serendipity730
New member
Hi everyone! I was wondering what CF mutations everyone has and how that relates to their severity. I have 2 copies of delta F508, and my pft's are in the 70's. Mary (20 w/CF)
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Mutations
- Thread starter serendipity730
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My two mutations I have are the delta f508 and r347p. The first one is the most common among caucasians (I believe) and the second isn't understood very well. I can tell you that I've suffered little or no gastro intestinal problems with no stunting of growth (due to malabsorption) and no diabetes- and until my lung infections got the best of me, I was in fairly good health for most of my life. -Wes30 w/cf
Hi Mary,I am almost 30...this month...I am a female with CF. I also have 2 copies of the delta F508. My fev usually stays in the 80% range. Lately its a little lower as I'm just getting over a small infection. I know for at least the last 10 yrs my fev's have stayed in this range. I guess I have been really lucky. As an infant my lungs werent very good...thats how I was diagnosed. However, I do have other complications due to the CF. When I was about 10...I started having problems with pain and swelling in my joints.....which they now call arthritis...but is CF related...they dont know much about it. I also have the normal sinus probs that most CFers have. I was diagnosed with CF related diabetes almost 5 yrs ago....after the birth of my daughter(who is CF free). Last year I had to have 3/4 of my thyroid gland removed.....the docs are not sure how or why...but definitely CF related. I also have a brother with CF who is 22...has the same mutations and doing pretty well lung wise. Besides being underweight...he is doing quite well with the CF...even though couple years ago he cultured for pseudomonas. I on the other hand....culture for diff types of staphs...keep my fingers crossed. So even though with the same mutations...we are quite different except for the lungs. I definitely have more digestive probs than he. Such a strange disease. Anyway...guess I gave u more info than you asked for...oh well....gotta go for now!Dea
Hi Mary,My daughter is four and a half with CF. Hew mutations are G551D and 1898+1G<A The first one is fairly common to German. Welsh, Polish and Slovic people as I understand it and I don't have much info on the other one. Up until her 2nd birthday Rachel's CF seemed very severe, but she hasn't been sick in over 2 & 1/2 yrs. Her PFT's are in the high 90's. Good luck with this, I am curious to see if anyone has that 2nd mutation that Rachel has and what it means. Andrea
serendipity730
New member
Wow! I'm jealous<img src="i/expressions/face-icon-small-wink.gif" border="0"> Do you have an digestive involvement? Mary (20 w/CF)
Hi,My cf genes are DF508 and W1282x, and although they say I am NOT pancreatic sufficient, I have NO problem with keeping weight on. I have bad intestinal problems, like intestinal blockages and constipation, even though I take 2 Creon 20's with meals. Any more enzymes, I'd never be able to go to the bathroom. I do take Miralax every night, which is a different kind of laxative, it doesn't stimulate the bowel into moving like harsh laxatives, but it adds sufficient water to the bowel and produces a regular bowel movement. My intestinal problems are worse than my lung function, but almost equal. My FEV1 is in the mid 50's. I've heard that the W1282x is common in jewish people. Also, they say that genotype (what your cf genes are) has nothing to do with phenotype (what your symptoms are), but I am always curious how truthful that is....36 with cf
My daughter was diagnosed at birth with CF - she's now 2-1/2 months old and I am reeling not knowing which way is up. Her mutations are also W1282X and Delta F508. Are there are studies on the combinations of such mutations and where could I find out more. Also, what are PFT's? (Is it pulmonary function test?) and what is fev? Sorry for the impositions with questions, but this is all new to me and I am looking to those already educated to teach me. Thanks and good luck to you.
Hi,questions are never impositions here. FEV's are numbers that are gotten through the pulmonary function tests. they have to do with the velocity of the air when it is forced out of the lungs. You probably won't have to worry too much about them until your child is a bit older. If you are looking for a VERY active online group go to http://groups.yahoo.com/group/cfparents this is a group for parents, grandparents, aunts and uncles that is very open and welcoming. they can probably answer almost any question you want answered, or direct you to somewhere online where you can get help. They are also sometimes very FUNNY and humor can really help when you are having a bad day. I am sure that I have an address somewhere for a site related to mutations, but i don't think it discusses particular combinations. I'll look and post it when I find it.AndreaMom of Rachel, 4 & 3/4 with CF
Hi Mary,Good idea for a thread! I am interested because I have a 16 yr. old with cf. SHe has the DeltaF508 and the R553X. Her digestion is good (she takes Pancrease) but I'mworried because she has lost some wieght over the last year without trying,but she is very particular about what she eats,and chooses nutritious low fat food. Her lungs have gone downhill a little too this last year and was perscribed inhaled steroids (low dose) which she refuses to take. I want her to be as strong and healthy as possible but she is very adamant that she wont take it. I know its not a medicine you can go on and off of...I need some advice and input on the subject, If anyone could help.thanks I'd really appreciate it, Anonomous
Hi, My name is Melissa and my mutations are DF508 and G551D I am 29 years old right now my FEV1 is 54%. I also have been cultured with MRSA just 1 month ago. So far my health is doing great but my FEV1 is down it was 72% at the begining of Spring.Take Care All, Melissa 29 W/CF
Hi Melissa,I don't know what MRSA is, could you tell me ? Also I was wondering where everyone gets thier FEV1 numbers from. Ihave gone to the Pulmonary Function tests with my daughter but the nurse never gave me a number, only showed me a wave pattern on a grapgh. I would like to be better informed, also excuse my poor spelling,thanks,"anonomous"
<img src="i/expressions/face-icon-small-confused.gif" border="0">i need some help... my sister is pregnant and just found out the baby has cf...is there any reason (truthfully) that anyone could give me why she should abort this child??????? i know this sounds awful..but i just need to know how bad it can get. thanks
Wow, I guess I'm speeechless! I'm a 30 yr old female with CF. I couldnt imagine if I had not been given the chance to live my life here on this earth! Yes I have a terrible disease...but it has made me a strong and caring person! I know how to live one day at a time....and I know how to put everything I have into all I do. I never give less than 100% and I know that is because I know each day I have here is very special!Every person with this disease has different severities......this baby could have a very mild case! Also there is so much research going on....that this baby could see a cure for CF in his/her lifetime! I'm sorry....I dont agree with abortion....this is already a baby! And as I have already said....I am doing quite well for my age...and I know several who are in their 50's with CF. This disease can not be looked at as a death sentence.....it has made me who I am today!Take Care and God Bless!Dea
Man! Never expected to hear that kind of question before. I have to say that I love my life and every aspect of it including my CF. I think there is something to say for us CFers. For one we have learned to be greatful for everyday and our health. Yes despite have a genetic disease I am thankful for the fact that I AM healthy. I do treatments and take meds, but that is the same as you brushing your teeth, we do things to keep ourselves healthy. I also think CFers are not as judgmental. I never judge a person with disabilities and I often am greatful that my disability allows me to go to school and work and live a basically normal life. Others take everyday for granted, but CF has taught us that each of us is lucky because we are still here and I for one am loving everyday. I am not telling you what to do, but I would be heartbroken if you decided that this BABY this human who just happens to have CF don't deserve to experience life and all of the wonderful things it has to offer.
The degree of sickness for each CF'r are extremely varied. I have such a mild case of CF that I wasn't diagnosed until I was 54. I have lived a very full & active life. There is no way to tell how much the child will be affected. I would say a lot depends on your sister, her family situation and her ability to cope with a child who may be sick a lot & will need medical isurance. I agree with the others that there are great advances in medicine. For example, now there are lung transplants for those whose condition is severe. Who knows what next year will bring? I think if you read through many of the messages that are posted here, you will see the various ups and downs of the disease but you will also see the positive & supportive attitude.MARY55W/CF