Homozygous Delta F508

[anonymous]

How many adults have this mutation and those who do... How are you healthwise. Every time I read up on this mutation I find info that it's the worst form of CF. I'd like to hear from people who have Double Delta F508, what problems you have, don't have, when & how you were diagnosed.

DD was diagnosed at birth because of a bowel obstruction. Needs enzymes, cultured Pseudamonas at two months, has more sinus problems & digestive problems at this point.

Worried Mom of 2 1/2 year old.

 

[Emily65Roses]

I don't think they have much of anything conclusive about who does how with what mutations. They're currently studying them, but there's no concrete stuff yet. And I could be *way* off, but I was under the impression that DeltaF508 was among the more mild or at least average mutations.

Oh and keep in mind that a lot of the things that will affect your CFer have little to do with the specific mutations so much as the treatment, meds, bacterias, hospitals, doctors, etc etc etc. I wouldn't worry too much over the mutations specifically. Instead, find out about safety precautions you can take with various situations, and be vigilant with meds and therapies.

 

[Faust]

I know I have two mutations, but cant recall what they are now. One was a more normal mutation, but the other one he called weird, not standard, etc.

 

[anonymous]

Our daughter was diagnosed this past August and has the double deltaF508 gene. We were told that the effects of the gene can range from mild to severe. So basically we just have to wait and see how things turn out. She is currently considered mild, but that could change as she gets older and gets more infections. She is 8 years old and has been healthy. She has never been hospitalized or treated with IV antibiotics and she has rarely needed to be treated with oral antibiotics (less than once a year, maybe 4 or 5 times in her entire life). Needless to say we were shocked to find out she had CF. When she was getting tested to find out what was causing a cough, we were really hoping that it wasn't asthma, we weren't really even considering anything more severe. A couple months before the diagnoses she had a chest x-ray come back "clear". When her CF doctor took an x-ray he told us that if he was just looking at it in passing he may have thought it was clear, but knowing her diagnosis he was able to see a few minor things. Her lung functions came out normal, and she only culture "normal" bugs. So I think it is possible to have a mild case with the double delta genes. Atleast we're hoping it can stay that way for a long, long....time.
I think this is the thing I struggle with the most - not KNOWING what her CF will be like. Will she remain relatively healthy and just slowly decline? Will she get a major infection in 1 year, 10 years, 15 years... that will take an extreme toll on her health? And at 8 years old, what do I tell her? Anyway, I know how you feel. I want to find people with the double deltaF508 that have lived or are living a relatively long and healthy life, it would just make me feel like that there really is a chance for my daughter.

Teri
2005CFmom - not logged in

 

[anonymous]

I am 18 years old and have double delta F508. I have been hopitalized once when I was 5 for pneumonia, but that was sort of a flukey thing. My PFT's have ranged from 98-103% predicted over the past 11 years, so they have been very consistent. I play sports very competetively, I am in the band, and I do well in school. I can't think of anything I wanted to do that CF has prevented me from doing. I don't know if this helps, but I hope it at least gives you some hope that your daughter will live a normal life.

 

[julie]

Worried mom,

My husband is 25 and has CF, diagnosed at 18mos for failure to thrive soon after his mom stopped breastfeeding.

He has lung and digestive involvement as well as reproductive involvement. His FEV1 is anywhere from the 82-92% range, depending on illness, weather, time of year... His digestive problems are under control when he varies his meals, one solid, one liquid, one solid, one liquid... He is 6ft and weighs between 172-192lbs, again depending on illness, weather, time of year...

Reproductive-we need IVF to have kids and we are waiting to build our savings back up or hopefully win a scholarship from INCIID. Men with CF can have biological kids, and not all have reproductive problems but many do.

Let us know if there are more questions,

 

[az65roses]

I have 2 copies of Delta F508. I was diagnosed with cf at 15 months. I am in okay health at the age of 28 and so far, I've only been hospitalized 3 times. My last hospital stay was in Feb. 2004. As a child, I never did treatments until I was 12, but I always took enzymes since I was diagnosed. Right now I do treatments 3x's a day, plus I exercise (cardio) quite a bit in hopes to keep my lungs and body strong.

Stacia
28
f/wcf

 

[Marjolein]

<a target=new class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/short/353/14/1443">null</a>

This is a link about another gene that may modify the severity of CF. They studied people with double delta f508. You can read it, it's a bit, well not a bit, difficult to read cause it's all scientific(sp?) but it's understandable<img src="i/expressions/face-icon-small-smile.gif" border="0">

I have those genes to and am one of the severe cases. But i was very lucky that my fev1 was around 30 when is was 11 but then i got stable for a long time. Now it's very low, around 17% but i can still go without o2 most of the days and walk where i need to, not far but i can walk, so i'm very lucky.
I mostly have lungproplems but have a little sinusproblems too and need enzymes. The digestive problems are bit more these last few years.

As you can see, you can't really predict how it will go even if you know the mutations.


Good luck to you and your daughter

 

[anonymous]

Marjolein,
May I ask why you're currently inactive? I would think 17% would be a good time to be active, but since I've not had a transplant or been listed for one, I'm not familiar at what percentage they put you as active and if there are other factors that play into this as well.
Hope

 

[Marjolein]

Hope, sure you can ask<img src="i/expressions/face-icon-small-smile.gif" border="0"> and i will answer hehe.
You are right 17% is a good time to be active. It's just that i had 30% and was active on the list but with that 30% i could do soo much. My body is so well adjusted to it. So after 2 years of being really stable (with iv's but going back to my base again) i decided to go inactive and stay on the place where i was. I was going to my txdoc every 6 months and we talked about how i was and if i was ready for tx. My lungfunction was going down a bit after a few years but not very. It was around 25% still and i could do what i wanted. Didn't know what i missed too i think. But this last year my fev1 is going down again. And more important i'm getting more resistant to ab's to the point where there are only 2 ab's left. And they need ab's during surgery and after if i would need it. And i'm getting short of breath and more tired then i was this last year. Before this year i was never short of breath.
Now i had my second screening 2 weeks ago and waiting for the final bloodresults about antibodies and i can have the greenlighttalk with the txdoc and surgeon and be active again. I waited this long too because i'm allready high on the list from waiting years ago. And it could be that i'll get the call the next day.
You can ask if you have more questions <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[summer732]

It is so funny how different people's bodies react. I was at 28% lung function when i got my transplant and could barely do anything. I couldn't walk without oxygen and was on the couch sleeping for most of the time that I waited for the transplant. It just amazes me how differently CF affects different people

 

[anonymous]

<a target=new class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/abstract/93/1/114
">http://pediatrics.aappublications.org/cgi/content/abstract/93/1/114
</a>
This is a link to an study that compared homoxygous delta F508 gene mutation to several other mutations. They compared age of diagnosis, clinical presentation, lung function, weight & height, complications...
Anyway, bascially the only difference was that patients with the f508 genes were diagnosed at an earlier age. So having these genes does not predict disease severity.

Hope this helps.

 

[serendipity730]

Worried mom,
I am sure that others have explained that calling DeltaF508 mostly just referring to pancreatic involvement and what it causes at the molecular level. I am double DeltaF508. I was diagnosed at birth with meconeum illeus and subsequently diagnosed with CF. I am 23 and doing well. My pulmonary function is in the mid to high 70's the majority of the time. I have been able to go away to college and graduate. I am now in my final semester of graduate school and getting married in the summer. I hit rough spots from time to time. I was hospitalized at 2 1/2, but not again until I was 7 (with a bowel blockage) During childhood (ages 8-13) I was in in the hospital once a year. I took a hiatus from the hospital and hit a rough patch at 16. I was hospitalized 2-4 times a year from the ages of 16-21. I never go into the hospital anymore - I do IV's in the comfort of my own home. My parents began doing home IV's when I was 9, and I highly recommend it. I am about to start one of those "tune ups" soon. I have a scheduled time to go in and get my PICC line (a special kind of IV) then I will go home and a home care nurse will come out.
I have digestive problems, which flair up from time to time. I take enzymes. I do not CF related diabetes and have not have difficulty gaining weight since my early teen's (now I wouldn't mind losing a few!) I do chest PT twice a day (something I would always recommend) and I am on a lot of nebulized meds.
I hope that my story has helped and not scared u. I like to think that my future looks promising. I intend to work full time when I get out of school and have children (my fiancee isn't a carrier!) If you would like to ask me anymore questions, my e mail is mar_md@yahoo.com and if you would like to talk to someone 20 years ahead of the curve, my mom's e mail is gemini0651@yahoo.com

 

[wuffles]

I am 21 with double delta F508, diagnosed at birth through the heelprick test. My lung function is somewhere between 90 and 110% and I have only been hospitalised once with pneumonia. I take a course of oral antibiotics once or twice a year. I take digestive enzymes, a bunch of vitamins and some puffers. I have mild arthritis and sinus problems, but no diabetes.

Hope this helps <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Grendel]

I am a Double DF508. I have had eternal digestive issues, including the removal of my gall bladder. Without my enzymes I experience horrible digestive pains.

My lungs have been up and down. When I was between 10 and 15 I had pneumonia all the time, being hospitalized 3 times a year. After 15 things improved, though so did my environment and my nutrition.

Between 17 and 31 I went into the hospital once a year, sometimes twice. I tried to be extremely physically active year-round.

At 31 I picked up a bunch of parasites and funguses, which have destroyed my health. Fevers all the time, weight loss, hemotopsys, night sweats, and I seem to be congested (coughing up and wheezing 90% of the time, ... it's been no fun. Even after supposedly vanquishing the bugs, I still am in a constant struggle just to feel normal. I don't even get PFTs anymore as they depress me too much. I have always been attached to my scores and when I dropped below 50% as my average performance I gave up paying attention. Now I just go by how I feel as to whether I am dealing with a particular exacerbation.

At 34 I am hospitalized 2-3 times a year, each time for 2-weeks.

Grendel