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Unclear situation with cf diagnostic
- Thread starter EvitaZv
- Start date
LittleLab4CF
Super Moderator
Evita,
<strong>Your daughter shows symptoms of lung and gastro-intestinal symptoms and a positive sweat test. Demand your CF specialist treat your daughter for CF. Also have your son take a sweat test. This is the simple answer. If you want to challenge your English, read on’ </strong>
You have described symptoms of a person with CF. The 60+ sweat test along with your child’s serious health problems should be considered positive for CF. Judging from the limits of medicine available in your country, a full genetic analysis may not be available. Possibly if your country has a medical university, they may be able to do a more comprehensive test. A teaching hospital could access high quality genetic tests, even if they send it out of the country. A quality test would test for at least 1,400 mutations. The term mutation is a little misleading with CF genetics. A mutation is DNA code that gets jumbled up like: AAGTTCC is correct but: AGATCTC is out of sequence and therefore a mutation. Included in the general term, mutation, are deletions and repeats. There are some others but are not germane. A deletion would be comparing these two sequences the first being correct, the second with a deletion: GATTACA GAACA missing the two “Ts”. A repeat, called a polymorphism, is a command repeated, or has multiple repeats, generally of a single DNA ladder wrung: AAGGTTCC AAGGTTTTTTTTC. These were not believed to contribute to the CF disease process, but more research and more CF specialists are seeing a consistent pattern the repeated command mutation.
Genetic testing is really fantastic, but ultimately it will not help your daughter, or possibly your son. There is a promising future for CF genetics, but this is not your current concern. Unless you have some kind of insurance or nationalized health care only the most medically advanced countries can offer a full CFTR genetic test of 1,856 mutations could cost thousands of dollars. I am sure you know this but cystic fibrosis (CF) is a disorder of the Transmembrane Regulator (TR) Gene. CF is often referred in genetics as the CFTR gene mutation. The Delta D508 was the first discovery and subsequent research showed that two people with at least one CFTR gene mutation each could have a CF child. The gene was found to be recessive, so both parents had to contribute one identical mutation in order for a child to have CF. If the explanation I just gave tells you nothing more than to say CF genetics has turned out to be far more complicated than was firmly believed until the last couple of years. It is like CF genetics is starting over because so much we have learned doesn’t fit with the initial science. This is normal for research.
Your daughter shows strong evidence of CF. Her sweat test, although doctors would feel safer if the number was closer to 90 than 60, but 30 to 60 is a positive range, in conjunction with the symptoms. 60 to 90 a full to over flowing purse. If you look to the right of my post, you will be able to send me a private message. If you want higher sweat test numbers, she needs to train herself to sweat. I have gone over this too many times to waste space in a post so if this is of interest, PM me. The average person could run around a block and would have mildly moist skin. A professional runner, at the same pace as you would be seating a lot. It sounds so silly, but to properly sweat, especially with CF, up a person needs to.
<strong>Your daughter shows symptoms of lung and gastro-intestinal symptoms and a positive sweat test. Demand your CF specialist treat your daughter for CF. Also have your son take a sweat test. This is the simple answer. If you want to challenge your English, read on’ </strong>
You have described symptoms of a person with CF. The 60+ sweat test along with your child’s serious health problems should be considered positive for CF. Judging from the limits of medicine available in your country, a full genetic analysis may not be available. Possibly if your country has a medical university, they may be able to do a more comprehensive test. A teaching hospital could access high quality genetic tests, even if they send it out of the country. A quality test would test for at least 1,400 mutations. The term mutation is a little misleading with CF genetics. A mutation is DNA code that gets jumbled up like: AAGTTCC is correct but: AGATCTC is out of sequence and therefore a mutation. Included in the general term, mutation, are deletions and repeats. There are some others but are not germane. A deletion would be comparing these two sequences the first being correct, the second with a deletion: GATTACA GAACA missing the two “Ts”. A repeat, called a polymorphism, is a command repeated, or has multiple repeats, generally of a single DNA ladder wrung: AAGGTTCC AAGGTTTTTTTTC. These were not believed to contribute to the CF disease process, but more research and more CF specialists are seeing a consistent pattern the repeated command mutation.
Genetic testing is really fantastic, but ultimately it will not help your daughter, or possibly your son. There is a promising future for CF genetics, but this is not your current concern. Unless you have some kind of insurance or nationalized health care only the most medically advanced countries can offer a full CFTR genetic test of 1,856 mutations could cost thousands of dollars. I am sure you know this but cystic fibrosis (CF) is a disorder of the Transmembrane Regulator (TR) Gene. CF is often referred in genetics as the CFTR gene mutation. The Delta D508 was the first discovery and subsequent research showed that two people with at least one CFTR gene mutation each could have a CF child. The gene was found to be recessive, so both parents had to contribute one identical mutation in order for a child to have CF. If the explanation I just gave tells you nothing more than to say CF genetics has turned out to be far more complicated than was firmly believed until the last couple of years. It is like CF genetics is starting over because so much we have learned doesn’t fit with the initial science. This is normal for research.
Your daughter shows strong evidence of CF. Her sweat test, although doctors would feel safer if the number was closer to 90 than 60, but 30 to 60 is a positive range, in conjunction with the symptoms. 60 to 90 a full to over flowing purse. If you look to the right of my post, you will be able to send me a private message. If you want higher sweat test numbers, she needs to train herself to sweat. I have gone over this too many times to waste space in a post so if this is of interest, PM me. The average person could run around a block and would have mildly moist skin. A professional runner, at the same pace as you would be seating a lot. It sounds so silly, but to properly sweat, especially with CF, up a person needs to.
JustaCFmom
New member
It has been a while since you posted anything. How is your daughter?