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diagnosed at what age?
- Thread starter anonymous
- Start date
NoDayButToday
New member
1. Suspected prenatally because of a blockage visible on a sonogram, confirmed with sweat test in infancy
2. Yes it is possible to have only respiratory and no digestive, and vice versa.
2. Yes it is possible to have only respiratory and no digestive, and vice versa.
thefrogprincess
New member
My brother was born with a ruptured colon due to obstruction. He was diagnosed around 6 months, I was diagnosed at birth because they already knew he had it.
1. When my husband was born in 80 ultrasounds weren't accurate or even used that much. He was diagnosed at 18 months with respiratory problems and failure to thrive (weight loss, inability to gain weight...) via a sweat test. All his medical records state he is a Double Delta F508 but we have never been able to track down a lab (back then they might have just picked it because it was one of the few that were known) so we are actually doing a genetic test within the next few weeks. So back to the question (Was kind of trying to give you a scenario) it can be diagnosed by a sweat test then confirmed by genetic testing, more often genetic testing is to confirm or deny a borderline sweat test.
2. Some mutations have been thought to affect different things. There is still research going on about this and I am sure it will be years before they have a clearer picture of what causes what. But as coll said, it is possible to have one are affected without the others being affected, or a combination. Another big thing people don't seem to mention often or maybe don't even know is that CF affects the male reproductive tract (the Vas Defrerens more specifically) in about 98-99% of males with CF. And in some males with CF (and some carriers too) it is the ONLY indication that they have CF.
I am not sure if you are asking your questions for a personal situation or maybe a paper or something so I hope what I wrote makes sense to you, but if you have any additional questions-don't hesitate to ask them; it's why we are all here.
Julie (wife to Mark 24 w/CF)
2. Some mutations have been thought to affect different things. There is still research going on about this and I am sure it will be years before they have a clearer picture of what causes what. But as coll said, it is possible to have one are affected without the others being affected, or a combination. Another big thing people don't seem to mention often or maybe don't even know is that CF affects the male reproductive tract (the Vas Defrerens more specifically) in about 98-99% of males with CF. And in some males with CF (and some carriers too) it is the ONLY indication that they have CF.
I am not sure if you are asking your questions for a personal situation or maybe a paper or something so I hope what I wrote makes sense to you, but if you have any additional questions-don't hesitate to ask them; it's why we are all here.
Julie (wife to Mark 24 w/CF)
I am 31 w/CF and also have a brother who is 24 w/CF. We both are a double delta F508. I was diagnosed at just a few weeks old...and my brother at birth...because of me. Because of the different mutations of CF...there are so many different possibilities of the problems as well as the severities. One can have respiratory problems without digestive as well as the opposite. It is such a difficult disease that it is hard to say how it is going to affect each person. There are certain mutations linked with certain problems...but severity cannot be known.
Dea
Dea
1.) My husband was diagnosed at age 42. originally told he was a carrier because even with 2 mutations he had an ok sweat test.
2.) the only sympton he has is absence of vas deferens. He found out about all this when after infertility treatment his daughter started to show symptoms. He was misdiagnosed as a carrier and now is worring for his children.
Wishing the best
Kathy
2.) the only sympton he has is absence of vas deferens. He found out about all this when after infertility treatment his daughter started to show symptoms. He was misdiagnosed as a carrier and now is worring for his children.
Wishing the best
Kathy
Thank you to all of you that took the time to answer me. I appreciate all of the information and sharing personal experiences.
I have a cousin that was diagnosed with CF about 10 years ago, when he was about 2 1/2, because of failure to thrive. No one in my family knew we could be carriers until then. I immediately had my son, age 1, tested. His test was negative, so I never tested myself (as a carrier).
Now, my daughter is now 4, and has been coughing alot, even when nothing else seems wrong. She wakes up at night (almost always around 3a-4a) and is gagging and feeling like she needs to throw up. She doesn't seem to have any digestive problems, and is normal weight for her age. (that's why I was curious if you could have one symptom without the other.)
I am going to take her to the dr and ask for a sweat test for her. I wish I would have done it sooner, but I knew her digestive system seemed OK, and didn't realize you could have 1 sympton without the other.
Best of luck to each of you!
I have a cousin that was diagnosed with CF about 10 years ago, when he was about 2 1/2, because of failure to thrive. No one in my family knew we could be carriers until then. I immediately had my son, age 1, tested. His test was negative, so I never tested myself (as a carrier).
Now, my daughter is now 4, and has been coughing alot, even when nothing else seems wrong. She wakes up at night (almost always around 3a-4a) and is gagging and feeling like she needs to throw up. She doesn't seem to have any digestive problems, and is normal weight for her age. (that's why I was curious if you could have one symptom without the other.)
I am going to take her to the dr and ask for a sweat test for her. I wish I would have done it sooner, but I knew her digestive system seemed OK, and didn't realize you could have 1 sympton without the other.
Best of luck to each of you!
Hi, i'm a mum of a 1 1/2 year old that was told six weeks after my sons birth that he could have CF. Never, ever did this occur to either of us. I'm a nurse and immediately freaked at the thought of my baby having such a life altering disease. We went for a sweat test (negative thank god), then genetic testing for my husband and I, my huasband has a common CF mutation, which my son also has - I though, have a very uncommon one and here in the state of Western Australia they don't test babies for the gene I carry. Talking to the geneticist, we were told that as my baby has been symptom free it was against medical practice to test him for the CF gene I carry. I was wondering what anyone thinks of that???? I know that the sweat test is very definitive but it's always in the back of my mind that maybe my baby will get sick. He gets the usual coughs/cold and I freak and have to stop my self from rushing him to the Dr's. Has anyone been in this situation?. I only have to wait another 16 1/2 years until he can get tested.
Honestly, I would talk to your dr again. My dr didn't want to test my son at first (this was for the sweat test). My cousin was diagnosed with it and it was a shock to our family, we had no idea any of us may carry the CF genes. The dr also said that my son didn't show symptoms, so he didn't think it was necessary. I told him I didn't care if it was necessary, I needed to know for certain for my own peace of mind. I said I would pay for the test if insurance didn't. He knew that I was serious, and he then ordered the test. It was negative, but now I know.
Your situation is different, and I don't know how much the testing would cost, (and I don't know about your insurance system there), but if it was a tremendous cost for your family, and would allow you peace of mind, I would do it.
Those that know more about the testing may have other, more professional/expert advice than I do...I am just going by my gut feelings...knowing that I feel better by knowing for sure.
Your situation is different, and I don't know how much the testing would cost, (and I don't know about your insurance system there), but if it was a tremendous cost for your family, and would allow you peace of mind, I would do it.
Those that know more about the testing may have other, more professional/expert advice than I do...I am just going by my gut feelings...knowing that I feel better by knowing for sure.
My two children were diagnosed at ages 16 ½ and 14 ½. Their mutations are delta F508 and 3849 +10kb. Neither one of them have had a lot of digestive problems. Both of them are thin, my son 5 10 140 pds and my daughter 59 124 pds. My son was diagnosed first and when they told us the news I said I know my daughter has CF too , because she was the one that always had the chronic cough and continually misdiagnosed as asthma or allergies causing the cough. She was diagnosed a month after my son. My son never was that sick he would get a bad cold maybe 2 times a year that required antibiotic. My daughter was always sick with and ear infection or sinus infection. They are now 20 and 22 and doing well living away at college. They are lucky enough to have and Adult CF clinic at the college they attend. (USC). We all felt very fortunate about have good care away from home.
Mom
2 kids with CF
Mom
2 kids with CF
2
2sickkids
Guest
My boys were diagnosed at 7mo and and at birth.
my son was diagnosed at 18months after two minor bouts of pneumonia and failure to thrive. He has not had any lung infections since diagnosis three years ago and is now in the 50th percentile for weight. His only problem has been polyps in his nose which were removed with his tonsils and adenoids.
Hi There,
My son was diagnosed at 2 weeks old, thanks to a newborn screening program in our country.
He has Delta f508 and R560t mutation.
He does have digestive issues mostly and we are doing well in terms of respiratory health.
He is 2 years old now and is in 97th % height and 50th for weight.
Rebekah
Mother to Matt 2yrs w/CF
My son was diagnosed at 2 weeks old, thanks to a newborn screening program in our country.
He has Delta f508 and R560t mutation.
He does have digestive issues mostly and we are doing well in terms of respiratory health.
He is 2 years old now and is in 97th % height and 50th for weight.
Rebekah
Mother to Matt 2yrs w/CF
My son was diagnosed at 10 days of birth. He was born on 1/28/05. My husband and I had not idea we were carriers.
I have been told that you can have respiratory issues without GI and vice versa however, depending on the gene pair, you may eventually have the full gamut of problems. (This came from my sons CF doctor).
I have been told that you can have respiratory issues without GI and vice versa however, depending on the gene pair, you may eventually have the full gamut of problems. (This came from my sons CF doctor).
my daughter was unwell as ababy and we had to rush her in to hospital they said it was just a chest infection , she stoped breethin and went blue.
i had her at the doctors so many times and finally one sugested to see a specalist............which i pushed for. because she was always coughing
they done a sweat test which i didnt know anything about
then we were hit with the fact my daughter has cf and that was after 3 years of them tellin me she was just prone to colds because when she was a baby.
So it hit us hard.
that was a year ago and she is doin great you realy wouldnt know she had cf
She is tall for her age and she takes about 6 creon aday so her weight is bang on
its hard when u find out but i found there is no good in dwelling on it..........just got to my best for her!
take care
i had her at the doctors so many times and finally one sugested to see a specalist............which i pushed for. because she was always coughing
they done a sweat test which i didnt know anything about
then we were hit with the fact my daughter has cf and that was after 3 years of them tellin me she was just prone to colds because when she was a baby.
So it hit us hard.
that was a year ago and she is doin great you realy wouldnt know she had cf
She is tall for her age and she takes about 6 creon aday so her weight is bang on
its hard when u find out but i found there is no good in dwelling on it..........just got to my best for her!
take care
My son is 15mos and I have questions. He has constantly had ear infections after one another. He constantly has a raspy sound in his chest, runny nose and cough. Has some breathing problems out of the blue that doctor says is allergies. Takes breathing treatments to get by those situations, but I still feel that he cannot be sick like this all the time, it seems like there should be some other explanation. The breathing episodes scare me when they happen, and I just think that he shouldn't have cold symptoms all the time????????