CF Parent with a question about Delta 508 mutations?

[anonymous]

I have a 1 year old daughter, Hayley, who has CF and she has two Delta 508 mutations. I have heard that this is the most common double mutation of CF. I also have read that some mutations are milder and that even children within the same family with the same mutations can differ, however, I am just curious how many of you adults on this message board have the double Delta 508 mutation and how you are doing? HOw old are you? If you don't mind me asking? I am trying not to focus on life expectancy but quality of life for my daugher, she was diagnosed at 3 months after a severe bout of reflux, which turned into aspiration into her lungs. She then had to have a Nissen Fundoplication and was still having respiratory distress, so they ordered the sweat test, and then the horrible day we got our CF diagnosis. SO anyway back to my question, I am trying to focus on positives and I am hoping that some of you with the same mutations are living long lives and doing well. This information will help me stay positive. THanks again for any information you give me as well as any advice!!

Becky, Mom to Hayley, age 1 with CF and Nathan, age 4 without CF

 

[anonymous]

Becky,

I did not sign in, but I am 43 with double delta 508's. I am on disability,but I am doing pretty good. I am having a GREAT life.

Rosie

 

[wuffles]

I have double delta F508. From what I gather, typically this mutation is cited as being one of the more "severe" mutations, however, that seems to have a lot to do with the tendency to cause pancreatic insufficiency.

I'm 20 years old and was diagnosed a few weeks after birth, as I'm in Australia and genetic screening is mandatory here. I had a lot of trouble gaining weight as a baby and that was probably my main problem back then. I'm pancreatic insufficient and therefore find it a bit hard to gain weight still but I'm in the lower "normal" weight range. I've had relatively mild lung involvement - I also have asthma and that tends to cause more problems than CF as such. I've only been in hospital for sinus surgery and a bout of pneumonia, and go on oral antibiotics once or twice a year typically, I haven't really needed IVs yet. I culture pseudomonas but it doesn't have much of an effect most of the time, thankfully, and my lung function is generally between 90 and 110%. In high school, I played volleyball and cricket, played flute and percussion in 3 school bands and did debating. I graduated in 2001 then went to uni, which I graduated from in November last year. I've moved out of home and live with my boyfriend of 3.5 years, and work for the government full-time as a designer.

Even though I'm still quite young, as you can see, double delta F508 isn't a death sentence <img src="i/expressions/face-icon-small-smile.gif" border="0"> There's really no way to tell which path the disease will take over the course of your daughter's life but just letting you know there are people out there who live wonderful lives despite CF <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[jaime]

Hi Becky,
I also have double DF 508 mutations. I was diagnosed at birth with meconium ileus. Im 27 years old. Now that Im an adult of course CF gets in the way sometimes and there are always new health issues to deal with, but Im still working full time and living my life to the fullest extent possible.

Like you said, no two people with CF are the same (even with the exact same mutations) and there is no way to predict the severity of your daughters disease. Just remember that everyday new advances are made, new medicines discovered, try to keep on top of treatments and chest PT, keep her little lungs clear!!
Good luck to you and your daughter.

 

[anonymous]

Hi,
I'm a double delta F508. I'm doing pretty well. I'm 22 and have pulmonary fuction tests in the 70's. I was in the hospital about once a year growing up (from age 8-14.) I have had two bowel blockages, but now that I am older that is more under control. The first blockage required surgery the second did not. I have been in the hospital more often since my mid to late teens. Now, I am usually on IV meds 2-3 times a year. Other than that, my life is very normal. I graduated college last year, am getting my masters, and getting married next year.
Hang in there!

 

[serendipity730]

I forgot to sign in, but that last one was me!

 

[Dea]

I will be 32 in July and I also have a double delta F508..and doing quite well. My lung function remains in the low 70s. I have lots of sinus probs. I developed CF related diabetes in October 1998..just 6 months after the birth of my daughter (who is CF free). But overall, I feel I am doing well for a CFer. I also have a brother who will be 25 in August...and also doing well. His symptoms are even less severe than mine...and of course he also has the double delta F508. Take Care!
Dea

 

[anonymous]

Thanks Rosie!! Glad you are still doing well!! And 43, wow!! It always gives me so much hope to see people living longer and longer with CF. (Sometimes I wonder if I will make it to 43!) Thanks again for your reply!

Becky

 

[anonymous]

Thanks Emma for your reply! It is inspiring to see all of the young people on this forum who are graduating from college and working and having very full and happy lives despite having CF. It gives me great hope for my daughter's future! Thanks again for your reply!

Becky

 

[anonymous]

THanks for the reply Jaime! We are vigilant about her treatments. She gets Xopenex three times per day and Pulmicort 1 time per day and CPT three times per day for 15 minutes each time! I am happy to know that your are living your life to the fullest and hope you continue to do so! Thanks again!

Becky

 

[anonymous]

THanks for the reply Dea! Also wonderful to know that you had a healthy baby! I am so hoping that things will work out for my daughter to have a child of her own some day! It's one of my fears that she will not be able to experience the joy of giving birth to a child! Thanks again for your reply and I hope you and your brother continue to stay strong and healthy!

Becky

 

[anonymous]

Thanks for the reply Mary!! I am glad your are continuing to do well! Getting your master's and getting married soon, you sure will be busy! Thank you for taking the time to reply to my post! I really appreciate it!

Becky

 

[IG]

I also have Double Delta F508. My problem has been primarily in the lungs. I was diagnosed when I was 6 years old and had a transplant when I was 17. Other than the problems with the lungs I haven't had many others.

 

[2sickkids]

My boys have the same mutation and they are both affected different. 2yr old is all GI problems and my baby has all the problems that go with CF but diebetes. Just wanted to say wow how did you get your pft's so high 70 and 90 or more. When I see my pulm she is amased if I get 40 on mine.

 

[anonymous]

My daughter is double delta 508, 20 years old, away at college and very active. She has never been hospitalized or had IV antibiotics. It takes a lot of work (and luck) to stay healthy, but the pay-off is enormous.