my 6 day old daughter was just diagnosed

2k2wranglerx · Jun 3, 2011

had some really tough news today. my wife took my 6 day old baby girl in to the Dr's for a normal weight check and her screening that they did at the hospital came back for cystic fibrosis. we are absolutely blindsided and shocked. There's no history in our families.
our Pediatrician did a horrible job explaining it to my wife. at least her mother was with her. he woudlnt give any straight answers. my neighbor is a general practicioner and came over and read the results with us and she has both recessive genes. so she does have it, but we're getting the sweat test on wednesday to confirm. 
Lots of tears today. it's hard to think that my beautiful little girl has a disease, but my wife and i are both bound and determined to make her life the exact same as it would even if she didn't have it. 
<img src="http://i72.photobucket.com/albums/i199/46willys/252542_664403198976_47501098_35066630_4011737_n.jpg">
<img src="http://i72.photobucket.com/albums/i199/46willys/IMG00300-20110601-2251.jpg">

2k2wranglerx · Jun 3, 2011

had some really tough news today. my wife took my 6 day old baby girl in to the Dr's for a normal weight check and her screening that they did at the hospital came back for cystic fibrosis. we are absolutely blindsided and shocked. There's no history in our families.
our Pediatrician did a horrible job explaining it to my wife. at least her mother was with her. he woudlnt give any straight answers. my neighbor is a general practicioner and came over and read the results with us and she has both recessive genes. so she does have it, but we're getting the sweat test on wednesday to confirm. 
Lots of tears today. it's hard to think that my beautiful little girlhas adisease, but my wife and i are both bound and determined to make her life the exact same as it would even if she didn't have it. 
<img src="http://i72.photobucket.com/albums/i199/46willys/252542_664403198976_47501098_35066630_4011737_n.jpg">
<img src="http://i72.photobucket.com/albums/i199/46willys/IMG00300-20110601-2251.jpg">

2k2wranglerx · Jun 3, 2011

had some really tough news today. my wife took my 6 day old baby girl in to the Dr's for a normal weight check and her screening that they did at the hospital came back for cystic fibrosis. we are absolutely blindsided and shocked. There's no history in our families.
our Pediatrician did a horrible job explaining it to my wife. at least her mother was with her. he woudlnt give any straight answers. my neighbor is a general practicioner and came over and read the results with us and she has both recessive genes. so she does have it, but we're getting the sweat test on wednesday to confirm. 
Lots of tears today. it's hard to think that my beautiful little girlhas adisease, but my wife and i are both bound and determined to make her life the exact same as it would even if she didn't have it. 
<img src="http://i72.photobucket.com/albums/i199/46willys/252542_664403198976_47501098_35066630_4011737_n.jpg">
<img src="http://i72.photobucket.com/albums/i199/46willys/IMG00300-20110601-2251.jpg">

Mommafirst · Jun 3, 2011

I'm so sorry you got this horrible news today. We've all been there, and it is hard!! But it does get better. As you begin to know your daughter and see her as the person she is, not the dream you have for her to be, you will stop seeing a CF girl and start seeing a smart, beautiful girl who also happens to have CF. It will eventually just be a small part of who she is.

You've come to a good place. There are lots of knowledgeable people around here that have been in your shoes, and can help guide the way forward.

Your daughter is gorgeous. Congratulations!!! With good care right from the beginning, she could live a long, healthy life!!

Mommafirst · Jun 3, 2011

I'm so sorry you got this horrible news today. We've all been there, and it is hard!! But it does get better. As you begin to know your daughter and see her as the person she is, not the dream you have for her to be, you will stop seeing a CF girl and start seeing a smart, beautiful girl who also happens to have CF. It will eventually just be a small part of who she is.

You've come to a good place. There are lots of knowledgeable people around here that have been in your shoes, and can help guide the way forward.

Your daughter is gorgeous. Congratulations!!! With good care right from the beginning, she could live a long, healthy life!!

Mommafirst · Jun 3, 2011

I'm so sorry you got this horrible news today. We've all been there, and it is hard!! But it does get better. As you begin to know your daughter and see her as the person she is, not the dream you have for her to be, you will stop seeing a CF girl and start seeing a smart, beautiful girl who also happens to have CF. It will eventually just be a small part of who she is.
 
 You've come to a good place. There are lots of knowledgeable people around here that have been in your shoes, and can help guide the way forward.
 
 Your daughter is gorgeous. Congratulations!!! With good care right from the beginning, she could live a long, healthy life!!

sdelorenzo · Jun 4, 2011

Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to:
http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/
Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had.
Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf

sdelorenzo · Jun 4, 2011

Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to:
http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/
Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had.
Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf

sdelorenzo · Jun 4, 2011

Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to:
 http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/
 Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had.
 Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf

fourkidsmom · Jun 4, 2011

Welcome. Sorry to hear the diagnosis. My son was diagnosed when I was 7 months pregnant. I know how difficult this is for you and your family. Hang in there. We treat our son like every other child - he just has CF. You will feel overwhelmed but things will fall into place. This is a great site to come to for questions

Angie

fourkidsmom · Jun 4, 2011

Welcome. Sorry to hear the diagnosis. My son was diagnosed when I was 7 months pregnant. I know how difficult this is for you and your family. Hang in there. We treat our son like every other child - he just has CF. You will feel overwhelmed but things will fall into place. This is a great site to come to for questions

Angie

fourkidsmom · Jun 4, 2011

Welcome. Sorry to hear the diagnosis. My son was diagnosed when I was 7 months pregnant. I know how difficult this is for you and your family. Hang in there. We treat our son like every other child - he just has CF. You will feel overwhelmed but things will fall into place. This is a great site to come to for questions

Angie

mamaScarlett · Jun 4, 2011

Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.

mamaScarlett · Jun 4, 2011

Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.

mamaScarlett · Jun 4, 2011

Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.

2k2wranglerx · Jun 5, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: sdelorenzo Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to: http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/ Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had. Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf</end quote></div> 
 
Hi Sharon,
 
Pennsylvania does genetic testing at birth. She had a blood sample drawn and we recieved the results at her 1 week appointment. 
 
it was done by perker lemer genetics in pa. it says that immunoreactive trypsinogen = 398.5ng/ml blood
 
then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation. Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene. 
 
that might mean more to you than it does to me... but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it. His advice was to accept that she had it and if the sweat test showed otherwise than great. but to be prepared that she most likely has some form of CF...
 
Are we reading that all wrong?
 
thanks guys!
 
we are having a sweat test done weds to confirm that she does have CF.

2k2wranglerx · Jun 5, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: sdelorenzo Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to: http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/ Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had. Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf</end quote> 

Hi Sharon,

Pennsylvania does genetic testing at birth. She had a blood sample drawn and we recieved the results at her 1 week appointment. 

it was done by perker lemer genetics in pa. it says that immunoreactive trypsinogen = 398.5ng/ml blood

then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation. Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene. 

that might mean more to you than it does to me... but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it. His advice was to accept that she had it and if the sweat test showed otherwise than great. but to be prepared that she most likely has some form of CF...

Are we reading that all wrong?

thanks guys!

we are having a sweat test done weds to confirm that she does have CF.

2k2wranglerx · Jun 5, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: sdelorenzo Welcome. I thought the initial newborn screening was just an indication of those babies who carry one (a carrier) or possibly two CF genes (they would have the disease). A lot of these babies are identified as carriers and they do not actually having the disease. The only way a test can show a baby has CF (two genes) at less than a week old is by getting a sweat test or blood work done and sent off to a company like Ambry. I have had genetic testing done with my newborns and it is a difficult process and it takes about 10 days at the earliest to get back the results. I would highly suggest calling the closest CF center to you. I am assuming you live in the US. Go to: http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/ Ask to leave a message with the CF directors nurse. Explain everything to the nurse in the message. She should call you back and provide you with more information about the testing that your baby had. Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months no cf</end quote> 

Hi Sharon,

Pennsylvania does genetic testing at birth. She had a blood sample drawn and we recieved the results at her 1 week appointment. 

it was done by perker lemer genetics in pa. it says that immunoreactive trypsinogen = 398.5ng/ml blood

then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation. Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene. 

that might mean more to you than it does to me... but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it. His advice was to accept that she had it and if the sweat test showed otherwise than great. but to be prepared that she most likely has some form of CF...

Are we reading that all wrong?

thanks guys!

we are having a sweat test done weds to confirm that she does have CF.

2k2wranglerx · Jun 5, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: mamaScarlett Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.</end quote></div> 
 
Thanks so much for the helpful words of advice! it's hearing stories from people like you living with CF that really give us a lot of hope. My wife is 28 and i'm 30 so knowing people are living normal healthy lives and are the same age as us has been really comforting. 
 
 
 
Thanks so much to everyone for the words of encouragement! and thanks for the compliments on my baby girl!

2k2wranglerx · Jun 5, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: mamaScarlett Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.</end quote> 

Thanks so much for the helpful words of advice! it's hearing stories from people like you living with CF that really give us a lot of hope. My wife is 28 and i'm 30 so knowing people are living normal healthy lives and are the same age as us has been really comforting. 



Thanks so much to everyone for the words of encouragement! and thanks for the compliments on my baby girl!

my 6 day old daughter was just diagnosed

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