We received the diagnosis for our granddaughter of homozygous Delta F508 when she was just 9 days old. She is now 12 days old and already on enzyme therapy. The day following the diagnosis, and we were devastated when first hearing it, we had an appointment at Children's Hospital in Boston. Dr. Bailey and the rest of the CF team we are assigned to made us feel much better and positive about our granddaughter's future. Neither my wife nor I have ever been tested as carriers for CF but I plan to get tested as soon as I can just to find out where my daughter got her carrier gene. I asked my 1st cousin if she knew of anyone in the family with CF and she claims she was tested because of pulmonary problems and is a CF carrier. My father doesn't know of anyone in his family and I don't speak to my mother so I'll have to guess the gene came from my mother's side and I may be a carrier until a positive genetic test result. My wife knows of none of her family members who may have the gene but she will get tested if my test result is negative. The baby's father claims to have tested negative when his first daughter, now three years old, was diagnosed as a carrier. The daughter's mother is a carrier and has family members who have or had CF. When I say "had" cf it means those members are no longer with us. It is obvious my son-in-law is a carrier as is my daughter; she was diagnosed during pregnancy. The sweat test was attempted on my granddaughter, at 10 days old, but not enough sweat was produced to obtain results. Even though we are told a Homozygous diagnosis is a positive analysis they still must perform a sweat test which will be reattempted in six weeks. This is all new to us and we have learned so much about CF in the past 48 hours. Our heads are spinning. We are new to this forum and hope to learn as well as contribute as we go along. Our daughter and granddaughter live with us so we are very close.
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
New Born Screening Positive
- Thread starter juliettesmama
- Start date
We received the diagnosis for our granddaughter of homozygous Delta F508 when she was just 9 days old. She is now 12 days old and already on enzyme therapy. The day following the diagnosis, and we were devastated when first hearing it, we had an appointment at Children's Hospital in Boston. Dr. Bailey and the rest of the CF team we are assigned to made us feel much better and positive about our granddaughter's future. Neither my wife nor I have ever been tested as carriers for CF but I plan to get tested as soon as I can just to find out where my daughter got her carrier gene. I asked my 1st cousin if she knew of anyone in the family with CF and she claims she was tested because of pulmonary problems and is a CF carrier. My father doesn't know of anyone in his family and I don't speak to my mother so I'll have to guess the gene came from my mother's side and I may be a carrier until a positive genetic test result. My wife knows of none of her family members who may have the gene but she will get tested if my test result is negative. The baby's father claims to have tested negative when his first daughter, now three years old, was diagnosed as a carrier. The daughter's mother is a carrier and has family members who have or had CF. When I say "had" cf it means those members are no longer with us. It is obvious my son-in-law is a carrier as is my daughter; she was diagnosed during pregnancy. The sweat test was attempted on my granddaughter, at 10 days old, but not enough sweat was produced to obtain results. Even though we are told a Homozygous diagnosis is a positive analysis they still must perform a sweat test which will be reattempted in six weeks. This is all new to us and we have learned so much about CF in the past 48 hours. Our heads are spinning. We are new to this forum and hope to learn as well as contribute as we go along. Our daughter and granddaughter live with us so we are very close.
Jimick -- as with a number of us on this site, the CF diagnosis was quite a shock. No family history and both DH and my families have extensive geneology studies going back hundreds of years. No indication of early deaths of children or lung issues. Unless you and your wife are planning to have additional children, IMO, I really wouldn't bother with carrier testing; however, I WOULD encourage you to have any relatives -- nieces, nephews, children to have testing done prior to having children -- or at least make them aware of the possibility.
My MIL wanted to get tested to prove that it was probably my FIL's side of the family. Being that we're all of northern european descent, the jean could have come from anywhere and I don't see any point.
As for your granddaughter -- remember she's a normal little girl who just needs some extra meds, treatments to keep her lungs happy and healthy.
My MIL wanted to get tested to prove that it was probably my FIL's side of the family. Being that we're all of northern european descent, the jean could have come from anywhere and I don't see any point.
As for your granddaughter -- remember she's a normal little girl who just needs some extra meds, treatments to keep her lungs happy and healthy.
Jimick -- as with a number of us on this site, the CF diagnosis was quite a shock. No family history and both DH and my families have extensive geneology studies going back hundreds of years. No indication of early deaths of children or lung issues. Unless you and your wife are planning to have additional children, IMO, I really wouldn't bother with carrier testing; however, I WOULD encourage you to have any relatives -- nieces, nephews, children to have testing done prior to having children -- or at least make them aware of the possibility.
My MIL wanted to get tested to prove that it was probably my FIL's side of the family. Being that we're all of northern european descent, the jean could have come from anywhere and I don't see any point.
As for your granddaughter -- remember she's a normal little girl who just needs some extra meds, treatments to keep her lungs happy and healthy.
My MIL wanted to get tested to prove that it was probably my FIL's side of the family. Being that we're all of northern european descent, the jean could have come from anywhere and I don't see any point.
As for your granddaughter -- remember she's a normal little girl who just needs some extra meds, treatments to keep her lungs happy and healthy.
Thank you Liza. My granddaughter and I have bonded since the time she was 1/2 hour old. My wife and I will not be having any more children...we're in our 50's and although it's possible it ain't gonna happen I tell ya. lol None of our three grown children have cf. Only found out my daughter is a carrier when she was tested during pregnancy.
General question for this forum:
My son-in-law claims he tested negative for the cf genes, his daughter from a previous relationship and his girlfriend were tested and both diagnosed as carriers. My granddaughter's pediatrician is suggesting perhaps the baby synthesized her own second gene. Other than asking the doctors at CH (haven't had the chance) I've tried Google-ing an answer but have been unsuccessful. Is this even possible? Can a child who has only one parent carrying the Delta F508 gene get DD F508? TIA
General question for this forum:
My son-in-law claims he tested negative for the cf genes, his daughter from a previous relationship and his girlfriend were tested and both diagnosed as carriers. My granddaughter's pediatrician is suggesting perhaps the baby synthesized her own second gene. Other than asking the doctors at CH (haven't had the chance) I've tried Google-ing an answer but have been unsuccessful. Is this even possible? Can a child who has only one parent carrying the Delta F508 gene get DD F508? TIA
Thank you Liza. My granddaughter and I have bonded since the time she was 1/2 hour old. My wife and I will not be having any more children...we're in our 50's and although it's possible it ain't gonna happen I tell ya. lol None of our three grown children have cf. Only found out my daughter is a carrier when she was tested during pregnancy.
General question for this forum:
My son-in-law claims he tested negative for the cf genes, his daughter from a previous relationship and his girlfriend were tested and both diagnosed as carriers. My granddaughter's pediatrician is suggesting perhaps the baby synthesized her own second gene. Other than asking the doctors at CH (haven't had the chance) I've tried Google-ing an answer but have been unsuccessful. Is this even possible? Can a child who has only one parent carrying the Delta F508 gene get DD F508? TIA
General question for this forum:
My son-in-law claims he tested negative for the cf genes, his daughter from a previous relationship and his girlfriend were tested and both diagnosed as carriers. My granddaughter's pediatrician is suggesting perhaps the baby synthesized her own second gene. Other than asking the doctors at CH (haven't had the chance) I've tried Google-ing an answer but have been unsuccessful. Is this even possible? Can a child who has only one parent carrying the Delta F508 gene get DD F508? TIA
There are several levels of testing done for the CF gene. When I was first tested there were only 250 KNOWN mutations, today there are more than 1800 KNOWN genes. Unfortunally, usually because of cost or insurance limitations, people are still tested for much less than the FULL CF SEQUENCING. Son In Law was most likely tested for a small number of mutations.
Bill
Bill
There are several levels of testing done for the CF gene. When I was first tested there were only 250 KNOWN mutations, today there are more than 1800 KNOWN genes. Unfortunally, usually because of cost or insurance limitations, people are still tested for much less than the FULL CF SEQUENCING. Son In Law was most likely tested for a small number of mutations.
Bill
Bill
Jimick, seems odd being that your granddaughter has ddf508, as its a very common mutation; however, there could have been an issue with your SIL's testing -- not a large enough sample, handled incorrectly or maybe a misunderstanding -- that they tested for something else and not necessarily CF. Might be a question for Steve under the Ambry topic.
Meanwhile, enjoy your granddaughter. It's all pretty overwhelming at first, but just take things one step at a time. Eventually your daughter and the rest of you will get into a routine. Today, my son is busy 2nd grader -- active in sports, school...
Meanwhile, enjoy your granddaughter. It's all pretty overwhelming at first, but just take things one step at a time. Eventually your daughter and the rest of you will get into a routine. Today, my son is busy 2nd grader -- active in sports, school...
Jimick, seems odd being that your granddaughter has ddf508, as its a very common mutation; however, there could have been an issue with your SIL's testing -- not a large enough sample, handled incorrectly or maybe a misunderstanding -- that they tested for something else and not necessarily CF. Might be a question for Steve under the Ambry topic.
Meanwhile, enjoy your granddaughter. It's all pretty overwhelming at first, but just take things one step at a time. Eventually your daughter and the rest of you will get into a routine. Today, my son is busy 2nd grader -- active in sports, school...
Meanwhile, enjoy your granddaughter. It's all pretty overwhelming at first, but just take things one step at a time. Eventually your daughter and the rest of you will get into a routine. Today, my son is busy 2nd grader -- active in sports, school...
S
Swallowtail66
Guest
Someone was the first one to mutate the Df508. My daughter was the first in the CF database to have the 749 Delete T. However, I'd bank on him actually testing positive. Statistics say that is the more likely outcome. Sometimes mistakes are made; sometimes people misunderstand; sometimes people live in denial.
S
Swallowtail66
Guest
Someone was the first one to mutate the Df508. My daughter was the first in the CF database to have the 749 Delete T. However, I'd bank on him actually testing positive. Statistics say that is the more likely outcome. Sometimes mistakes are made; sometimes people misunderstand; sometimes people live in denial.