How do they know?

K

katie4byz

New member
If one gene is found and another is'nt is that to say the other gene is unknown or there is only the one gene??
 
K

katie4byz

New member
If one gene is found and another is'nt is that to say the other gene is unknown or there is only the one gene??
 
P

Printer

Active member
According to Mayo Clinic, there are more than 1800 known mutations. There may be more mutations that are still unknown.

All that can be done is to run a FULL CF SEQUENCING. Katie how many mutations did they scan for?

Bill
 
P

Printer

Active member
According to Mayo Clinic, there are more than 1800 known mutations. There may be more mutations that are still unknown.

All that can be done is to run a FULL CF SEQUENCING. Katie how many mutations did they scan for?

Bill
 
K

katie4byz

New member
I have no idea they don't seem to be telling me much and I don't know what to ask, is the Delta f508 a gene or a mutation or are they the same thing? I was just wondering if with 3 boarderline sweat tests and a bad chest with one gene will he get a full diagnosis?
I am there on thursday so I intend on asking many questions.
 
K

katie4byz

New member
I have no idea they don't seem to be telling me much and I don't know what to ask, is the Delta f508 a gene or a mutation or are they the same thing? I was just wondering if with 3 boarderline sweat tests and a bad chest with one gene will he get a full diagnosis?
I am there on thursday so I intend on asking many questions.
 
P

Printer

Active member
Delta F508 is a mutation. It is the MOST COMMON of all mutations. There are over 1800 mutations on the CF Gene.

Ask for a FULL CF SEQUENCING for 1900 mutations.

Bill
 
P

Printer

Active member
Delta F508 is a mutation. It is the MOST COMMON of all mutations. There are over 1800 mutations on the CF Gene.

Ask for a FULL CF SEQUENCING for 1900 mutations.

Bill
 
K

katie4byz

New member
I will ask, so if they dont find another mutation is that to say that its unknown or he only has the one mutation?
 
M

Mommafirst

Guest
If he has symptoms, an elevated sweat and one gene they could very well diagnose and assume an unknown mutation at this point. They could also call it CRMS -- Cystic fibrosis trans regulator Related Metabolic Syndrome. This seems to be a "holding tank" for those that don't have enough to be diagnosed but they still want to watch and see what happens.
 
M

Mommafirst

Guest
If he has symptoms, an elevated sweat and one gene they could very well diagnose and assume an unknown mutation at this point. They could also call it CRMS -- Cystic fibrosis trans regulator Related Metabolic Syndrome. This seems to be a "holding tank" for those that don't have enough to be diagnosed but they still want to watch and see what happens.
 
K

katie4byz

New member
Ok thank you for that, I am there on Thursday so will see what they say, last time he said he did'nt want to diagnose 'yet' and that was before they knew he had Delta F508 just its all so confusing I don't know what to make of it.
 
K

katie4byz

New member
Ok thank you for that, I am there on Thursday so will see what they say, last time he said he did'nt want to diagnose 'yet' and that was before they knew he had Delta F508 just its all so confusing I don't know what to make of it.
 
T

TeamRhianna

New member
Its a scary thing to go through with your kids. And its complicated. Ask for some literature that you can read on your own time. I found that very helpful. My 4month old daughter has the df508 and p.133k.
 
T

TeamRhianna

New member
Its a scary thing to go through with your kids. And its complicated. Ask for some literature that you can read on your own time. I found that very helpful. My 4month old daughter has the df508 and p.133k.
 
T

thekidsarealright

New member
If you want to watch this video, it is very helpful. It's a bit basic, but basic is the best place to start!

http://www.nlm.nih.gov/medlineplus/tutorials/cysticfibrosis/htm/_no_50_no_0.htm

CF is confusing and there's a LOT that is still unknown about it. I've been "exposing" myself to CF info for a long time and am constantly amazed at the complexity of it. Due to the effects that CF has on so many body systems and the dizzying amount of different mutations and gene combo's that there are, I really don't think that all will be known about CF anytime soon, if ever.
I'm sorry. I know it's scary, but humans have a magnificent way of learning to cope with even the most daunting situations, as most of us have on this site. It doesn't make it less scary, but knowledge alleviates some of the anxiety.
Anyway, good luck with your son and good luck with your search for answers.


A. N. Ard
 
T

thekidsarealright

New member
If you want to watch this video, it is very helpful. It's a bit basic, but basic is the best place to start!

http://www.nlm.nih.gov/medlineplus/tutorials/cysticfibrosis/htm/_no_50_no_0.htm

CF is confusing and there's a LOT that is still unknown about it. I've been "exposing" myself to CF info for a long time and am constantly amazed at the complexity of it. Due to the effects that CF has on so many body systems and the dizzying amount of different mutations and gene combo's that there are, I really don't think that all will be known about CF anytime soon, if ever.
I'm sorry. I know it's scary, but humans have a magnificent way of learning to cope with even the most daunting situations, as most of us have on this site. It doesn't make it less scary, but knowledge alleviates some of the anxiety.
Anyway, good luck with your son and good luck with your search for answers.


A. N. Ard
 
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