Can somebody tell me...

L

laciandgabesmumma

New member
My daugher Laci is 6 years old and has CF. She was diagnosed when she was exactly one month old. Her doctor's told me that she has 2 copies of the Delta f508. I don't really understand what that means. What is the difference between somebody having 1 or 2 copies of something? If she has 2 copies is she worse off, better off, the same?
Can anybody help me understand this? Thanks in advance!

-Lindsay
 
L

laciandgabesmumma

New member
My daugher Laci is 6 years old and has CF. She was diagnosed when she was exactly one month old. Her doctor's told me that she has 2 copies of the Delta f508. I don't really understand what that means. What is the difference between somebody having 1 or 2 copies of something? If she has 2 copies is she worse off, better off, the same?
Can anybody help me understand this? Thanks in advance!

-Lindsay
 
J

jendonl

New member
In order to have CF, you must have two defective genes. Two copies of DF508 just means that both defective genes are the same. There are over 1200 different defects that can cause CF. DF508 is the most common.
 
J

jendonl

New member
In order to have CF, you must have two defective genes. Two copies of DF508 just means that both defective genes are the same. There are over 1200 different defects that can cause CF. DF508 is the most common.
 
A

amber682

New member
In order to have cystic fibrosis, a person needs to have a mutated gene from each parent. Your daughter has the f508 mutation from each parent. That means each parent is a carrier of the f508 mutation.
 
A

amber682

New member
In order to have cystic fibrosis, a person needs to have a mutated gene from each parent. Your daughter has the f508 mutation from each parent. That means each parent is a carrier of the f508 mutation.
 
P

Printer

Active member
For your daughter to have been dx 6 years ago and for you to not have a TOTAL understanding of 2 mutations is a concern. I suspect that your daughter is NOT being treated by a CF SPECIALIST at a APPROVED CF CENTER.

It is EXTREMELY important that your DD se a Specialist an that you take advantage of the CF education available there.

Bill
 
P

Printer

Active member
For your daughter to have been dx 6 years ago and for you to not have a TOTAL understanding of 2 mutations is a concern. I suspect that your daughter is NOT being treated by a CF SPECIALIST at a APPROVED CF CENTER.

It is EXTREMELY important that your DD se a Specialist an that you take advantage of the CF education available there.

Bill
 
T

TerriC

Guest
I disagree that because you do not know the CF mutation you are not at a reputable CF centre. My daughters are 25 and 23 and I still don't know which mutation they have. We live in Toronto and have some of the best CF doctors in the world treating my girls. I just don't believe it was ever that big of an issue that we had to know this information. I know it is available if I want it but up until now - not knowing has not made one bit of difference in their health. I know that now because of the new drugs being tested, we will have to know but I am also confident in our doctor's making sure the girlsget the right drugs for the mutations they have.
 
T

TerriC

Guest
I disagree that because you do not know the CF mutation you are not at a reputable CF centre. My daughters are 25 and 23 and I still don't know which mutation they have. We live in Toronto and have some of the best CF doctors in the world treating my girls. I just don't believe it was ever that big of an issue that we had to know this information. I know it is available if I want it but up until now - not knowing has not made one bit of difference in their health. I know that now because of the new drugs being tested, we will have to know but I am also confident in our doctor's making sure the girlsget the right drugs for the mutations they have.
 
J

justdance

New member
<em>Here is my intro to genetics...if you are interested read on, if not it may work as a sleep inducer <img src="i/expressions/face-icon-small-smile.gif" border="0"></em>
Hi, you might find it interesting to learn a little about "Simple Mendelian Genetics". This is the way genes are passed from each parent to the off-spring and is responsible for many, many characteristics, such as eye colour, height and certain diseases such as haemophilia and cystic fibrosis.
If you imagine you have 46 chromosomes in <em>every cell</em> of your body; these are little strings containing allyour genetic information. Each cell contains the genetic info for everything in your body. So the cells in your kidneys have the genes for eye colour, but those genes are switched off. The strings join up into pairs making 23 "chromosome pairs".
In the <em>sex cells</em> you only have 23 of these strings. So, when a sperm and egg cell fuse you get back to the number 46 in the embryo, and these cells divide and divide into cells each containing 46 chromosome strings.In this way a brand newindividual is created when a sperm and egg cell fuse.
There is a certain chromosome pair in every cell (pair number 7 I think) and on each of the chromosome strings there is a gene responsible for trafficking sodium chloride (salt) from inside the cell to the outside. One gene is on the string passed from the father and one gene is on the string passed from the mother.In a person with CF, there is a fault or mutation in this gene <strong>on each string</strong>. If the fault is only onthe gene of one string then the person is a carrierand does not have CF.There are over 1800 ways the gene can be mutated or faulty. The fault called DF508 is the most common. The genes on each string can be the same (homozygous) or different (heterozygous). There are different schools of thought relating to whether or not the type of gene (genotype) affects the health outcome of the person (phenotype).
Note that in a carrier (someone with the faulty gene only on one string in pair number 7), their sex cells will be split 50:50 into strings carrying a faulty gene and strings carrying a working gene. When they procreate with a non-carrier, there is a 1-in-4 chance of passing on the faulty gene, in which case1 in 4 childrenwill also be carriers. That couple will not produce a child with CF. If the carrier procreates with another carrier, there is a 1-in-4 chance of the child having CF, 1-in-4 chance of being a carrier and 1-in-2 chance of having nothing at all, meaning two working genes.
To answer your question- when the docs talk about the "two genes", this is not surprising, it is the very reason your daughter has CF and it says nothing about how severe/ mild her outcome will be.Personally I find this fascinating and I would recommend you look into it, but that is just a personal preference.
I am adding a link below to a youtube video on Mendelian genetics, I find it interesting...maybe that's the nerd in me <img src="i/expressions/face-icon-small-smile.gif" border="0">
<a href="http://www.youtube.com/watch?v=NWqgZUnJdAY">http://www.youtube.com/watch?v=NWqgZUnJdAY</a>
 
J

justdance

New member
<em>Here is my intro to genetics...if you are interested read on, if not it may work as a sleep inducer <img src="i/expressions/face-icon-small-smile.gif" border="0"></em>
Hi, you might find it interesting to learn a little about "Simple Mendelian Genetics". This is the way genes are passed from each parent to the off-spring and is responsible for many, many characteristics, such as eye colour, height and certain diseases such as haemophilia and cystic fibrosis.
If you imagine you have 46 chromosomes in <em>every cell</em> of your body; these are little strings containing allyour genetic information. Each cell contains the genetic info for everything in your body. So the cells in your kidneys have the genes for eye colour, but those genes are switched off. The strings join up into pairs making 23 "chromosome pairs".
In the <em>sex cells</em> you only have 23 of these strings. So, when a sperm and egg cell fuse you get back to the number 46 in the embryo, and these cells divide and divide into cells each containing 46 chromosome strings.In this way a brand newindividual is created when a sperm and egg cell fuse.
There is a certain chromosome pair in every cell (pair number 7 I think) and on each of the chromosome strings there is a gene responsible for trafficking sodium chloride (salt) from inside the cell to the outside. One gene is on the string passed from the father and one gene is on the string passed from the mother.In a person with CF, there is a fault or mutation in this gene <strong>on each string</strong>. If the fault is only onthe gene of one string then the person is a carrierand does not have CF.There are over 1800 ways the gene can be mutated or faulty. The fault called DF508 is the most common. The genes on each string can be the same (homozygous) or different (heterozygous). There are different schools of thought relating to whether or not the type of gene (genotype) affects the health outcome of the person (phenotype).
Note that in a carrier (someone with the faulty gene only on one string in pair number 7), their sex cells will be split 50:50 into strings carrying a faulty gene and strings carrying a working gene. When they procreate with a non-carrier, there is a 1-in-4 chance of passing on the faulty gene, in which case1 in 4 childrenwill also be carriers. That couple will not produce a child with CF. If the carrier procreates with another carrier, there is a 1-in-4 chance of the child having CF, 1-in-4 chance of being a carrier and 1-in-2 chance of having nothing at all, meaning two working genes.
To answer your question- when the docs talk about the "two genes", this is not surprising, it is the very reason your daughter has CF and it says nothing about how severe/ mild her outcome will be.Personally I find this fascinating and I would recommend you look into it, but that is just a personal preference.
I am adding a link below to a youtube video on Mendelian genetics, I find it interesting...maybe that's the nerd in me <img src="i/expressions/face-icon-small-smile.gif" border="0">
<a href="http://www.youtube.com/watch?v=NWqgZUnJdAY">http://www.youtube.com/watch?v=NWqgZUnJdAY</a>
 
P

Printer

Active member
TerriC:

I think that you misunderstood my post. She knows that her DD is Double Delta F508. She dosen't know what having 1 or 2 mutations means.

Her child, like all CF Patients, deserves to get the best care available. That care is at an APPROVED CF CENTER by an CF SPECIALIST.

Bill
 
P

Printer

Active member
TerriC:

I think that you misunderstood my post. She knows that her DD is Double Delta F508. She dosen't know what having 1 or 2 mutations means.

Her child, like all CF Patients, deserves to get the best care available. That care is at an APPROVED CF CENTER by an CF SPECIALIST.

Bill
 
P

Printer

Active member
laciand gabsmum:

It also means that your son, while not being dx with CF, has a minimum chance of 50% for being a CF CARRIER.

Bill
 
P

Printer

Active member
laciand gabsmum:

It also means that your son, while not being dx with CF, has a minimum chance of 50% for being a CF CARRIER.

Bill
 
H

hmw

New member
Some CF Centers pass out into (especially right at the time of dx) in huge amounts and never pause long enough to answer questions or even see if we HAVE questions. It doesn't necessarily mean they don't provide excellent care- it's often an indication that the human side is somewhat lacking though- that their focus is more on day to day care and keeping healthy etc.

However, I do feel pretty strongly that we as parents need to be educated and learn what we can about this condition on our own as it's the only way we can effectively advocate for our children (or ourselves), the only way sometimes to get a full understanding of why the drs are making the decisions they are and help affirm all truly is being done that needs to be, and the only way to teach them how to effectively advocate for themselves as they grow older.

Oh and not to stray off course or split hairs, but to add to the genetics lesson-
Much of the 'mendelian' lesson was correct, but a few corrections need to be made. When a carrier has a child with a non-carrier, the non-carrier will of course pass on a healthy gene. The carrier will pass on either a faulty gene or a healthy gene, a 50/50 chance either way. Since a child must inherit a CFTR gene from each parent, there is a 50% chance the child of one carrier will be a carrier him/herself, not a 25% chance.

To simplify the genetic for the CFTR gene (located on chromosome 7), any child of two carriers will result in one of 4 scenarios:
25% chance of inheriting a defective gene from each parent (result: CF)
25% chance of inheriting a healthy gene from each parent (result: no cf, not a carrier)
50% chance of inheriting a defective gene from one parent and a healthy gene from the other- this represents two of the four possible outcomes- mom passing on mutation or dad (result: carrier)
 
H

hmw

New member
Some CF Centers pass out into (especially right at the time of dx) in huge amounts and never pause long enough to answer questions or even see if we HAVE questions. It doesn't necessarily mean they don't provide excellent care- it's often an indication that the human side is somewhat lacking though- that their focus is more on day to day care and keeping healthy etc.

However, I do feel pretty strongly that we as parents need to be educated and learn what we can about this condition on our own as it's the only way we can effectively advocate for our children (or ourselves), the only way sometimes to get a full understanding of why the drs are making the decisions they are and help affirm all truly is being done that needs to be, and the only way to teach them how to effectively advocate for themselves as they grow older.

Oh and not to stray off course or split hairs, but to add to the genetics lesson-
Much of the 'mendelian' lesson was correct, but a few corrections need to be made. When a carrier has a child with a non-carrier, the non-carrier will of course pass on a healthy gene. The carrier will pass on either a faulty gene or a healthy gene, a 50/50 chance either way. Since a child must inherit a CFTR gene from each parent, there is a 50% chance the child of one carrier will be a carrier him/herself, not a 25% chance.

To simplify the genetic for the CFTR gene (located on chromosome 7), any child of two carriers will result in one of 4 scenarios:
25% chance of inheriting a defective gene from each parent (result: CF)
25% chance of inheriting a healthy gene from each parent (result: no cf, not a carrier)
50% chance of inheriting a defective gene from one parent and a healthy gene from the other- this represents two of the four possible outcomes- mom passing on mutation or dad (result: carrier)
 
You must log in or register to reply here.
Top