CF Granddaughter: basic question

C

CeliacNana

New member
Our 4 week old granddaughter's CF diagnosis was confirmed today. I have been reading some of the websites but have a very basic question. I understand that to have full blown CF, both parents must be carriers.

My question is: if my son is a carrier, are both my husband and I carriers? Or can being a carrier be passed on by only one parent. Seems simple, I know, but just would like a confirmation.
 
C

CeliacNana

New member
Our 4 week old granddaughter's CF diagnosis was confirmed today. I have been reading some of the websites but have a very basic question. I understand that to have full blown CF, both parents must be carriers.

My question is: if my son is a carrier, are both my husband and I carriers? Or can being a carrier be passed on by only one parent. Seems simple, I know, but just would like a confirmation.
 
C

CeliacNana

New member
Our 4 week old granddaughter's CF diagnosis was confirmed today. I have been reading some of the websites but have a very basic question. I understand that to have full blown CF, both parents must be carriers.
<br />
<br />My question is: if my son is a carrier, are both my husband and I carriers? Or can being a carrier be passed on by only one parent. Seems simple, I know, but just would like a confirmation.
 
M

Mommafirst

Guest
If your son is a carrier, that means either you or your husband are a carrier. Its possible that both of you are carriers, but only one of you passed that on to your son.
 
M

Mommafirst

Guest
If your son is a carrier, that means either you or your husband are a carrier. Its possible that both of you are carriers, but only one of you passed that on to your son.
 
M

Mommafirst

Guest
If your son is a carrier, that means either you or your husband are a carrier. Its possible that both of you are carriers, but only one of you passed that on to your son.
 
K

ktsmom

New member
Hello and welcome to the site. I would imagine that you and your family are overwhelmed. There is a lot of good information here and at CFF.org. Please be careful of other things you might read on the web as some of the information can be out of date.

The term carrier means that a person has one "defective" CFTR gene and one normal gene. One is passed to the child. When a child receives a defective gene from each parent, that child has CF. Obviously both your son and daughter-in-law are carriers.

Your son received his defective gene from either you or his father. It is certainly possible that you each carry a defective gene. However only one of you passed it on to him.

Two carriers have an equal chance with each offspring of these outcomes:

25% chance of the child receiving two defective genes (child has CF)
25% chance of the child receiving two normal genes (no CF and not a carrier)
50% chance of the child receiving one normal and one defective (this child is a carrier)

Does that clear anything up or make it worse?
 
K

ktsmom

New member
Hello and welcome to the site. I would imagine that you and your family are overwhelmed. There is a lot of good information here and at CFF.org. Please be careful of other things you might read on the web as some of the information can be out of date.

The term carrier means that a person has one "defective" CFTR gene and one normal gene. One is passed to the child. When a child receives a defective gene from each parent, that child has CF. Obviously both your son and daughter-in-law are carriers.

Your son received his defective gene from either you or his father. It is certainly possible that you each carry a defective gene. However only one of you passed it on to him.

Two carriers have an equal chance with each offspring of these outcomes:

25% chance of the child receiving two defective genes (child has CF)
25% chance of the child receiving two normal genes (no CF and not a carrier)
50% chance of the child receiving one normal and one defective (this child is a carrier)

Does that clear anything up or make it worse?
 
K

ktsmom

New member
Hello and welcome to the site. I would imagine that you and your family are overwhelmed. There is a lot of good information here and at CFF.org. Please be careful of other things you might read on the web as some of the information can be out of date.
<br />
<br />The term carrier means that a person has one "defective" CFTR gene and one normal gene. One is passed to the child. When a child receives a defective gene from each parent, that child has CF. Obviously both your son and daughter-in-law are carriers.
<br />
<br />Your son received his defective gene from either you or his father. It is certainly possible that you each carry a defective gene. However only one of you passed it on to him.
<br />
<br />Two carriers have an equal chance with each offspring of these outcomes:
<br />
<br />25% chance of the child receiving two defective genes (child has CF)
<br />25% chance of the child receiving two normal genes (no CF and not a carrier)
<br />50% chance of the child receiving one normal and one defective (this child is a carrier)
<br />
<br />Does that clear anything up or make it worse?
 
C

CeliacNana

New member
Dana and Heather, thank you. Yes, that clears it up nicely.

Is there any reason for us to be tested, perhaps to let other family members know of the risk? (We are long past having any more family ourselves ...!!!)

Colleen
 
C

CeliacNana

New member
Dana and Heather, thank you. Yes, that clears it up nicely.

Is there any reason for us to be tested, perhaps to let other family members know of the risk? (We are long past having any more family ourselves ...!!!)

Colleen
 
C

CeliacNana

New member
Dana and Heather, thank you. Yes, that clears it up nicely.
<br />
<br />Is there any reason for us to be tested, perhaps to let other family members know of the risk? (We are long past having any more family ourselves ...!!!)
<br />
<br />Colleen
 
R

Ratatosk

Administrator
Staff member
It is a good idea to spread the word and have other family members tested. I know a local couple when their daughter was diagnosed had a number of relatives tested as their siblings were also planning to have children. Then they took that info to family reunion and spread the word.

We've encouraged nieces, nephews and cousins to get tested, but believe only a couple have been tested. My nephew is going to be a father in a few days and we hope he or his SO aren't carriers. Their state has newborn screening...
 
R

Ratatosk

Administrator
Staff member
It is a good idea to spread the word and have other family members tested. I know a local couple when their daughter was diagnosed had a number of relatives tested as their siblings were also planning to have children. Then they took that info to family reunion and spread the word.

We've encouraged nieces, nephews and cousins to get tested, but believe only a couple have been tested. My nephew is going to be a father in a few days and we hope he or his SO aren't carriers. Their state has newborn screening...
 
R

Ratatosk

Administrator
Staff member
It is a good idea to spread the word and have other family members tested. I know a local couple when their daughter was diagnosed had a number of relatives tested as their siblings were also planning to have children. Then they took that info to family reunion and spread the word.
<br />
<br />We've encouraged nieces, nephews and cousins to get tested, but believe only a couple have been tested. My nephew is going to be a father in a few days and we hope he or his SO aren't carriers. Their state has newborn screening...
 
K

ktsmom

New member
Colleen - regarding testing yourselves - first, I think it is awesome that you would even think to do that. It can be a sensitive subject as extended family might be in denial and/or blissful ignorance.

In our case it is easy for carrier testing because our DD has two copies of DF508 (the most common mutation) and Ambry Genetics offers a "508 First" which is a relatively cheap test that only looks for DF508.

Some of our parents did carrier testing and DH and I know who we got the gene from. I think there were some strong feelings of guilt, so you might prepare yourself emotionally for that. There has not been much pursuit by other family members to my knowledge. Those in my generation are all done having kids, so the value would be to see if its possible they have a copy of DF508 that they could have passed to their kids (who are still having children). Again, its a sensitive subject!

Edited to add: The Ambry test would actually be "508 <i><b>Only</b></i>" because with their "508 First" test, if a carrier is negative for DF508, Ambry would automatically continue on with their "CF Amplified" test, which is a more expensive test and possibly beyond the scope of what the patient wanted.
 
K

ktsmom

New member
Colleen - regarding testing yourselves - first, I think it is awesome that you would even think to do that. It can be a sensitive subject as extended family might be in denial and/or blissful ignorance.

In our case it is easy for carrier testing because our DD has two copies of DF508 (the most common mutation) and Ambry Genetics offers a "508 First" which is a relatively cheap test that only looks for DF508.

Some of our parents did carrier testing and DH and I know who we got the gene from. I think there were some strong feelings of guilt, so you might prepare yourself emotionally for that. There has not been much pursuit by other family members to my knowledge. Those in my generation are all done having kids, so the value would be to see if its possible they have a copy of DF508 that they could have passed to their kids (who are still having children). Again, its a sensitive subject!

Edited to add: The Ambry test would actually be "508 <i><b>Only</b></i>" because with their "508 First" test, if a carrier is negative for DF508, Ambry would automatically continue on with their "CF Amplified" test, which is a more expensive test and possibly beyond the scope of what the patient wanted.
 
K

ktsmom

New member
Colleen - regarding testing yourselves - first, I think it is awesome that you would even think to do that. It can be a sensitive subject as extended family might be in denial and/or blissful ignorance.
<br />
<br />In our case it is easy for carrier testing because our DD has two copies of DF508 (the most common mutation) and Ambry Genetics offers a "508 First" which is a relatively cheap test that only looks for DF508.
<br />
<br />Some of our parents did carrier testing and DH and I know who we got the gene from. I think there were some strong feelings of guilt, so you might prepare yourself emotionally for that. There has not been much pursuit by other family members to my knowledge. Those in my generation are all done having kids, so the value would be to see if its possible they have a copy of DF508 that they could have passed to their kids (who are still having children). Again, its a sensitive subject!
<br />
<br />Edited to add: The Ambry test would actually be "508 <i><b>Only</b></i>" because with their "508 First" test, if a carrier is negative for DF508, Ambry would automatically continue on with their "CF Amplified" test, which is a more expensive test and possibly beyond the scope of what the patient wanted.
 
H

hmw

New member
DF508 is also tested for on every single panel test~ any test the dr orders (i.e. the cheap 37 mutation panels) will always include that one. In our case as well, that's the gene I carry and it's so much easier to catch that one than some obscure one requiring expensive testing. It's tough in my dh's case~ we don't know his mutation so it's impossible to know which family members are carriers and which are not, so testing of 'significant others' is essential when it comes to anyone on that side of childbearing age. Some have done it, some have not. It's a VERY big family... to be honest, I wouldn't be surprised to see CF crop up again.
 
H

hmw

New member
DF508 is also tested for on every single panel test~ any test the dr orders (i.e. the cheap 37 mutation panels) will always include that one. In our case as well, that's the gene I carry and it's so much easier to catch that one than some obscure one requiring expensive testing. It's tough in my dh's case~ we don't know his mutation so it's impossible to know which family members are carriers and which are not, so testing of 'significant others' is essential when it comes to anyone on that side of childbearing age. Some have done it, some have not. It's a VERY big family... to be honest, I wouldn't be surprised to see CF crop up again.
 
You must log in or register to reply here.
Top