Carrier testing for extended family members

K

ktsmom

New member
Katy's diagnosis in August came as a complete shock, as we have no known cases in our families (like many of you on this site). Since then we have tried to inform family members about the genetics with various success.

We feel very strongly that our nieces and nephews should be tested to see if they are carriers. The fact that our state now screens newborns for CF and also notifies the parents if the infant is just (!) a carrier seems to support our sense that this is important. And we don't mean they should be tested RIGHT NOW, we would just like some assurances from the parents (our brothers and sisters) that they will inform/test their kids when the time is right.

Are we wrong? Is it none of our business? Also, have any of your parents had themselves tested to see which side of the family might need to be concerned - like my cousins, to see if they are carriers. I realize you could go on and on with it. I'm just wondering if we are too freakish about this and what others have done. We're not very popular with some members of the family when we try to talk about it.

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)
 
K

ktsmom

New member
Katy's diagnosis in August came as a complete shock, as we have no known cases in our families (like many of you on this site). Since then we have tried to inform family members about the genetics with various success.

We feel very strongly that our nieces and nephews should be tested to see if they are carriers. The fact that our state now screens newborns for CF and also notifies the parents if the infant is just (!) a carrier seems to support our sense that this is important. And we don't mean they should be tested RIGHT NOW, we would just like some assurances from the parents (our brothers and sisters) that they will inform/test their kids when the time is right.

Are we wrong? Is it none of our business? Also, have any of your parents had themselves tested to see which side of the family might need to be concerned - like my cousins, to see if they are carriers. I realize you could go on and on with it. I'm just wondering if we are too freakish about this and what others have done. We're not very popular with some members of the family when we try to talk about it.

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)
 
K

ktsmom

New member
Katy's diagnosis in August came as a complete shock, as we have no known cases in our families (like many of you on this site). Since then we have tried to inform family members about the genetics with various success.

We feel very strongly that our nieces and nephews should be tested to see if they are carriers. The fact that our state now screens newborns for CF and also notifies the parents if the infant is just (!) a carrier seems to support our sense that this is important. And we don't mean they should be tested RIGHT NOW, we would just like some assurances from the parents (our brothers and sisters) that they will inform/test their kids when the time is right.

Are we wrong? Is it none of our business? Also, have any of your parents had themselves tested to see which side of the family might need to be concerned - like my cousins, to see if they are carriers. I realize you could go on and on with it. I'm just wondering if we are too freakish about this and what others have done. We're not very popular with some members of the family when we try to talk about it.

Dana
Mom to Katy (3, cf) and Kyra (6, no cf)
 
J

JazzysMom

New member
I have found out the hard way that you can mention it, recommend it & say why, but its their decision. NONE of my family members have been tested and only one shows any interest at all. In the meantime all my nieces/nephews are at the age of getting married & having kids. It upset me greatly, but it is what it is & I can only do what I said to you to!
 
J

JazzysMom

New member
I have found out the hard way that you can mention it, recommend it & say why, but its their decision. NONE of my family members have been tested and only one shows any interest at all. In the meantime all my nieces/nephews are at the age of getting married & having kids. It upset me greatly, but it is what it is & I can only do what I said to you to!
 
J

JazzysMom

New member
I have found out the hard way that you can mention it, recommend it & say why, but its their decision. NONE of my family members have been tested and only one shows any interest at all. In the meantime all my nieces/nephews are at the age of getting married & having kids. It upset me greatly, but it is what it is & I can only do what I said to you to!
 
N

np2

New member
I'm currently waiting to find out if CF is an issue or not for my son due to the fact that i have consistantly noticed very greasy stools in my son and he has gone from the 95% for weight to below the 20th since he was 4 months. Anyway since our doctor wants to wait and see what his growth does before ordering any further testing and since my dh and i are both molecular biologists, we decided to just do the genetic testing ourselves to find out whether or not i am even a carrier. First we found out my cousin's mutations, (Df508, G551d) and then we got DNA samples (cheek cell) from everyone who wanted their carrier status known including my grandma, my dh, my son and my cousin. We also got dna samples from a known carrier (my aunt) and my cousin with CF. We have already completed our analysis of the df508 allele. It turns out that it was not the allele our family carries (since my aunt, the known carrier did not have it) so we have to sequence the exon containing the g551d gene to find the carrier status of my son, myself, my cousin and my grandma. The results of this should hopefully be finished by today! Anyway it is good news that my dh is not a carrier of the Df508 allele since that is the most common CF allele. I think it reduces the chance that my son might have cf to, if he is carrier of the G551d (which he most likely is not), about 1/100. If my son does end up being a carrier of our families allele, i think i will insist on further genetic testing (we don't have the resouces do more than what we are doing unfortunately).

Anyway i just thought i would share my story.... hope it didn't bore you...

Do you know what mutations your daughter has?
 
N

np2

New member
I'm currently waiting to find out if CF is an issue or not for my son due to the fact that i have consistantly noticed very greasy stools in my son and he has gone from the 95% for weight to below the 20th since he was 4 months. Anyway since our doctor wants to wait and see what his growth does before ordering any further testing and since my dh and i are both molecular biologists, we decided to just do the genetic testing ourselves to find out whether or not i am even a carrier. First we found out my cousin's mutations, (Df508, G551d) and then we got DNA samples (cheek cell) from everyone who wanted their carrier status known including my grandma, my dh, my son and my cousin. We also got dna samples from a known carrier (my aunt) and my cousin with CF. We have already completed our analysis of the df508 allele. It turns out that it was not the allele our family carries (since my aunt, the known carrier did not have it) so we have to sequence the exon containing the g551d gene to find the carrier status of my son, myself, my cousin and my grandma. The results of this should hopefully be finished by today! Anyway it is good news that my dh is not a carrier of the Df508 allele since that is the most common CF allele. I think it reduces the chance that my son might have cf to, if he is carrier of the G551d (which he most likely is not), about 1/100. If my son does end up being a carrier of our families allele, i think i will insist on further genetic testing (we don't have the resouces do more than what we are doing unfortunately).

Anyway i just thought i would share my story.... hope it didn't bore you...

Do you know what mutations your daughter has?
 
N

np2

New member
I'm currently waiting to find out if CF is an issue or not for my son due to the fact that i have consistantly noticed very greasy stools in my son and he has gone from the 95% for weight to below the 20th since he was 4 months. Anyway since our doctor wants to wait and see what his growth does before ordering any further testing and since my dh and i are both molecular biologists, we decided to just do the genetic testing ourselves to find out whether or not i am even a carrier. First we found out my cousin's mutations, (Df508, G551d) and then we got DNA samples (cheek cell) from everyone who wanted their carrier status known including my grandma, my dh, my son and my cousin. We also got dna samples from a known carrier (my aunt) and my cousin with CF. We have already completed our analysis of the df508 allele. It turns out that it was not the allele our family carries (since my aunt, the known carrier did not have it) so we have to sequence the exon containing the g551d gene to find the carrier status of my son, myself, my cousin and my grandma. The results of this should hopefully be finished by today! Anyway it is good news that my dh is not a carrier of the Df508 allele since that is the most common CF allele. I think it reduces the chance that my son might have cf to, if he is carrier of the G551d (which he most likely is not), about 1/100. If my son does end up being a carrier of our families allele, i think i will insist on further genetic testing (we don't have the resouces do more than what we are doing unfortunately).

Anyway i just thought i would share my story.... hope it didn't bore you...

Do you know what mutations your daughter has?
 
N

Nicole

New member
My husband and I both come from large families. He has 9 siblings and I have 7. So far we are the only two that are married and have kids but I keep stressing to them that I think it's important to know their carrier status. So far no one else has been tested. Both my parents and his have people on certain sides of the family that insist that "there's no way it came from our side of the family." I don't know if they fully understand how it really works or not.
 
N

Nicole

New member
My husband and I both come from large families. He has 9 siblings and I have 7. So far we are the only two that are married and have kids but I keep stressing to them that I think it's important to know their carrier status. So far no one else has been tested. Both my parents and his have people on certain sides of the family that insist that "there's no way it came from our side of the family." I don't know if they fully understand how it really works or not.
 
N

Nicole

New member
My husband and I both come from large families. He has 9 siblings and I have 7. So far we are the only two that are married and have kids but I keep stressing to them that I think it's important to know their carrier status. So far no one else has been tested. Both my parents and his have people on certain sides of the family that insist that "there's no way it came from our side of the family." I don't know if they fully understand how it really works or not.
 
R

Rebjane

Super Moderator
We have no "known " family history of CF. My husband and I are both carriers(of course) and our daughter has CF, complete shock for our whole family when we found out. The genetic counselor said of course cousins, siblings can be carriers as well and should be tested. Our moral responsibility was to inform cousins, siblings of the possibility of being a carrier of the CF mutation but it is the person's personal choice what they do with that information.

For example, my sister got carrier tested because of my daughter's diagnosis and my sister already had 2 children so she worried alot they could have it as well as she was thinking of having more children. She turned out to be a carrier, but husband is NOT. My SIL (not married/no kids) has not been carrier tested, she's waiting til she's ready to get married etc. We all know you can get prego without being married but this is her choice, and we explained her risk of being a carrier is 50%. We also told cousins that for some reason that part of the family relations are strained and minimal. Still , we felt it was our responsibility dthey ahve that info and do what they please with it.

That's how we handled it.
 
R

Rebjane

Super Moderator
We have no "known " family history of CF. My husband and I are both carriers(of course) and our daughter has CF, complete shock for our whole family when we found out. The genetic counselor said of course cousins, siblings can be carriers as well and should be tested. Our moral responsibility was to inform cousins, siblings of the possibility of being a carrier of the CF mutation but it is the person's personal choice what they do with that information.

For example, my sister got carrier tested because of my daughter's diagnosis and my sister already had 2 children so she worried alot they could have it as well as she was thinking of having more children. She turned out to be a carrier, but husband is NOT. My SIL (not married/no kids) has not been carrier tested, she's waiting til she's ready to get married etc. We all know you can get prego without being married but this is her choice, and we explained her risk of being a carrier is 50%. We also told cousins that for some reason that part of the family relations are strained and minimal. Still , we felt it was our responsibility dthey ahve that info and do what they please with it.

That's how we handled it.
 
R

Rebjane

Super Moderator
We have no "known " family history of CF. My husband and I are both carriers(of course) and our daughter has CF, complete shock for our whole family when we found out. The genetic counselor said of course cousins, siblings can be carriers as well and should be tested. Our moral responsibility was to inform cousins, siblings of the possibility of being a carrier of the CF mutation but it is the person's personal choice what they do with that information.

For example, my sister got carrier tested because of my daughter's diagnosis and my sister already had 2 children so she worried alot they could have it as well as she was thinking of having more children. She turned out to be a carrier, but husband is NOT. My SIL (not married/no kids) has not been carrier tested, she's waiting til she's ready to get married etc. We all know you can get prego without being married but this is her choice, and we explained her risk of being a carrier is 50%. We also told cousins that for some reason that part of the family relations are strained and minimal. Still , we felt it was our responsibility dthey ahve that info and do what they please with it.

That's how we handled it.
 
R

Rebjane

Super Moderator
And you can always blame the doctor or genetic counselor that they recommended you tell family members if you feel people will react wierd, sometimes people are really freaked out by genetic testing.
 
R

Rebjane

Super Moderator
And you can always blame the doctor or genetic counselor that they recommended you tell family members if you feel people will react wierd, sometimes people are really freaked out by genetic testing.
 
R

Rebjane

Super Moderator
And you can always blame the doctor or genetic counselor that they recommended you tell family members if you feel people will react wierd, sometimes people are really freaked out by genetic testing.
 
A

Allie

New member
In Ry's family, most of the aunts, uncles, etc, have been tested. a usual engagement gift is a genetic screen or CF, tay sachs...the biggies, because that's all important. I know genetic testing freaks out some people, but I'm not sure why.
 
A

Allie

New member
In Ry's family, most of the aunts, uncles, etc, have been tested. a usual engagement gift is a genetic screen or CF, tay sachs...the biggies, because that's all important. I know genetic testing freaks out some people, but I'm not sure why.
 
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