Carrier Testing for Relatives

R

Ratatosk

Administrator
Staff member
Yesterday DH's cousin mentioned that she's been on the phone for the past two weeks trying to get testing done on herself to see if she's a carrier. She has one child and they're planning to have more, but would like to find out if she is a carrier before proceeding. She started with her GP, who referred her to her OB-GYN (who didn't understand what she was asking), so she asked her endocrinologist (she has type 1 diabetes), who referred who to the University Genetics department who told her they could do a cheek swab... I know of another family who had extensive testing done after a child was born wcf, so I've got an email in to them to see where they went locally to get tested. I think it's WONDERFUL that several family members are taking the initiative to have testing done.

Here's the VENT! My MIL, who is a retired nursing instructor said, she'd like to get tested because "that way if she's not a carrier, then "IT" (CF)!!! Comes from her husband's family and then she can tell all HER relatives that they don't have to worry about CF. Wanted to SLAP her -- well, I normally feel like slapping her, but even more so this time. I tried explaining that CF is a northern European disease, that just because she's not a carrier doesn't mean that her siblings aren't, too. I explained about the CF family above -- daughter has CF, son isn't even a carrier. Nope, she wouldn't buy it -- MIL wants to get tested, prove she's not a carried and then she can tell her side of the family they don't have to worry.

Grrr! There are several cousins, nieces and nephews that are getting ready to start families in the next couple of years. Several who have asthma, or UR issues that haven't been diagnosed. I just think it is so, so irresponsible to tell people that they're okay. Heck, according to geneology on BOTH sides of our families there's no family history, no young deaths, nada.... Sigh... Some people just don't get it.
 
R

Ratatosk

Administrator
Staff member
Yesterday DH's cousin mentioned that she's been on the phone for the past two weeks trying to get testing done on herself to see if she's a carrier. She has one child and they're planning to have more, but would like to find out if she is a carrier before proceeding. She started with her GP, who referred her to her OB-GYN (who didn't understand what she was asking), so she asked her endocrinologist (she has type 1 diabetes), who referred who to the University Genetics department who told her they could do a cheek swab... I know of another family who had extensive testing done after a child was born wcf, so I've got an email in to them to see where they went locally to get tested. I think it's WONDERFUL that several family members are taking the initiative to have testing done.

Here's the VENT! My MIL, who is a retired nursing instructor said, she'd like to get tested because "that way if she's not a carrier, then "IT" (CF)!!! Comes from her husband's family and then she can tell all HER relatives that they don't have to worry about CF. Wanted to SLAP her -- well, I normally feel like slapping her, but even more so this time. I tried explaining that CF is a northern European disease, that just because she's not a carrier doesn't mean that her siblings aren't, too. I explained about the CF family above -- daughter has CF, son isn't even a carrier. Nope, she wouldn't buy it -- MIL wants to get tested, prove she's not a carried and then she can tell her side of the family they don't have to worry.

Grrr! There are several cousins, nieces and nephews that are getting ready to start families in the next couple of years. Several who have asthma, or UR issues that haven't been diagnosed. I just think it is so, so irresponsible to tell people that they're okay. Heck, according to geneology on BOTH sides of our families there's no family history, no young deaths, nada.... Sigh... Some people just don't get it.
 
R

Ratatosk

Administrator
Staff member
Yesterday DH's cousin mentioned that she's been on the phone for the past two weeks trying to get testing done on herself to see if she's a carrier. She has one child and they're planning to have more, but would like to find out if she is a carrier before proceeding. She started with her GP, who referred her to her OB-GYN (who didn't understand what she was asking), so she asked her endocrinologist (she has type 1 diabetes), who referred who to the University Genetics department who told her they could do a cheek swab... I know of another family who had extensive testing done after a child was born wcf, so I've got an email in to them to see where they went locally to get tested. I think it's WONDERFUL that several family members are taking the initiative to have testing done.

Here's the VENT! My MIL, who is a retired nursing instructor said, she'd like to get tested because "that way if she's not a carrier, then "IT" (CF)!!! Comes from her husband's family and then she can tell all HER relatives that they don't have to worry about CF. Wanted to SLAP her -- well, I normally feel like slapping her, but even more so this time. I tried explaining that CF is a northern European disease, that just because she's not a carrier doesn't mean that her siblings aren't, too. I explained about the CF family above -- daughter has CF, son isn't even a carrier. Nope, she wouldn't buy it -- MIL wants to get tested, prove she's not a carried and then she can tell her side of the family they don't have to worry.

Grrr! There are several cousins, nieces and nephews that are getting ready to start families in the next couple of years. Several who have asthma, or UR issues that haven't been diagnosed. I just think it is so, so irresponsible to tell people that they're okay. Heck, according to geneology on BOTH sides of our families there's no family history, no young deaths, nada.... Sigh... Some people just don't get it.
 
M

Mommafirst

Guest
Oh geez, Liza, that is incredibly aggrevating!! I'm so fed up with people who want to point the finger away from them when it comes to genetics. My MIL keeps insisting a similar thing and she won't even get tested. I just don't understand that line of thinking, because if they are saying its not in MY genetics, its like saying "its all YOUR fault". As if we would EVER have chosen to give this disease to our kids. As if we don't feel bad enough that our genetics caused this!!!! <br>
<br>
I'm so sorry there are people like this that make our journey even more difficult than it already is!!!
 
M

Mommafirst

Guest
Oh geez, Liza, that is incredibly aggrevating!! I'm so fed up with people who want to point the finger away from them when it comes to genetics. My MIL keeps insisting a similar thing and she won't even get tested. I just don't understand that line of thinking, because if they are saying its not in MY genetics, its like saying "its all YOUR fault". As if we would EVER have chosen to give this disease to our kids. As if we don't feel bad enough that our genetics caused this!!!! <br>
<br>
I'm so sorry there are people like this that make our journey even more difficult than it already is!!!
 
M

Mommafirst

Guest
Oh geez, Liza, that is incredibly aggrevating!! I'm so fed up with people who want to point the finger away from them when it comes to genetics. My MIL keeps insisting a similar thing and she won't even get tested. I just don't understand that line of thinking, because if they are saying its not in MY genetics, its like saying "its all YOUR fault". As if we would EVER have chosen to give this disease to our kids. As if we don't feel bad enough that our genetics caused this!!!! <br>
<br>
I'm so sorry there are people like this that make our journey even more difficult than it already is!!!
 
J

JazzysMom

New member
If your MIL can get tested AND speak to a genetic counselor that might help. They would tell her that even if SHE isnt a carrier that her siblings could be and should be tested if they want to "clear" the family name. From the sounds of it tho....your MIL might think the Genetic Counselor is a quack and IF she came back a carrier she would think everyone involved in the testing is incompetant. I am sorry families have to deal with this. The easiest thing to tell anyone is that Medicine and Genetics are complicated and not an exact science so there are always more to it then the obvious................
 
J

JazzysMom

New member
If your MIL can get tested AND speak to a genetic counselor that might help. They would tell her that even if SHE isnt a carrier that her siblings could be and should be tested if they want to "clear" the family name. From the sounds of it tho....your MIL might think the Genetic Counselor is a quack and IF she came back a carrier she would think everyone involved in the testing is incompetant. I am sorry families have to deal with this. The easiest thing to tell anyone is that Medicine and Genetics are complicated and not an exact science so there are always more to it then the obvious................
 
J

JazzysMom

New member
If your MIL can get tested AND speak to a genetic counselor that might help. They would tell her that even if SHE isnt a carrier that her siblings could be and should be tested if they want to "clear" the family name. From the sounds of it tho....your MIL might think the Genetic Counselor is a quack and IF she came back a carrier she would think everyone involved in the testing is incompetant. I am sorry families have to deal with this. The easiest thing to tell anyone is that Medicine and Genetics are complicated and not an exact science so there are always more to it then the obvious................
 
R

Ratatosk

Administrator
Staff member
On a separate note, the whole issue of trying to get testing is ridiculous. Here's someone who is planning to have more children, would like to be tested prior to doing so and she gets the runaround from several different doctors at the local clinic, which BTW, has an accreditted CF facility for several weeks before giving up. I do have an email in to the local March of Dimes chapter, but I imagine they'll probably refer me to the University genetics department.

I spoke with another CF family, whose entire family -- aunts, uncles, grandparents, siblings all got testing once they had a cf diagnosis in the family and they just went to the local clinic, they drew blood and sent it in for testing. No questions asked. Only one person had problems -- insurance wouldn't cover it for an older person.
 
R

Ratatosk

Administrator
Staff member
On a separate note, the whole issue of trying to get testing is ridiculous. Here's someone who is planning to have more children, would like to be tested prior to doing so and she gets the runaround from several different doctors at the local clinic, which BTW, has an accreditted CF facility for several weeks before giving up. I do have an email in to the local March of Dimes chapter, but I imagine they'll probably refer me to the University genetics department.

I spoke with another CF family, whose entire family -- aunts, uncles, grandparents, siblings all got testing once they had a cf diagnosis in the family and they just went to the local clinic, they drew blood and sent it in for testing. No questions asked. Only one person had problems -- insurance wouldn't cover it for an older person.
 
R

Ratatosk

Administrator
Staff member
On a separate note, the whole issue of trying to get testing is ridiculous. Here's someone who is planning to have more children, would like to be tested prior to doing so and she gets the runaround from several different doctors at the local clinic, which BTW, has an accreditted CF facility for several weeks before giving up. I do have an email in to the local March of Dimes chapter, but I imagine they'll probably refer me to the University genetics department.

I spoke with another CF family, whose entire family -- aunts, uncles, grandparents, siblings all got testing once they had a cf diagnosis in the family and they just went to the local clinic, they drew blood and sent it in for testing. No questions asked. Only one person had problems -- insurance wouldn't cover it for an older person.
 
S

sdelorenzo

Guest
Both my parents and my husband's parents got genetic testing after my daughter was diagnosed. My husband and I have 40 first cousins and it made sense to identify which side of the family was at higher risk than the general population.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
Both my parents and my husband's parents got genetic testing after my daughter was diagnosed. My husband and I have 40 first cousins and it made sense to identify which side of the family was at higher risk than the general population.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf
 
S

sdelorenzo

Guest
Both my parents and my husband's parents got genetic testing after my daughter was diagnosed. My husband and I have 40 first cousins and it made sense to identify which side of the family was at higher risk than the general population.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf
 
E

Emily65Roses

New member
Oh and similar story... when I was dx, my mom got blamed by my fathers' parents. They were all "This came from you, it's YOUR fault." Which is stupid as hell, because while my mom gave me a Delta F508, my dad gave me this really bizarre mutation that's worse. Hah!

It's ridiculous how fast a family jumps to blame genes on one person rather than another. It's GENES, it's not even like you did it on purpose, HELLO!!!

Kay I'm done. But I still wish to slap that woman. <img src="i/expressions/devil.gif" border="0">
 
E

Emily65Roses

New member
Oh and similar story... when I was dx, my mom got blamed by my fathers' parents. They were all "This came from you, it's YOUR fault." Which is stupid as hell, because while my mom gave me a Delta F508, my dad gave me this really bizarre mutation that's worse. Hah!

It's ridiculous how fast a family jumps to blame genes on one person rather than another. It's GENES, it's not even like you did it on purpose, HELLO!!!

Kay I'm done. But I still wish to slap that woman. <img src="i/expressions/devil.gif" border="0">
 
You must log in or register to reply here.
Top