Does a Carrier of the CF gene exhibit symptoms?

My nephew has a less damaging gene from my brother and the common mutation from his mother. His vital statistics have been better than most, but the way in which his parents have approached treating the disease in a preventive manner makes it hard to gauge how much that treatment vs. the genetic mix has led to my nephew's current relative health. I can observe that two of the most important components of my nephew's lifestyle are ingestion of enzymes and freedom from germs, and they seem equally important.

ive just been tested for cf..... over the last several yrs ive had cough /coughing up blood,thick mucos coming up.ibs,lung diease bronchectisis,asthma,sinus probs,theyve found ive a delta f508 in my blood test,also my 20yr old daughter is un able to have childern we find that out wen she was 16 when no monthlys came (periods) dose this mean im a carrier??ive got to wait for gennetic testing which could take weeks for the appointment to come any advice wud be gr8...thanks gilly osborne.

My mother was diagnosed with a rare form of CF at rather age of 67.  I urge you to google Dr. Iseman in Colorado.  My mom's doc consulted with him, the internationally reknowned doc on respiratory infections.  I am a carrier, not found in pregnancy screen.  My daughter is a carrier. Waiting other daughters test to come back.  Also important to note, my mom has a negative sweat test.  Docs immediately negate the possibility of CF when negative sweat test.....keep fighting.  Look for those mutations.

Hi, I have a 2 year old daughter who was born with the Cleft Lip and palate. She has always suffered from sever sinus infections, nasal polups, ear infections, and upper respritory infections. All of her doctors have used her Cleft as the casue for her symptoms. She was also a breast fed baby who was suffering from failure to thrive. Her pediatrician stated I most likely had a breast infection and that we needed to put her on formula. So after bouncing through all formulas, we found that Neutramigin was what worked best for her. She ALWAYS had very abnormal stool. On breast milk it was extremely odorus. the only word to describe the smell was horrindous. The doctor said that was from the breast infection. The smell was just as bad if not worse while on formula. The doctor said that was because this particular formula had a stronger smell. From the very first bowel movement i KNEW something wasnt right. I mentioned this to her doctor EVERY time we had an appointment (which was every week due to her sinus/pulmonary issues.) The moment she started baby food and table food, she STOPPED growing. There is just no other way to put it. Finally after 2 years of informing her doctor that something wasnt right he referred us to a Gastro Specialist. We are going on 8 months of testing, [Blood work, X-rays, EGD, Ultrasounds, and Genetic testing.] 2 days ago we received a call that she was indeed a carrier of a very rare mutation of the CFTR Gene [R764X] aka. [c.2209c>t] her doctor stated that this mutation was so rare that only 13 patients have EVER been reported to have this mutation (including her). Her father's first cousin has a severe form of CF. Shes 7 years old and her prognosis isnt good. My family has no known history of CF and my husband and I have not been tested. The doctors are telling me that my daughter is an ASYMPTOMATIC CARRIER of CF and because she is ONLY a CARRIER her symptoms are NOT related to this genetic mutation. However they have her on a difibulator for her newly diagnosed "asthma", pancreatic enzymes, an appetie inhancement drug, and vitamins to treat the vitamin A, D, E, K defency she is suffering from, and a 5,000 a day calorie diet. She currently has multiple diagnosis: Failure to Thrive, Abnormal Stools, Steatoreaha, vitamin defincy, fat malabsorption, asthma,  generalized abdominal pain, pancreatic insuffency, malabsorption, malnutrition, abnormal bruising, and cleft lip and palate. I wonder if it would be possible to have full blown CF that would be caused by only ONE mutation on the CFTR gene....

I will keep everyone updated.

Ashley

I have always believed being a carrier of CF causes problems, just not as life threatening.  My daughter died at the age of 22 after having a double lung transplant because she had the disease of cystic fibrosis.   I myself as only a carrier of the gene, have had a very chronic cough, and diarrhea my whole life, exactly the same as my father did.  I told the CF doctors that cared for my daughter all these things and they said to me that having the gene as only a carrier caused no symptoms at all.  I don't believe this.  I can see from reading all these messages that you don't either.

I am a widow, 75 years of age and a cf carrier.   My niece died of cf (in 2000) when she was 32.   I suffer with many digestive problems as well as chronic sinusitis which never leaves me.   My sister was told carriers do not have "the symptoms".   Well....I might not have full blown cf but i do have a lot of problems in my life.   So, I agree with those of you who believe cf carriers do suffer ill health.   I feel somewhat better after reading about other "sufferers".   I live in South Africa.   Take care of yourselves and know that you are not alone.

You should ask your doctors about ABPA (allergic bronchopulmonary aspergillosis).  I was finally diagnosed with it and started a 4 month treatment.  I am trying to find out if CF carriers get this as well as ppl with CF.  I had uncontrolled asthma and was constantly on antibiotics for bronchitis, pneumonia, sinusitis.  I would get lung infections 6-10 times a year.  I am at week 14/16 of treatment and since beginning the treatment I have not had to use my inhaler or nebulizer :).  Unfortunately I have been dealing with it for over 16 years and now my lungs are so damaged they look like a CF patient.  I was tested for CF and came back negative.  I have not been tested as a carrier yet, but I will be soon. 

Ashley,
How is your daughter doing? I have friends who have kids with CF who are on a "low oxalate diet." You can join the yahoo group called "trying low oxalates" for more info, and to connect with CF moms. There are vitamin supplements that can help too. I am a CF carrier as well as my brother... he has extremely bad nasal polyps and I am very sensitive to foods. We know of no one in my mom's family that had CF. My kids have not been tested. Both of my kids are on the spectrum (asperger's) and we use diet and supplements as part of their therapies, as well as other mainstream things. We see alternative doctors. I think the biotin we take really helps the CF symptoms, because it helps the CFTR enzyme somehow.

finally someone with some common sense. My whole family has sinus problems, stomach issues, and respiratory issues. There are also a lot of diabetics. I met a doctor at usc on the street. He told me that carriers are half way between normal and having cf. when i sweat, it burns me from the salt. Lately i have been having cardiac arrythmias that get way worse when i sweat. Im attributing this to an electrolyte imbalance, which is basically what cf is all about. Read about electrolyte functions and you will understand those chronic family problems better.

I too am glad there are so many people commenting on this question.  I am a carrier and have always had sinus issues, although I don't seem to have had any GI issues of importance.  My daughter has CF and I too have had many discussions where my concerns were dismissed out of hand--fortunately our team keeps very current on CF research and they actually have been changing their opinions and treatments for both our daughter, and their opinions about possible symptoms experienced by carriers as a result of new research coming out.  It has got me excited to learn more about gene expression and get involved in things like protein folding sims on the web, as well as be active in fundraising to cure this horrible condition.  Let's all be a force for inspiring change and positive healthcare! Oh... and also we have a friend who was diagnosed with CF at 50!  So the disease CAN be expressed too mildly for doctors to notice (but you do need to have both genes affected), and can go undetected by doctors for a long time!  Thanks!

This is all completely fascinating.  I was diagnosed as a carrier of CF during my first pregnancy, ten years ago.  My husband was cleared - is not a carrier - so we are safe there, but my sister and her husband chose not to be tested during pregnancy.  Their first son is fine, but their second has CF.  He has few lung problems as of right now, his CF is mostly digestive for the moment.  He has a feeding tube and was also recently diagnosed as being diabetic.  It's a roller coaster, for sure.  Generally 2-3 hospital stays a year, but we fully expect that to increase as time goes on.  He's 7 at the moment, and the fact that he might not make it to 20 or 30 is something I can't even think about.

Being a carrier, I have ALWAYS (since learning that I'm a carrier, anyway) believed that carriers show symptoms of CF even if we don't have the full blown disease.  I have had asthma as a child, and sinus/respiratory problems since birth.  I have horrible sinus problems to date, and get frequent headaches and migraines.  I have also have continuous digestive problems since high school, again, to this date.  You will never get me to believe that there is no correlation between CF carriers and the symptoms of a CF patient.  I am so glad to see many people agree with me!

We in my family do not know who the carrier is on my parents side.  It is most likely my father, but if you knew my father, you'd know it's probably best that we don't gain that information right now.  He wouldn't handle it well, despite the fact that it's not something he could have prevented.  Anyway, I hope to someday find out, but we're pretty sure it's him (if not both he and my mother, but that's not likely given no history of the disease on my mother's side, or anyone exhibiting the symptoms).  My father is into researching our family history and has come across many child deaths, frequently noted as "failure to thrive" or "a weak child since birth," and often "always sick."  My father also suffered many stomach and digestive problems as a teenager, though I don't know if they still plague him now or not.

Do any of you have issues with excessive head sweating? My mother, daughter, son and myself all head sweat, if working but sometimes just under stressful situations without any physical exertion. My mom, myself and daughter are carriers (not sure about my sons) and I had 3 sisters die from it. Just wondering because our hair can get drenched. I have always thought it ws related to being a carrier of CF, but we do nt have any of the other symptoms you mention.

 

 

There is definitely such a thing! My daughter has had issues since I was pregnant with her causing an amnio, gene testing, and many visit with specialists. She has had a life-long battle with her "symptoms." She is four and has spent most of her life ill, in and out of the dr & hospital . She has chronic respiratory infections, asthma, immune efficiency, and severe GI issues. She has a specialist team at a University Hospital she sees about 4 times a year. She is "just" a carrier but is asymptomatic and has spent so much time in and out of the hospital. She just got done with another upper and lower GI scope and testing (she has always had bleeding, diarrhea, constipation, gas, & pain issues). It is so frustrating to have no relief and the only answer keeps coming back to this gene that she is "just a carrier" of. She also spikes high fevers with no other symptoms or warning. Last night she was at 103 all night. I have lost 3 jobs (single mom) due to no one being able to care for her when she gets sick & her last hospital was just shy of 3 weeks. It seems this is just what her life will be. But by the grace of God she is a fighter and through Him, we got this <3

Hi all,

Stumbled across this thread whilst doing some research after recently being diagnosed as  a D508F carrier.

I'm actually 46 and had no idea I had this, always been (and still am) very healthy, no digestive, respiratory, pancreatic or sinus issues whatsoever. Only issue I have which I am loosely linking to the 'condition' is infertility which I read could be caused by excessive mucus thickness blocking the ejaculatory duct and thus preventing sufficient viable sperm from progressing adequately from the testes. Unlike males with CF (as I understand), I have fully developed vas deferens. I haven't any confirmation that this is the cause or indeed related, I've just drawn my own conclusion from reading (which isn't very scientific obviously).

In terms of family history, nothing that I'm aware of, neither parents nor siblings have displayed any of the symptoms listed in this thread. Both my brother and sister have produced children of their own without medical assistance.

 

hello there,

I did not know i was a carrier for cf until i was pregnant with my first baby at age 29.  I got bronchitis a few times in my youth and have suffered with irritable bowel on and off, but i am a pretty healthy person. After my husband was cleared as not being a carrier, we went on to have child number 2, and then 3.  After child number three, i was notified that her heelprick test came back CF positive.  She had no infant symptoms.  She carries the f508 gene and also has some mutated genes that may or may not effect that one.

I have been blessed with wonderful Drs both at Stanford Childrens and Cincinnati Childrens.   And as of to date, she is 3, and has never had an issue with anything.  What i have learned is that they don't know how or which other genes on your f508 efect it, and your lung function, and digestion.  But they have only been testing for these mutations for about 3-4 years in babies.  So many of you carrier adults out there with problematic symptoms may want to have your dna run for these mutations.  I know that they are having lots of success with some of the enzymes for digestion and some inhaled steroids for lung issues.

I was told my daughter may never have a lung issue or may develop symptoms in her 70s, 80's or anywhere in between.    I am hoping for the best for her, and for all of you out there! Take care.