Mild Case of CF

P

proudparents76

New member
Hello everyone,

I've been a lurker for just about 7 months and finally got the nerve to post my daughter's story. I'm inspired by all of you and hope I will stay strong during this journey.

I apologize for the lenghthy message! Here is my daughter's story (Sophia). I hope to learn from your experiences and wisdom.

Sophia was born in May 2010 (our first- it took 2 yrs...a whole other story to tell) a healthy 9 lb baby girl. My husband and I were on cloud nine for 8 weeks, till we got that dreadful call from the CF clinic. Long story short, my daughters NBS, IRT was high, so the doctor initiated CF Genetic Testing (without us knowing). So I got the call from a CF nurse telling me my daughter had CF with 3 mutations (W1089X, G576A & R668C). Even though my daughter had no symptoms, they wanted to see her immediately. My world crumbled and I cried for several days. My husband and i refused to believe our little angel was sick...how could she be? She was a healthy baby with no symptoms.
So, we went to the CF clinic and the doc told us she had 3 mutations and he could not tell us how or when it will affect her. He also said it was a "mild case"- which brought us so much hope. The doc proceded to do more tests (which all came out fine) and they immediately ordered a sweat test (which came out negative 18/18). we had another appointment to see the doctor and he said since the sweat test came back negative, they couldn't diagnose her with CF (which confused me because she has 3 mutations- one from me and two from daddy- daddy has 2 on one chromosome...we later found out our results from Ambry).

I even contacted Steve, from Ambry to ask about the mutations and why my daughter wasn't Dx'd. This was before I knew what all her test results were, along with our genetic tests.
This is what he said:
"The dx of CF is a combination of all clinical findings and test results. Most likely the G576A and R668C are linked together on one chromosome. This is a mild mutation combination and with the other mutation can cause a range of symptoms from none to mild . In many of these cases, the symptoms may not even develop until later in childhood or even adulthood and in some cases might not develop. Every case is variable. My guess is the sweat test will be normal (technically) but probably in the higher range of so called normal.
I would also expect her to do fairly well, however only time will tell."

Since her sweat test was negative and she had no symptoms, our CF doctor said he couldn't diagnose her with classic CF, rather, he classified her as cystic fibrosis related metabolic disorder. He told us to look out for symptoms and immediately call him or take her in for treatment. Everyday for 7 months, i watched my daughter closely for symptoms, and nothing (each day is a blessing).
We had a follow up appointment at 8 months with CF doctor. Tests all came back normal, although her stool test was slightly elevated, but the doc said it was no concern (ugh). My daughter got another sweat test, results were 14/14. I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease.
She's nine months now, eats well, 90% in height and 60% in weight. There's not a moment that goes by that I look for a symptom.
Can anyone tell me what Mild CF symptoms are? And, how long did it take for your little one to show symptoms once diagnosed? Thank you for reading my posts.
This is a great website and Steve from Ambry has been very helpful in answering all of my questions!

Proud mamma to Sophia (Born 5/2010 3 mutations).
 
P

proudparents76

New member
Hello everyone,

I've been a lurker for just about 7 months and finally got the nerve to post my daughter's story. I'm inspired by all of you and hope I will stay strong during this journey.

I apologize for the lenghthy message! Here is my daughter's story (Sophia). I hope to learn from your experiences and wisdom.

Sophia was born in May 2010 (our first- it took 2 yrs...a whole other story to tell) a healthy 9 lb baby girl. My husband and I were on cloud nine for 8 weeks, till we got that dreadful call from the CF clinic. Long story short, my daughters NBS, IRT was high, so the doctor initiated CF Genetic Testing (without us knowing). So I got the call from a CF nurse telling me my daughter had CF with 3 mutations (W1089X, G576A & R668C). Even though my daughter had no symptoms, they wanted to see her immediately. My world crumbled and I cried for several days. My husband and i refused to believe our little angel was sick...how could she be? She was a healthy baby with no symptoms.
So, we went to the CF clinic and the doc told us she had 3 mutations and he could not tell us how or when it will affect her. He also said it was a "mild case"- which brought us so much hope. The doc proceded to do more tests (which all came out fine) and they immediately ordered a sweat test (which came out negative 18/18). we had another appointment to see the doctor and he said since the sweat test came back negative, they couldn't diagnose her with CF (which confused me because she has 3 mutations- one from me and two from daddy- daddy has 2 on one chromosome...we later found out our results from Ambry).

I even contacted Steve, from Ambry to ask about the mutations and why my daughter wasn't Dx'd. This was before I knew what all her test results were, along with our genetic tests.
This is what he said:
"The dx of CF is a combination of all clinical findings and test results. Most likely the G576A and R668C are linked together on one chromosome. This is a mild mutation combination and with the other mutation can cause a range of symptoms from none to mild . In many of these cases, the symptoms may not even develop until later in childhood or even adulthood and in some cases might not develop. Every case is variable. My guess is the sweat test will be normal (technically) but probably in the higher range of so called normal.
I would also expect her to do fairly well, however only time will tell."

Since her sweat test was negative and she had no symptoms, our CF doctor said he couldn't diagnose her with classic CF, rather, he classified her as cystic fibrosis related metabolic disorder. He told us to look out for symptoms and immediately call him or take her in for treatment. Everyday for 7 months, i watched my daughter closely for symptoms, and nothing (each day is a blessing).
We had a follow up appointment at 8 months with CF doctor. Tests all came back normal, although her stool test was slightly elevated, but the doc said it was no concern (ugh). My daughter got another sweat test, results were 14/14. I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease.
She's nine months now, eats well, 90% in height and 60% in weight. There's not a moment that goes by that I look for a symptom.
Can anyone tell me what Mild CF symptoms are? And, how long did it take for your little one to show symptoms once diagnosed? Thank you for reading my posts.
This is a great website and Steve from Ambry has been very helpful in answering all of my questions!

Proud mamma to Sophia (Born 5/2010 3 mutations).
 
P

proudparents76

New member
Hello everyone,
<br />
<br />I've been a lurker for just about 7 months and finally got the nerve to post my daughter's story. I'm inspired by all of you and hope I will stay strong during this journey.
<br />
<br />I apologize for the lenghthy message! Here is my daughter's story (Sophia). I hope to learn from your experiences and wisdom.
<br />
<br />Sophia was born in May 2010 (our first- it took 2 yrs...a whole other story to tell) a healthy 9 lb baby girl. My husband and I were on cloud nine for 8 weeks, till we got that dreadful call from the CF clinic. Long story short, my daughters NBS, IRT was high, so the doctor initiated CF Genetic Testing (without us knowing). So I got the call from a CF nurse telling me my daughter had CF with 3 mutations (W1089X, G576A & R668C). Even though my daughter had no symptoms, they wanted to see her immediately. My world crumbled and I cried for several days. My husband and i refused to believe our little angel was sick...how could she be? She was a healthy baby with no symptoms.
<br />So, we went to the CF clinic and the doc told us she had 3 mutations and he could not tell us how or when it will affect her. He also said it was a "mild case"- which brought us so much hope. The doc proceded to do more tests (which all came out fine) and they immediately ordered a sweat test (which came out negative 18/18). we had another appointment to see the doctor and he said since the sweat test came back negative, they couldn't diagnose her with CF (which confused me because she has 3 mutations- one from me and two from daddy- daddy has 2 on one chromosome...we later found out our results from Ambry).
<br />
<br />I even contacted Steve, from Ambry to ask about the mutations and why my daughter wasn't Dx'd. This was before I knew what all her test results were, along with our genetic tests.
<br />This is what he said:
<br />"The dx of CF is a combination of all clinical findings and test results. Most likely the G576A and R668C are linked together on one chromosome. This is a mild mutation combination and with the other mutation can cause a range of symptoms from none to mild . In many of these cases, the symptoms may not even develop until later in childhood or even adulthood and in some cases might not develop. Every case is variable. My guess is the sweat test will be normal (technically) but probably in the higher range of so called normal.
<br />I would also expect her to do fairly well, however only time will tell."
<br />
<br />Since her sweat test was negative and she had no symptoms, our CF doctor said he couldn't diagnose her with classic CF, rather, he classified her as cystic fibrosis related metabolic disorder. He told us to look out for symptoms and immediately call him or take her in for treatment. Everyday for 7 months, i watched my daughter closely for symptoms, and nothing (each day is a blessing).
<br />We had a follow up appointment at 8 months with CF doctor. Tests all came back normal, although her stool test was slightly elevated, but the doc said it was no concern (ugh). My daughter got another sweat test, results were 14/14. I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease.
<br />She's nine months now, eats well, 90% in height and 60% in weight. There's not a moment that goes by that I look for a symptom.
<br />Can anyone tell me what Mild CF symptoms are? And, how long did it take for your little one to show symptoms once diagnosed? Thank you for reading my posts.
<br />This is a great website and Steve from Ambry has been very helpful in answering all of my questions!
<br />
<br />Proud mamma to Sophia (Born 5/2010 3 mutations).
 
H

hmw

New member
Hello and welcome! <img src="i/expressions/rose.gif" border="0">

First of all, I didn't want you to feel like your daughter's genetic testing was something that was done somehow in an underhanded manner (you mentioned you didn't know about it.) In your state, elevated IRT levels automatically proceeds to genetic testing as part of the newborn screening process. It's actually a very comprehensive way to perform NBS and I wish all states did it this way!

I am very glad to know that thus far your child is doing very well. I hope that she continues to be very healthy. It's impossible to predict future outcome based on how someone is doing right NOW given how changeable the disease can be. I wish there was more by way of predictive factors, but even those with identical mutations can vary dramatically in their disease course due to other modifying factors, so it's just impossible to know. My daughter had no treatment as a baby (was not dx'ed) and was very healthy as a baby and young toddler- nothing about her would have given anyone the idea she had CF. She was chubby and much healthier than one of her non-cf brothers was as an infant. Symptoms didn't start for her until age 3ish.

<div class="FTQUOTE"><begin quote>I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease. </end quote></div>
It is good that you DO have that prepared mindset that someday CF will manifest itself. It's not morbid or negative, it's just how it is and for the best to come to terms with it and good that you understand. In the meantime I hope that a long time passes before she does, but I'm so glad you have had the benefit of an early dx and KNOW what to look for. We didn't for a long time and my daughter suffered for it.

The best way to give your child the greatest odds of a healthy future is with preventative care and seeing a care team at a proactive center.
 
H

hmw

New member
Hello and welcome! <img src="i/expressions/rose.gif" border="0">

First of all, I didn't want you to feel like your daughter's genetic testing was something that was done somehow in an underhanded manner (you mentioned you didn't know about it.) In your state, elevated IRT levels automatically proceeds to genetic testing as part of the newborn screening process. It's actually a very comprehensive way to perform NBS and I wish all states did it this way!

I am very glad to know that thus far your child is doing very well. I hope that she continues to be very healthy. It's impossible to predict future outcome based on how someone is doing right NOW given how changeable the disease can be. I wish there was more by way of predictive factors, but even those with identical mutations can vary dramatically in their disease course due to other modifying factors, so it's just impossible to know. My daughter had no treatment as a baby (was not dx'ed) and was very healthy as a baby and young toddler- nothing about her would have given anyone the idea she had CF. She was chubby and much healthier than one of her non-cf brothers was as an infant. Symptoms didn't start for her until age 3ish.

<div class="FTQUOTE"><begin quote>I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease. </end quote>
It is good that you DO have that prepared mindset that someday CF will manifest itself. It's not morbid or negative, it's just how it is and for the best to come to terms with it and good that you understand. In the meantime I hope that a long time passes before she does, but I'm so glad you have had the benefit of an early dx and KNOW what to look for. We didn't for a long time and my daughter suffered for it.

The best way to give your child the greatest odds of a healthy future is with preventative care and seeing a care team at a proactive center.
 
H

hmw

New member
Hello and welcome! <img src="i/expressions/rose.gif" border="0">
<br />
<br />First of all, I didn't want you to feel like your daughter's genetic testing was something that was done somehow in an underhanded manner (you mentioned you didn't know about it.) In your state, elevated IRT levels automatically proceeds to genetic testing as part of the newborn screening process. It's actually a very comprehensive way to perform NBS and I wish all states did it this way!
<br />
<br />I am very glad to know that thus far your child is doing very well. I hope that she continues to be very healthy. It's impossible to predict future outcome based on how someone is doing right NOW given how changeable the disease can be. I wish there was more by way of predictive factors, but even those with identical mutations can vary dramatically in their disease course due to other modifying factors, so it's just impossible to know. My daughter had no treatment as a baby (was not dx'ed) and was very healthy as a baby and young toddler- nothing about her would have given anyone the idea she had CF. She was chubby and much healthier than one of her non-cf brothers was as an infant. Symptoms didn't start for her until age 3ish.
<br />
<br /><div class="FTQUOTE"><begin quote>I am thankful for each day my daughter shows no symptoms and I try to focus on those days. However, I can't help but know that she will show symptoms one day, as CF is a progressive disease. </end quote>
<br />It is good that you DO have that prepared mindset that someday CF will manifest itself. It's not morbid or negative, it's just how it is and for the best to come to terms with it and good that you understand. In the meantime I hope that a long time passes before she does, but I'm so glad you have had the benefit of an early dx and KNOW what to look for. We didn't for a long time and my daughter suffered for it.
<br />
<br />The best way to give your child the greatest odds of a healthy future is with preventative care and seeing a care team at a proactive center.
<br />
<br />
<br />
 
P

proudparents76

New member
Hi HMW and thank you for the warm welcome. I appreciate your honesty and have read many of your posts.

Not at all did I think the genetic testing was done in an underhanded manner. I was just so caught off gaurd with the news. We are very lucky our doctor took action quickly and sent her bloodwork to Ambry (they tested all 1500+ mutations). This happened so fast and we were so overwhelmed. My husband and I feel very fortunate to have had all the testing done before any symptoms occur. It's just so overwhelming, we didn't even know what CF was until we got the phone call(no one in our family has it).

I agree! Preventative care is important. Reading everyone's stories makes me feel like I'm not alone AND helps me understand what I'm up against.
 
P

proudparents76

New member
Hi HMW and thank you for the warm welcome. I appreciate your honesty and have read many of your posts.

Not at all did I think the genetic testing was done in an underhanded manner. I was just so caught off gaurd with the news. We are very lucky our doctor took action quickly and sent her bloodwork to Ambry (they tested all 1500+ mutations). This happened so fast and we were so overwhelmed. My husband and I feel very fortunate to have had all the testing done before any symptoms occur. It's just so overwhelming, we didn't even know what CF was until we got the phone call(no one in our family has it).

I agree! Preventative care is important. Reading everyone's stories makes me feel like I'm not alone AND helps me understand what I'm up against.
 
P

proudparents76

New member
Hi HMW and thank you for the warm welcome. I appreciate your honesty and have read many of your posts.
<br />
<br />Not at all did I think the genetic testing was done in an underhanded manner. I was just so caught off gaurd with the news. We are very lucky our doctor took action quickly and sent her bloodwork to Ambry (they tested all 1500+ mutations). This happened so fast and we were so overwhelmed. My husband and I feel very fortunate to have had all the testing done before any symptoms occur. It's just so overwhelming, we didn't even know what CF was until we got the phone call(no one in our family has it).
<br />
<br />I agree! Preventative care is important. Reading everyone's stories makes me feel like I'm not alone AND helps me understand what I'm up against.
 
H

hmw

New member
I agree, it's very overwhelming. CF came as a total surprise to us, too, even though by the time she was dx'ed she was quite ill we never once considered THAT as a possibility! When a specialist she'd been referred to for her growth failure suggested a sweat test, I was floored... and then just a few days after first being presented with the possibility that my child could have it, we had our dx. It was completely shocking to have that thrown at us out of left field. When your child is completely healthy I can only imagine how much greater the shock would be.

I agree that being able to read from so many others here means so much!
 
H

hmw

New member
I agree, it's very overwhelming. CF came as a total surprise to us, too, even though by the time she was dx'ed she was quite ill we never once considered THAT as a possibility! When a specialist she'd been referred to for her growth failure suggested a sweat test, I was floored... and then just a few days after first being presented with the possibility that my child could have it, we had our dx. It was completely shocking to have that thrown at us out of left field. When your child is completely healthy I can only imagine how much greater the shock would be.

I agree that being able to read from so many others here means so much!
 
H

hmw

New member
I agree, it's very overwhelming. CF came as a total surprise to us, too, even though by the time she was dx'ed she was quite ill we never once considered THAT as a possibility! When a specialist she'd been referred to for her growth failure suggested a sweat test, I was floored... and then just a few days after first being presented with the possibility that my child could have it, we had our dx. It was completely shocking to have that thrown at us out of left field. When your child is completely healthy I can only imagine how much greater the shock would be.
<br />
<br />I agree that being able to read from so many others here means so much!
 
K

kmhbeauty

New member
Hello, I too have a mild form of cf. One of my mutations is df508 and not sure of the other one. They want to test me again soon. I was dx at 15 years of age. Never had anything really bad wrong besides collic as a baby, and digestive problems all throughout my life. Even though I had the digestive problems I was always at a good weight and now at the age of 25 I have to work to keep the weight down. Not fat at all but a little chubby. I have never done any form of medicine until last week when I started the hyprotonic salene. Until the age of 24 I was very immature and wanted to forget the disease but now I am focused on getting the best lung function I can. I exercise as much as possible and eat extreamly healthy. I hope my story of a non medicine life will give you hope that is it possibele to remain healthy with this disease. My main goal now is to get my lung function into the 90s-100s.
 
K

kmhbeauty

New member
Hello, I too have a mild form of cf. One of my mutations is df508 and not sure of the other one. They want to test me again soon. I was dx at 15 years of age. Never had anything really bad wrong besides collic as a baby, and digestive problems all throughout my life. Even though I had the digestive problems I was always at a good weight and now at the age of 25 I have to work to keep the weight down. Not fat at all but a little chubby. I have never done any form of medicine until last week when I started the hyprotonic salene. Until the age of 24 I was very immature and wanted to forget the disease but now I am focused on getting the best lung function I can. I exercise as much as possible and eat extreamly healthy. I hope my story of a non medicine life will give you hope that is it possibele to remain healthy with this disease. My main goal now is to get my lung function into the 90s-100s.
 
K

kmhbeauty

New member
Hello, I too have a mild form of cf. One of my mutations is df508 and not sure of the other one. They want to test me again soon. I was dx at 15 years of age. Never had anything really bad wrong besides collic as a baby, and digestive problems all throughout my life. Even though I had the digestive problems I was always at a good weight and now at the age of 25 I have to work to keep the weight down. Not fat at all but a little chubby. I have never done any form of medicine until last week when I started the hyprotonic salene. Until the age of 24 I was very immature and wanted to forget the disease but now I am focused on getting the best lung function I can. I exercise as much as possible and eat extreamly healthy. I hope my story of a non medicine life will give you hope that is it possibele to remain healthy with this disease. My main goal now is to get my lung function into the 90s-100s.
 
K

kaylinsmom

Member
Hi,

My daughter also has the mutation G576A with no others found. Her sweat tests were 30 and 44. She has classic by the book symtpoms. But, without a positive sweat test and only 1 mutation found they are not diagnosing her yet. We are trying to get her gi problems under control first. If my daughter's pulmo does decide to call a diagnosis, I am assuming her's would be a mild form too because of only one mutation. Cf is so strange and complicated, well at least the diagnosing. Hope your daughter continues to do well!
 
K

kaylinsmom

Member
Hi,

My daughter also has the mutation G576A with no others found. Her sweat tests were 30 and 44. She has classic by the book symtpoms. But, without a positive sweat test and only 1 mutation found they are not diagnosing her yet. We are trying to get her gi problems under control first. If my daughter's pulmo does decide to call a diagnosis, I am assuming her's would be a mild form too because of only one mutation. Cf is so strange and complicated, well at least the diagnosing. Hope your daughter continues to do well!
 
K

kaylinsmom

Member
Hi,
<br />
<br />My daughter also has the mutation G576A with no others found. Her sweat tests were 30 and 44. She has classic by the book symtpoms. But, without a positive sweat test and only 1 mutation found they are not diagnosing her yet. We are trying to get her gi problems under control first. If my daughter's pulmo does decide to call a diagnosis, I am assuming her's would be a mild form too because of only one mutation. Cf is so strange and complicated, well at least the diagnosing. Hope your daughter continues to do well!
 
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