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Old 04-05-2006, 06:48 AM   #1
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Son diagnosed with CF gene

My son was just diagnosed with the CF gene, but we cannot get him tested for CF now due to medical limitations. We were having him looked at for growth issues, and he has a persistent cough, so the doctor screened him for CF. He came back positive for the gene. We do not know how to take this.

We live aboard, in a third world country that is known for its horrible pollution. Our son has a dry cough that is only occasionally there, but persistent enough that it is noticed. Heís never been hospitalized for anything and never has had serious respiratory problems, but has gotten what can only be called colds frequently. We just thought it was the bad air, but now we are not sure. His chest colds, while frequent, are never severe and he runs around screaming even when sick.

Additionally he is small for his age. I am not sure how to interpret this. His mother, and mine incidentally, are both small people, and we took him to a doctor who thinks his height is genetic (his bone age x-ray was only a few months off his actual age). He is also a poor eater, what we thought was the problem when we had him checked out.

Lastly, he does not seem to have stool problems, which is symptomatic of CF.

We do not know what to think. He could be a carrier, but there is just enough in the ďmaybeĒ category with symptoms to make us wonder. We cannot find anyone with experience in these matters however. Can anyone offer advice?

 
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Old 04-05-2006, 09:20 AM   #2
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Re: Son diagnosed with CF gene

I guess I don't really understand what you mean about your son being "diagnosed with the CF gene." If you have one copy of the gene you are a carrier. If you have 2 (one from each parent) then you have CF. What sort of tests did they do? Typically CF is diagnosed with a sweat test which measures the amount of chloride in your sweat. A high result indicates CF. Or you can be diagnosed by a genetic blood test which looks at your DNA.

 
Old 04-07-2006, 10:39 AM   #3
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Re: Son diagnosed with CF gene

You need to find out immediately what the results mean. Testing positive for the CF gene could mean he's a carrier, or that he does in fact have CF. Please ask whether they found 2 copies or 1. You'll need to contact the doctor and ask specific questions.

What would prohibit you from getting a sweat test- is it not available where you live?

You do not have to have bowel problems to have CF, my son did not.

Please don't wait, if your child has CF he needs enzymes to properly break down food, he'll need proper meds for his cough.

Just reading your post: the pollution, the whole family is small, no bowel problems, is making me think you are trying very hard to come up with all the reasons why it isnt CF. That is not going to help your child- there are DEFINATIVE tests that tell you YES or NO- let the test results determine the truth.

Please type in CYstic Fibrosis on your search engine along with the country you live and get answers quickly.

 
Old 04-07-2006, 10:19 PM   #4
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Re: Son diagnosed with CF gene

The results we received simply indicated that the gene was present, but no indication of a double or single gene. Additionally the sweat-chloride test is unavailable here. In fact very little is available here.

The problem is that I think we are getting worked up for nothing. We are both concerned, but I really do not see anything definitive, which makes me wonder. . Weíre going to be about two months without getting to a knowledgeable doctor, and I do not want to put ourselves through hell without reason.

His symptoms, if he has CF, are mild enough to escape several specialists, and I donít know if this is possible. Could he have such a mild case of CF that no one has noticed anything at all until now?

 
Old 04-10-2006, 05:25 AM   #5
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Re: Son diagnosed with CF gene

My son had two negative sweat tests but when they did the gentic tests he came back wit three polymorphisims. They give the patient some symptoms of cf, called variant cf but it is not considered a full blown cf case. Did your son come back with any positive variants or polymorphisims?

 
Old 04-10-2006, 08:52 AM   #6
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Re: Son diagnosed with CF gene

Yes it is possible to have been missed this far. Some people have not been diagnosed until they were adults. What tests did they do to find the gene? I would continue to try and get some answers.

 
Old 04-10-2006, 06:30 PM   #7
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Re: Son diagnosed with CF gene

If your son has CF, that would mean that both you and his mother would be carriers of the CF gene. My sons dad has a cousin who has CF, so before I got pregnant with my son, my sons dad had a test to see if he was a carrier of the gene! he was, so I had a check, I wasn't a carrier, so my son although he may have the faulty gene passed from his dad, he hasn't CF.

He (the dad) has always had problems with coughs, bronchitis, smoke allergies etc. although doctors say it is nothing to do with the fact his is carrying the faulty gene, we have always assumed that because he is a carrier that is why he has a tendancie to sensitive lungs.

For someone to get CF firstly both parents have to be a carrier of the faulty gene! If and when he has children in the future, it would be a good idea for his partner to check out if she is/or not a carrier to try and establish risks etc.

I hope the above makes sense.

Last edited by SOAPFLAKE; 04-10-2006 at 06:33 PM.

 
Old 04-15-2006, 05:43 AM   #8
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Re: Son diagnosed with CF gene

In all the only answer I can give is I don't know. We went for a series of tests related to development delays. My wife is a special education specialist, which is both good an bad. She recognizes even the slightest delay in milestones, and my son is delayed. In reality sometimes she uses her clinical eye and not her maternal one. Our child seems exceptionally healthy except for some poor eating and the chronic cough. We went to look into some growth issues and the two flags we mentioned, the cough, coupled with the growth delay led the doctor to look for the CF gene. We went to another country for the appointment, and all we have to go on is that the Dr. called and said there was an anomaly on the genetic test.

This is frustratingly vague. What is an ďanomaly?Ē

My son has what are called sensory problems, which means his brain filters, or does not filter in his case, information. When you listen to a seashell you hear the reflected noise of your own blood flow in your ear, not the ocean. Ironically you hear this all of the time, but your brain simply turns the signal off. In sensory cases some signals are not shut off or are not filtered properly. Everyone has these, this is why some people need quiet to study or donít like particular feelings. I personally cannot stand tongue depressors on my tongue. It drives me crazy.

So we know he has sensory issues, and part of his eating problem derives from not liking the texture of foods. This is what I assumed was the problem with his growth, his dislike of eating. Oddly enough his weight is higher than his height on the scales. Additionally we have some short people in my family, so he could simply be short genetically.

The doctor, who had never seen my son before the day he showed up, simply went by us telling her he had a persistent cough, my wife telling her my son had frequent chest colds, and the poor growth.

While true some of this is exaggerated. My son has a lot of URIís on record, but whenever he gets a cold my wife takes him in, and the default diagnosis for cough and runny nose is the URI. He has rarely been sick enough to even be lethargic, he still runs around playing, jumping, and screaming, even when sick. So this metric was skewed. Likewise his growth does not seem to be CF related as the stool issues do not exist and his eating seems more related to texture with food rather than digestive issues.

I think he has an anomaly, but nothing in his health, activities, or symptoms would support the diagnosis. I think it was a shot in the dark that found he was a carrier by accident, but has gotten us worried for nothing. We have to wait for about 2 months before we can return stateside, and Iím just trying to reason out what is going on. He simply seems like an energetic, healthy child, a very picky eater, and a child who lives in some of the worst pollution in the world.

 
Old 04-16-2006, 05:43 PM   #9
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Re: Son diagnosed with CF gene

Not to scare you or anything but on DNA testing I show up as a carrier of the DF508 mutation, in reality I have CF.

Genetics testing does not tell the whole story and there are VERY few labs that test for anywhere near all known mutations. There are thousands.

I tested positive on the sweat test and have clinical symptoms, therefore I carry a diagnosis of CF. Maybe one day they will identify my other mutation

So you can have CF and show up as a carrier on DNA testing.

They are discovering also that the CFTR gene doesn't tell the whole story and have realized that there is something called non CFTR related CF

 
Old 04-16-2006, 06:23 PM   #10
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Re: Son diagnosed with CF gene

Obviously if you have been diagnosed with CF you are a carrier of the disease!

If you then went onto have children, you would only (possibly, not always)pass on the CF if the other partner also carried the gene. But that said if the other partner did not carry the faulty gene than the child or children would not get CF but may get the faulty gene passed on to them.Then the circle continues.

You need to have the faulty gene passed to you from BOTH parents to have CF. and if you have CF you will obviously be a carrier, it doesn't mean if you are a carrier you have CF.

I hope that makes sense!

 
Old 04-17-2006, 11:25 AM   #11
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Re: Son diagnosed with CF gene

From what the Dr. told us, our son could just be a carrier, so I don't know what the situation is. We're in the military, and the hospital is used to treating Iraq wounded, so I doubt they have a considerable CF analysis program.

What would we see? Is it possible to have an extremely mild case of CF? I thought he would have to have some sort of symptoms, and he does not seem to have any, or at least nothing to merit concern.

 
Old 04-17-2006, 11:43 AM   #12
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Re: Son diagnosed with CF gene

It is entirely possible that he is just a carrier but you need to find out for sure. I understand that you don't have access to great health care but when you get back to the states you should have this checked out further. It is possible to have "mild" cf. The 3rd of our kids was diagnosed at birth. We had no prior knowledge of us being carriers. Because of our 3rd's CF we now need to get the other 2 tested even though they have no symptoms. Its probably not something you need to stress out about, he'll probavly be fine to wait till you get back. But if it were me, I would not assume that he was fine until I knew for sure.

 
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