first daughter was diagnosed. However, in the time since the diagnosis I have learned that there is such a great variety in severity of CF cases, regardless of the mutation, that there really is no way to know. My daughters have exactly the same mutations, yet one struggles to gain weight and the other doesn't, one had sinus problems and the other doesn't... they are completely different. Gratefully, neither have had severe lung problems as of now. If the diagnosis is positive for CF there will certainly be some time for saddness and confusion, no doubt about it, but once that starts to fade you can turn that into positive energy by adjusting to the routine you will set for your child. You will have the advantage of starting proper care for your child from day 1. That will also benefit your child because he/she will never know anything else. Treatments and enzymes are much easier for my second daughter because it has always been a part of her life. For my first daughter, diagnosed at 2 1/2, learning to take enzymes and sitting down for treatments was a very difficult adjustment. I guess to sum up what I am trying to say, if the diagnosis is positive for CF, as hard as it may be for you to hear, try to take comfort in that you have a huge benefit in knowing so early. Finding this website and having so much information at your fingertips will also be a great benefit for you and for your child. My thoughts are with you and your family.
 
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Dea

New member
Lorri,
I know this has to be a very tough situation for you. None of us can tell you what to do...that ultimately must be your decison, but we are here to help. I am 31..will be 32 in July. I have a double delta F508 and doing quite well. My lung function is still in the low 70s on percentage..and I have some digestive issues. I developed CF related diabetes...almost 7 years ago...just 6 months after I had my daughter. The doctors cannot tell how severe a case of CF is going to be no matter what the mutations. If this baby does indeed have CF....he/she will have such a great chance at life. The research and the medications that are available now are so much better than when I was born. They told my parents I would be lucky to make it to 10....HA...they dont know me that well! I promise you if this baby has CF...he/she will be such a strong child...mentally. We all just want to beat this disease. I have had my share of problems, but each one makes me a little bit stronger. I am so glad that I am here and I was given that chance. Oh...I also have a 24 year old brother with CF who also has the double delta F508 mutation. He also is doing very well! So, I hope our stories give you some hope! Take Care!
Dea
 
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anonymous

New member
I know we heard horror stories from many about the double whammy of delta F508 for our daughter. I asked her CF specialist and he said everyone is different and they cannot give a prognosis based upon the mutation. He also told me to look on the bright side - delta F508 is the most common; therefore, it is the gene that the majority of research studies are focusing on - so the newer medications and treatments will initially be geared towards this mutation.
 
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anonymous

New member
my child had delta f508. she was diagnosed at 15 months. we were told she would not see her 3rd birthday. she will be 16 in 2 weeks.
only god knows.
 
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anonymous

New member
wow thank you all so much for all your stories. My biggest thing was I just dont want to see my child suffer in life. I have a 7 yr old downs girl she was born healthy and she is not severe at all so we been threw alot of horror stories and she has proved them all wrong!! I feel this is my child we created him/her out of love and this is the child god has chosen for us. I wont know the results till a week or so. I will keep u all updated! I want to thank u all for your stories it makes me feel soooo much better IF my child was to have cf. Take care all of u and keep in touch......Lorri
 
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anonymous

New member
Carey, thank you for your kind words-they are much appreciated!

Lorri, I have to ditto what everybody else has written so I won't elaborate on any of that. Just from a personal situtation, my husband was diagnosed at 18 months (failure to thrive, pneumonia, numerous hospitilizations...). He has not been hospitalized since his diagnosis over 22 years ago. He has lung involvement although through proper medication, chest PT (which he loathes but does to appease me-and for his health) and activities he has kept it under control. He also has a lot of digestive involvement but again in taking his enzyme medication and eating us out of house and home (food stamps have been a big help in our household!) and doing weights at the gym with occasional and limited cardio, he has been able to maintain a healthy weight. When he was diagnosed the docs said he wouldn't see 5 years, then it was 10, then 18, now his doctors are saying 40+, even more as medicine improves. He is a Double Delta F508. This is a very personal decision, I am not the parent of a CFer-only a spouse so I can't imagine the soul searching you are doing as a parent but know that if you do bring this child into the world, there is hope. It is a very personal decision and I will be here to offer support either way you choose. Please do let us know what the results are. If you ever want to email me privately don't hesitate to at division902@hotmail.com.
Take care,

Julie (wife to Mark 24 w/CF)
 
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anonymous

New member
Hello everyone..well i got a call today from the genitcs lady..she said that it looks like the baby is just a carrier for cf. but there was some of my blood in the amnio that the lab guy wants to double check it wasnt my cells but she said he is almost certain and can tell me the baby does not have cf just a carrier...i am sooooo happy but in the meantime thinking oh no they have to double check? am i crazy what u all think that its negative or else why would they tell me that?? .......Lorri ...........due nov.8th
 
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anonymous

New member
Lorri, I am not too familiar with how the amnio's work and if double checking is a standard with an amnio. Hopefully someone wo has had this test can shed some light. On another note, I really hope they are correct that it is negative and that is wonderful news for you. Let us know what they say about the other results.

Julie
 
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anonymous

New member
GREAT NEWS!!! well the baby is just a carrier for cf..I am sooo happy. I can finally enjoy this. I was so upset but also gettin prepared for whatever I have to do fo rmy child regardless. What happend was my blood got into the amnio so the doc was makin sure he got the babies cells...wich he did... ty for all your support...i am def. makin donations to cf. anything i can do let me know...bless you all!
 
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anonymous

New member
Lorri, that is wonderful news, and I am so happy for you! Have a wonderful pregnancy, and enjoy that little baby when he or she is born!

-- Jenica
 
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