My granddaughter screened positive for CF. My daughter took her to the Loma Linda CF clinic yesterday-where she was completely overwhelmed and left completely confused. The Dr. at Loma Linda said that Kathryn, my granddaughter, had a rare combination of genes, and that they would need to determine if they both came from Mom or if one is from Mom and one from the father, so they took blood from my daughter for testing and scheduled a sweat test for Kathryn next month, her two sisters will also be tested. My daughter followed up with her pediatrician, who immediately had her meet with a pulmonary specialist. All this was in the span of one afternoon-so when the counselor at the CF clinic asked my daughter if she had any questions she was completely dumb founded. The counselor told my daughter that these are all just tests, and anything conclusive is going to take some time. So, she screened positive, but they have identified some gene-OK, what does that mean? What numbers should my daughter ask for? Should she call the clinic back and ask what the "rare" gene combination is? She really needs to know what she is looking for. Thanks to anyone who can help!
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we need to know what ?s to ask
- Thread starter kateinfla
- Start date
My granddaughter screened positive for CF. My daughter took her to the Loma Linda CF clinic yesterday-where she was completely overwhelmed and left completely confused. The Dr. at Loma Linda said that Kathryn, my granddaughter, had a rare combination of genes, and that they would need to determine if they both came from Mom or if one is from Mom and one from the father, so they took blood from my daughter for testing and scheduled a sweat test for Kathryn next month, her two sisters will also be tested. My daughter followed up with her pediatrician, who immediately had her meet with a pulmonary specialist. All this was in the span of one afternoon-so when the counselor at the CF clinic asked my daughter if she had any questions she was completely dumb founded. The counselor told my daughter that these are all just tests, and anything conclusive is going to take some time. So, she screened positive, but they have identified some gene-OK, what does that mean? What numbers should my daughter ask for? Should she call the clinic back and ask what the "rare" gene combination is? She really needs to know what she is looking for. Thanks to anyone who can help!
My granddaughter screened positive for CF. My daughter took her to the Loma Linda CF clinic yesterday-where she was completely overwhelmed and left completely confused. The Dr. at Loma Linda said that Kathryn, my granddaughter, had a rare combination of genes, and that they would need to determine if they both came from Mom or if one is from Mom and one from the father, so they took blood from my daughter for testing and scheduled a sweat test for Kathryn next month, her two sisters will also be tested. My daughter followed up with her pediatrician, who immediately had her meet with a pulmonary specialist. All this was in the span of one afternoon-so when the counselor at the CF clinic asked my daughter if she had any questions she was completely dumb founded. The counselor told my daughter that these are all just tests, and anything conclusive is going to take some time. So, she screened positive, but they have identified some gene-OK, what does that mean? What numbers should my daughter ask for? Should she call the clinic back and ask what the "rare" gene combination is? She really needs to know what she is looking for. Thanks to anyone who can help!
M
Mommafirst
Guest
All of that is exactly how diagnosis went down for us. Unless a child has two of the same mutations, they will check to make sure they aren't on the sme allele. Its rare, but possible. Definitely ask for the two mutation names. Oddly, there are only a few common ones and all the rest are tagged "rare", and when they pair together they are even more rare.
I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
M
Mommafirst
Guest
All of that is exactly how diagnosis went down for us. Unless a child has two of the same mutations, they will check to make sure they aren't on the sme allele. Its rare, but possible. Definitely ask for the two mutation names. Oddly, there are only a few common ones and all the rest are tagged "rare", and when they pair together they are even more rare.
I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
M
Mommafirst
Guest
All of that is exactly how diagnosis went down for us. Unless a child has two of the same mutations, they will check to make sure they aren't on the sme allele. Its rare, but possible. Definitely ask for the two mutation names. Oddly, there are only a few common ones and all the rest are tagged "rare", and when they pair together they are even more rare.
<br />
<br />I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
<br />
<br />I know this is overwhelming. It is for everyone, and you CF center knows it. They expect that questions will keep coming. Hang in there, what seems like a foreign language now with become a part of everday life if this diagnosis happens.
It's so difficult to know what questions to ask in the beginning and perfectly normal not to ask right away. At first you are just trying to process all the information they are throwing at you and accept that your baby is sick. I had a million questions and none at all; partly because the CF center is so thorough (it is what they do afterall), and partly because I couldn't articulate all the things that were going on in my head.
It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
It's so difficult to know what questions to ask in the beginning and perfectly normal not to ask right away. At first you are just trying to process all the information they are throwing at you and accept that your baby is sick. I had a million questions and none at all; partly because the CF center is so thorough (it is what they do afterall), and partly because I couldn't articulate all the things that were going on in my head.
It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
It's so difficult to know what questions to ask in the beginning and perfectly normal not to ask right away. At first you are just trying to process all the information they are throwing at you and accept that your baby is sick. I had a million questions and none at all; partly because the CF center is so thorough (it is what they do afterall), and partly because I couldn't articulate all the things that were going on in my head.
<br />
<br />It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
<br />
<br />It will come, but until then...if they are positive she has CF, then I would want to know how to start treating her. For my daughter, we didn't even know her mutations til she was well over a year old. She had CF, knowing her mutations didn't really seem that important since no two cases of CF are the same. I was more concerned about what we could and needed to do at that moment. We started enzymes, vitamins, and chest pt at four weeks.
Hello & welcome. I know that his is a very confusing time. It sounds like the CF clinic is taking the necessary steps to determine exactly what the best course of treatment is for everyone involved. When they get the results of the genetic tests, they will have more answers for you.
Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
Stacey
Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
Stacey
Hello & welcome. I know that his is a very confusing time. It sounds like the CF clinic is taking the necessary steps to determine exactly what the best course of treatment is for everyone involved. When they get the results of the genetic tests, they will have more answers for you.
Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
Stacey
Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
Stacey
Hello & welcome. I know that his is a very confusing time. It sounds like the CF clinic is taking the necessary steps to determine exactly what the best course of treatment is for everyone involved. When they get the results of the genetic tests, they will have more answers for you.
<br />
<br />Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
<br />
<br />When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
<br />
<br />Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
<br />
<br />Stacey
<br />
<br />Keep in mind that the CF clinic has all of the specialists you will need. I understand that the ped is trying to be thorough by sending her to a pulmo, but probably not necessary at this point. The CF clinic will check all of those things.
<br />
<br />When the clinic calls your daughter back with the test results, they'll probably schedule an appt. She should take a notebook, and write down everything. If they are moving to fast, ask them to stop & explain anything that she needs clarification on. They know this is overwhelming. If your daughter can take someone with her to the appt. it might help to have some moral support, and someone to help remember things.
<br />
<br />Just take everything a step at a time, and ask all of the questions here that you need to. We've all been through this, and understand. This site has taught me more than any clinic or doctor ever did. Hang in there.
<br />
<br />Stacey
thaks for the support, this is like a crazy ride. When the screening came back possitive, the hospital called ME, at work, in FLA-which started the panic, as my daughter and grandchildren are in California. Friday my daughter was told to bring Kathryn in, she was convinced it was a false positive, so she was completely blind sided. I thought the screening only indicated the IRT (?) levels-how did they find the genes so quickly? If the levels are high do they continue byond the screening? I am sorry, I am a Social Worker-use to having answers for parents, and this is like a foreign language to me. Developmental Disabilities, I understand.
thaks for the support, this is like a crazy ride. When the screening came back possitive, the hospital called ME, at work, in FLA-which started the panic, as my daughter and grandchildren are in California. Friday my daughter was told to bring Kathryn in, she was convinced it was a false positive, so she was completely blind sided. I thought the screening only indicated the IRT (?) levels-how did they find the genes so quickly? If the levels are high do they continue byond the screening? I am sorry, I am a Social Worker-use to having answers for parents, and this is like a foreign language to me. Developmental Disabilities, I understand.
thaks for the support, this is like a crazy ride. When the screening came back possitive, the hospital called ME, at work, in FLA-which started the panic, as my daughter and grandchildren are in California. Friday my daughter was told to bring Kathryn in, she was convinced it was a false positive, so she was completely blind sided. I thought the screening only indicated the IRT (?) levels-how did they find the genes so quickly? If the levels are high do they continue byond the screening? I am sorry, I am a Social Worker-use to having answers for parents, and this is like a foreign language to me. Developmental Disabilities, I understand.
States vary in how they screen for CF; it seems that CA has a particularly thorough program where if a baby has a high IRT level with the first round of screening, genetic testing commences. (ALL states should be this thorough!)
I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">
I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">
States vary in how they screen for CF; it seems that CA has a particularly thorough program where if a baby has a high IRT level with the first round of screening, genetic testing commences. (ALL states should be this thorough!)
I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">
I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">
States vary in how they screen for CF; it seems that CA has a particularly thorough program where if a baby has a high IRT level with the first round of screening, genetic testing commences. (ALL states should be this thorough!)
<br />
<br />I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
<br />
<br />The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
<br />
<br />Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
<br />
<br />The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
<br />
<br />I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />I completely understand how overwhelming this process is. Our first clinic appt was over 4hrs long. Sadie'smom put it well with having 'a million questions and none at all' ...my head was spinning but I had no idea how to articulate much of it for days.
<br />
<br />The diagnostic process is hard. Finding two mutations combined with a high IRT is, essentially, diagnostic- much more so than a sweat test with a baby. There are times when two mutations will be found on one allele and none on the other, but this is very uncommon. Testing the baby's mom will confirm this, though- if she tests positive for only one of the baby's mutations then this 100% confirms the baby's diagnosis.
<br />
<br />Testing siblings (whether or not they are symptomatic) is routine and a very good idea. That was done right away when my daughter was dx'ed (they had both genetic tests and sweat tests.)
<br />
<br />The CF clinic will be an overwhelming place to go but I agree with the above... they will be able to address all the many facets of caring for the baby's various needs when it comes to CF. The pulmonary team there specializes in CF, there is a dietitian to help manage the nutritional & growth issues that crop up with this disease, etc. There is also a social worker we see at each clinic visit; they are invaluable throughout the diagnostic process as well as with helping deal with insurance issues, etc. You may be able to get in touch with the social worker at your daughter's clinic and talk.
<br />
<br />I'm so sorry your daughter (and all of you) are going through this. I hope your granddaughter is doing well and continues to do well for a long time. Current knowledge about CF shows how beneficial it is to be able to dx babies right from the start in order to be able to get a jump on preventative treatment. Any other questions you have we will do our best to answer... wishing all of you the best. <img src="i/expressions/face-icon-small-smile.gif" border="0">