Newborn diagnosed with CF

[CFHockeyMom]

First, welcome to our "home". The CF diagnosis is tough but as you'll see here, it's not the end of the world. There is so much love, support, and information here that for many of us, well, it's the only place we can talk to people that truly understand.

Now as for your questions...

DF508 is considered a Class II mutation which results in defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

R117H is typically considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency. However if the variant on the R117H is associated with a 5T versus a 7T or 9T then it is usually presents as more classic CF.

Here is some info Allie posted on gene classes and a study that looked into gene/class combinations...

Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.


And as I've said many times...

<div class="FTQUOTE"><begin quote>We have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, bacteria cultured, and luck all contribute to clinical outcome.

A lot of parent's of newly diagnosed CFer's are keen to know what their child's genes/mutations will mean for their child in terms of clinical outcome. Unfortunately, genes/mutations don't necessarily predict clinical outcome and at the end of the day, all you really know is that your child has CF.

Regardless of gene class/type or symptoms, I encourage you to be very proactive with your daughters care. When it comes to CF the old saying, "An ounce of prevention is worth a pound of cure", couldn't be more true.</end quote></div>

 

[CFHockeyMom]

First, welcome to our "home". The CF diagnosis is tough but as you'll see here, it's not the end of the world. There is so much love, support, and information here that for many of us, well, it's the only place we can talk to people that truly understand.

Now as for your questions...

DF508 is considered a Class II mutation which results in defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

R117H is typically considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency. However if the variant on the R117H is associated with a 5T versus a 7T or 9T then it is usually presents as more classic CF.

Here is some info Allie posted on gene classes and a study that looked into gene/class combinations...

Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.


And as I've said many times...

<div class="FTQUOTE"><begin quote>We have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, bacteria cultured, and luck all contribute to clinical outcome.

A lot of parent's of newly diagnosed CFer's are keen to know what their child's genes/mutations will mean for their child in terms of clinical outcome. Unfortunately, genes/mutations don't necessarily predict clinical outcome and at the end of the day, all you really know is that your child has CF.

Regardless of gene class/type or symptoms, I encourage you to be very proactive with your daughters care. When it comes to CF the old saying, "An ounce of prevention is worth a pound of cure", couldn't be more true.</end quote></div>

 

[CFHockeyMom]

First, welcome to our "home". The CF diagnosis is tough but as you'll see here, it's not the end of the world. There is so much love, support, and information here that for many of us, well, it's the only place we can talk to people that truly understand.

Now as for your questions...

DF508 is considered a Class II mutation which results in defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

R117H is typically considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency. However if the variant on the R117H is associated with a 5T versus a 7T or 9T then it is usually presents as more classic CF.

Here is some info Allie posted on gene classes and a study that looked into gene/class combinations...

Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.


And as I've said many times...

<div class="FTQUOTE"><begin quote>We have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, bacteria cultured, and luck all contribute to clinical outcome.

A lot of parent's of newly diagnosed CFer's are keen to know what their child's genes/mutations will mean for their child in terms of clinical outcome. Unfortunately, genes/mutations don't necessarily predict clinical outcome and at the end of the day, all you really know is that your child has CF.

Regardless of gene class/type or symptoms, I encourage you to be very proactive with your daughters care. When it comes to CF the old saying, "An ounce of prevention is worth a pound of cure", couldn't be more true.</end quote></div>

 

[CFHockeyMom]

First, welcome to our "home". The CF diagnosis is tough but as you'll see here, it's not the end of the world. There is so much love, support, and information here that for many of us, well, it's the only place we can talk to people that truly understand.

Now as for your questions...

DF508 is considered a Class II mutation which results in defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

R117H is typically considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency. However if the variant on the R117H is associated with a 5T versus a 7T or 9T then it is usually presents as more classic CF.

Here is some info Allie posted on gene classes and a study that looked into gene/class combinations...

Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.


And as I've said many times...

<div class="FTQUOTE"><begin quote>We have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, bacteria cultured, and luck all contribute to clinical outcome.

A lot of parent's of newly diagnosed CFer's are keen to know what their child's genes/mutations will mean for their child in terms of clinical outcome. Unfortunately, genes/mutations don't necessarily predict clinical outcome and at the end of the day, all you really know is that your child has CF.

Regardless of gene class/type or symptoms, I encourage you to be very proactive with your daughters care. When it comes to CF the old saying, "An ounce of prevention is worth a pound of cure", couldn't be more true.</end quote>

 

[CFHockeyMom]

First, welcome to our "home". The CF diagnosis is tough but as you'll see here, it's not the end of the world. There is so much love, support, and information here that for many of us, well, it's the only place we can talk to people that truly understand.

Now as for your questions...

DF508 is considered a Class II mutation which results in defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function.

R117H is typically considered a Class IV mutation which results in a normal amount of functional CFTR at the cell membrane, but chloride conductance is reduced. These mutations are generally associated with a pancreatic sufficiency. However if the variant on the R117H is associated with a 5T versus a 7T or 9T then it is usually presents as more classic CF.

Here is some info Allie posted on gene classes and a study that looked into gene/class combinations...

Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es

BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.


And as I've said many times...

<div class="FTQUOTE"><begin quote>We have plenty of people on the forum here that have the same genotypes but completely different clinical outcomes. Environment, compliance, quality of care, bacteria cultured, and luck all contribute to clinical outcome.

A lot of parent's of newly diagnosed CFer's are keen to know what their child's genes/mutations will mean for their child in terms of clinical outcome. Unfortunately, genes/mutations don't necessarily predict clinical outcome and at the end of the day, all you really know is that your child has CF.

Regardless of gene class/type or symptoms, I encourage you to be very proactive with your daughters care. When it comes to CF the old saying, "An ounce of prevention is worth a pound of cure", couldn't be more true.</end quote>

 

[nlwlrandall]

Thank you so much for the love and support. It's barely been 24 hours since we found out so it hasnt quite sunk in yet. I guess I just don't know what to think. I want my children to well outlive me. I'm just wishing for the best on monday at the appt.

Thanks again, Laura

 

[nlwlrandall]

Thank you so much for the love and support. It's barely been 24 hours since we found out so it hasnt quite sunk in yet. I guess I just don't know what to think. I want my children to well outlive me. I'm just wishing for the best on monday at the appt.

Thanks again, Laura

 

[nlwlrandall]

Thank you so much for the love and support. It's barely been 24 hours since we found out so it hasnt quite sunk in yet. I guess I just don't know what to think. I want my children to well outlive me. I'm just wishing for the best on monday at the appt.

Thanks again, Laura

 

[nlwlrandall]

Thank you so much for the love and support. It's barely been 24 hours since we found out so it hasnt quite sunk in yet. I guess I just don't know what to think. I want my children to well outlive me. I'm just wishing for the best on monday at the appt.

Thanks again, Laura

 

[nlwlrandall]

Thank you so much for the love and support. It's barely been 24 hours since we found out so it hasnt quite sunk in yet. I guess I just don't know what to think. I want my children to well outlive me. I'm just wishing for the best on monday at the appt.

Thanks again, Laura

 

[Alyssa]

Please read the first entry on my blog page - <b>my kids have the same mutations as your child.</b> There are several other people on this site that also have those two mutations. I have become very good friends with a woman in her 30's (Marci - I think her username is marcijo) who is very similar to my daughter's presentation of CF. Below is some information about the<b> three adults with CF </b> that I know quite a bit about.....

Nobody can say for sure what will happen.... and all the usual disclaimers apply (everyone is different, other factors contribute to clinical outcomes, you cannot say for sure what will happen just because you have a certain gene, things can and do change rapidly) yadda yadda yadda <b>but</b>, having said all of that, I can tell you what I know has happened to my two kids and Marci, so you will have an idea of how things have shaped up so far. All three of these people with CF are pancreatic sufficient (something that is commonly associated with the R117H gene and helps to contribute to their overall health) They do not have any problems absorbing the nutrients from the food they eat. If they get a lung infection it is usually staph, which they clear with just oral antibiotics. None of them have had to go on IV antibiotics yet and none of them have much, if any, permanent lung damage. All three of them do similar preventative treatments which include:

1) Pulmozyme (inhaled drug that helps to thin mucus in the lungs)
2) Advair, Symbicort or Flovent (puffer drug for asthma symptoms to help keep swelling in the bronchial tubes down and help open up the smaller bronchial tubes as well)
3) Hypertonic Saline (inhaled to help bring more moister to the lining of the lungs to help move mucus out of the lungs)
4) The Vest (vibrates the lungs to help bring out the mucus and keep the lungs clear)

My daughter is 19 years old and is doing very very well. Her Pulmonary function tests are always well over 100% (116% most of the time) She hasn't had a lung infection in a couple of years. She has only had Pseudomonas aeruginosa once when she was 15 years old and so far it has never come back. She went to college for a couple of years, she is now working a full time job + a few extra hours at her part time job and living in her own apartment. We expect for her to have a long and healthy life, get married and have kids whenever she feels like it

Marci is 30 something years old, married and has two children under the age of 6. She has only had two bouts with Pseudomonas aeruginosa (each time when she got pregnant) She too has gone quite some time without a lung infection and has not seen another Pseudomonas aeruginosa infection in many years. She works part time by choice, and is a very active mom and wife.

My son is 21 years old and just started treatments last month. We had never seen any CF symptoms before now so there was nothing to do. He most likely has the lack of vas deferins (tubes that carry the sperm out) so having children 'the normal way' will probably not be an option for him but sperm retrieval for in vitro would be. He has very little interest at this point in finding out for sure so we don't know yet. Aside from the CF, his larger issues are with Autism Spectrum Developmental Delay. My guess would be this will be more likely to cause him to not go on to having a wife or children than the CF would. But who knows! The one sure thing is change....

Anyway... my point to all this rambling on and giving examples of all three of these peoples personal lives is to let you know that yes, people with CF, grow up, go to college, work, live, have families and can live long lives. I know of several people who are in their 50's 60's & even 70's now, so don't be so sure you will out live your daughter. You also have the benefit of finding out sooner rather than later and you can skip right over that period of not knowing how to treat problems because nobody knows she has CF. She will benefit from getting started on the necessary preventative treatments early. I know it sucks big time to be given a diagnosis of CF - it will get easier to cope with the mental games we all play in our heads, over time. Knowledge and understanding help... stick around this website, there is a lot of information and support here.

If you have any more questions, please feel free to ask either here or though the private message feature.

 

[Alyssa]

Please read the first entry on my blog page - <b>my kids have the same mutations as your child.</b> There are several other people on this site that also have those two mutations. I have become very good friends with a woman in her 30's (Marci - I think her username is marcijo) who is very similar to my daughter's presentation of CF. Below is some information about the<b> three adults with CF </b> that I know quite a bit about.....

Nobody can say for sure what will happen.... and all the usual disclaimers apply (everyone is different, other factors contribute to clinical outcomes, you cannot say for sure what will happen just because you have a certain gene, things can and do change rapidly) yadda yadda yadda <b>but</b>, having said all of that, I can tell you what I know has happened to my two kids and Marci, so you will have an idea of how things have shaped up so far. All three of these people with CF are pancreatic sufficient (something that is commonly associated with the R117H gene and helps to contribute to their overall health) They do not have any problems absorbing the nutrients from the food they eat. If they get a lung infection it is usually staph, which they clear with just oral antibiotics. None of them have had to go on IV antibiotics yet and none of them have much, if any, permanent lung damage. All three of them do similar preventative treatments which include:

1) Pulmozyme (inhaled drug that helps to thin mucus in the lungs)
2) Advair, Symbicort or Flovent (puffer drug for asthma symptoms to help keep swelling in the bronchial tubes down and help open up the smaller bronchial tubes as well)
3) Hypertonic Saline (inhaled to help bring more moister to the lining of the lungs to help move mucus out of the lungs)
4) The Vest (vibrates the lungs to help bring out the mucus and keep the lungs clear)

My daughter is 19 years old and is doing very very well. Her Pulmonary function tests are always well over 100% (116% most of the time) She hasn't had a lung infection in a couple of years. She has only had Pseudomonas aeruginosa once when she was 15 years old and so far it has never come back. She went to college for a couple of years, she is now working a full time job + a few extra hours at her part time job and living in her own apartment. We expect for her to have a long and healthy life, get married and have kids whenever she feels like it

Marci is 30 something years old, married and has two children under the age of 6. She has only had two bouts with Pseudomonas aeruginosa (each time when she got pregnant) She too has gone quite some time without a lung infection and has not seen another Pseudomonas aeruginosa infection in many years. She works part time by choice, and is a very active mom and wife.

My son is 21 years old and just started treatments last month. We had never seen any CF symptoms before now so there was nothing to do. He most likely has the lack of vas deferins (tubes that carry the sperm out) so having children 'the normal way' will probably not be an option for him but sperm retrieval for in vitro would be. He has very little interest at this point in finding out for sure so we don't know yet. Aside from the CF, his larger issues are with Autism Spectrum Developmental Delay. My guess would be this will be more likely to cause him to not go on to having a wife or children than the CF would. But who knows! The one sure thing is change....

Anyway... my point to all this rambling on and giving examples of all three of these peoples personal lives is to let you know that yes, people with CF, grow up, go to college, work, live, have families and can live long lives. I know of several people who are in their 50's 60's & even 70's now, so don't be so sure you will out live your daughter. You also have the benefit of finding out sooner rather than later and you can skip right over that period of not knowing how to treat problems because nobody knows she has CF. She will benefit from getting started on the necessary preventative treatments early. I know it sucks big time to be given a diagnosis of CF - it will get easier to cope with the mental games we all play in our heads, over time. Knowledge and understanding help... stick around this website, there is a lot of information and support here.

If you have any more questions, please feel free to ask either here or though the private message feature.

 

[Alyssa]

Please read the first entry on my blog page - <b>my kids have the same mutations as your child.</b> There are several other people on this site that also have those two mutations. I have become very good friends with a woman in her 30's (Marci - I think her username is marcijo) who is very similar to my daughter's presentation of CF. Below is some information about the<b> three adults with CF </b> that I know quite a bit about.....

Nobody can say for sure what will happen.... and all the usual disclaimers apply (everyone is different, other factors contribute to clinical outcomes, you cannot say for sure what will happen just because you have a certain gene, things can and do change rapidly) yadda yadda yadda <b>but</b>, having said all of that, I can tell you what I know has happened to my two kids and Marci, so you will have an idea of how things have shaped up so far. All three of these people with CF are pancreatic sufficient (something that is commonly associated with the R117H gene and helps to contribute to their overall health) They do not have any problems absorbing the nutrients from the food they eat. If they get a lung infection it is usually staph, which they clear with just oral antibiotics. None of them have had to go on IV antibiotics yet and none of them have much, if any, permanent lung damage. All three of them do similar preventative treatments which include:

1) Pulmozyme (inhaled drug that helps to thin mucus in the lungs)
2) Advair, Symbicort or Flovent (puffer drug for asthma symptoms to help keep swelling in the bronchial tubes down and help open up the smaller bronchial tubes as well)
3) Hypertonic Saline (inhaled to help bring more moister to the lining of the lungs to help move mucus out of the lungs)
4) The Vest (vibrates the lungs to help bring out the mucus and keep the lungs clear)

My daughter is 19 years old and is doing very very well. Her Pulmonary function tests are always well over 100% (116% most of the time) She hasn't had a lung infection in a couple of years. She has only had Pseudomonas aeruginosa once when she was 15 years old and so far it has never come back. She went to college for a couple of years, she is now working a full time job + a few extra hours at her part time job and living in her own apartment. We expect for her to have a long and healthy life, get married and have kids whenever she feels like it

Marci is 30 something years old, married and has two children under the age of 6. She has only had two bouts with Pseudomonas aeruginosa (each time when she got pregnant) She too has gone quite some time without a lung infection and has not seen another Pseudomonas aeruginosa infection in many years. She works part time by choice, and is a very active mom and wife.

My son is 21 years old and just started treatments last month. We had never seen any CF symptoms before now so there was nothing to do. He most likely has the lack of vas deferins (tubes that carry the sperm out) so having children 'the normal way' will probably not be an option for him but sperm retrieval for in vitro would be. He has very little interest at this point in finding out for sure so we don't know yet. Aside from the CF, his larger issues are with Autism Spectrum Developmental Delay. My guess would be this will be more likely to cause him to not go on to having a wife or children than the CF would. But who knows! The one sure thing is change....

Anyway... my point to all this rambling on and giving examples of all three of these peoples personal lives is to let you know that yes, people with CF, grow up, go to college, work, live, have families and can live long lives. I know of several people who are in their 50's 60's & even 70's now, so don't be so sure you will out live your daughter. You also have the benefit of finding out sooner rather than later and you can skip right over that period of not knowing how to treat problems because nobody knows she has CF. She will benefit from getting started on the necessary preventative treatments early. I know it sucks big time to be given a diagnosis of CF - it will get easier to cope with the mental games we all play in our heads, over time. Knowledge and understanding help... stick around this website, there is a lot of information and support here.

If you have any more questions, please feel free to ask either here or though the private message feature.

 

[Alyssa]

Please read the first entry on my blog page - <b>my kids have the same mutations as your child.</b> There are several other people on this site that also have those two mutations. I have become very good friends with a woman in her 30's (Marci - I think her username is marcijo) who is very similar to my daughter's presentation of CF. Below is some information about the<b> three adults with CF </b> that I know quite a bit about.....

Nobody can say for sure what will happen.... and all the usual disclaimers apply (everyone is different, other factors contribute to clinical outcomes, you cannot say for sure what will happen just because you have a certain gene, things can and do change rapidly) yadda yadda yadda <b>but</b>, having said all of that, I can tell you what I know has happened to my two kids and Marci, so you will have an idea of how things have shaped up so far. All three of these people with CF are pancreatic sufficient (something that is commonly associated with the R117H gene and helps to contribute to their overall health) They do not have any problems absorbing the nutrients from the food they eat. If they get a lung infection it is usually staph, which they clear with just oral antibiotics. None of them have had to go on IV antibiotics yet and none of them have much, if any, permanent lung damage. All three of them do similar preventative treatments which include:

1) Pulmozyme (inhaled drug that helps to thin mucus in the lungs)
2) Advair, Symbicort or Flovent (puffer drug for asthma symptoms to help keep swelling in the bronchial tubes down and help open up the smaller bronchial tubes as well)
3) Hypertonic Saline (inhaled to help bring more moister to the lining of the lungs to help move mucus out of the lungs)
4) The Vest (vibrates the lungs to help bring out the mucus and keep the lungs clear)

My daughter is 19 years old and is doing very very well. Her Pulmonary function tests are always well over 100% (116% most of the time) She hasn't had a lung infection in a couple of years. She has only had Pseudomonas aeruginosa once when she was 15 years old and so far it has never come back. She went to college for a couple of years, she is now working a full time job + a few extra hours at her part time job and living in her own apartment. We expect for her to have a long and healthy life, get married and have kids whenever she feels like it

Marci is 30 something years old, married and has two children under the age of 6. She has only had two bouts with Pseudomonas aeruginosa (each time when she got pregnant) She too has gone quite some time without a lung infection and has not seen another Pseudomonas aeruginosa infection in many years. She works part time by choice, and is a very active mom and wife.

My son is 21 years old and just started treatments last month. We had never seen any CF symptoms before now so there was nothing to do. He most likely has the lack of vas deferins (tubes that carry the sperm out) so having children 'the normal way' will probably not be an option for him but sperm retrieval for in vitro would be. He has very little interest at this point in finding out for sure so we don't know yet. Aside from the CF, his larger issues are with Autism Spectrum Developmental Delay. My guess would be this will be more likely to cause him to not go on to having a wife or children than the CF would. But who knows! The one sure thing is change....

Anyway... my point to all this rambling on and giving examples of all three of these peoples personal lives is to let you know that yes, people with CF, grow up, go to college, work, live, have families and can live long lives. I know of several people who are in their 50's 60's & even 70's now, so don't be so sure you will out live your daughter. You also have the benefit of finding out sooner rather than later and you can skip right over that period of not knowing how to treat problems because nobody knows she has CF. She will benefit from getting started on the necessary preventative treatments early. I know it sucks big time to be given a diagnosis of CF - it will get easier to cope with the mental games we all play in our heads, over time. Knowledge and understanding help... stick around this website, there is a lot of information and support here.

If you have any more questions, please feel free to ask either here or though the private message feature.

 

[Alyssa]

Please read the first entry on my blog page - <b>my kids have the same mutations as your child.</b> There are several other people on this site that also have those two mutations. I have become very good friends with a woman in her 30's (Marci - I think her username is marcijo) who is very similar to my daughter's presentation of CF. Below is some information about the<b> three adults with CF </b> that I know quite a bit about.....

Nobody can say for sure what will happen.... and all the usual disclaimers apply (everyone is different, other factors contribute to clinical outcomes, you cannot say for sure what will happen just because you have a certain gene, things can and do change rapidly) yadda yadda yadda <b>but</b>, having said all of that, I can tell you what I know has happened to my two kids and Marci, so you will have an idea of how things have shaped up so far. All three of these people with CF are pancreatic sufficient (something that is commonly associated with the R117H gene and helps to contribute to their overall health) They do not have any problems absorbing the nutrients from the food they eat. If they get a lung infection it is usually staph, which they clear with just oral antibiotics. None of them have had to go on IV antibiotics yet and none of them have much, if any, permanent lung damage. All three of them do similar preventative treatments which include:

1) Pulmozyme (inhaled drug that helps to thin mucus in the lungs)
2) Advair, Symbicort or Flovent (puffer drug for asthma symptoms to help keep swelling in the bronchial tubes down and help open up the smaller bronchial tubes as well)
3) Hypertonic Saline (inhaled to help bring more moister to the lining of the lungs to help move mucus out of the lungs)
4) The Vest (vibrates the lungs to help bring out the mucus and keep the lungs clear)

My daughter is 19 years old and is doing very very well. Her Pulmonary function tests are always well over 100% (116% most of the time) She hasn't had a lung infection in a couple of years. She has only had Pseudomonas aeruginosa once when she was 15 years old and so far it has never come back. She went to college for a couple of years, she is now working a full time job + a few extra hours at her part time job and living in her own apartment. We expect for her to have a long and healthy life, get married and have kids whenever she feels like it

Marci is 30 something years old, married and has two children under the age of 6. She has only had two bouts with Pseudomonas aeruginosa (each time when she got pregnant) She too has gone quite some time without a lung infection and has not seen another Pseudomonas aeruginosa infection in many years. She works part time by choice, and is a very active mom and wife.

My son is 21 years old and just started treatments last month. We had never seen any CF symptoms before now so there was nothing to do. He most likely has the lack of vas deferins (tubes that carry the sperm out) so having children 'the normal way' will probably not be an option for him but sperm retrieval for in vitro would be. He has very little interest at this point in finding out for sure so we don't know yet. Aside from the CF, his larger issues are with Autism Spectrum Developmental Delay. My guess would be this will be more likely to cause him to not go on to having a wife or children than the CF would. But who knows! The one sure thing is change....

Anyway... my point to all this rambling on and giving examples of all three of these peoples personal lives is to let you know that yes, people with CF, grow up, go to college, work, live, have families and can live long lives. I know of several people who are in their 50's 60's & even 70's now, so don't be so sure you will out live your daughter. You also have the benefit of finding out sooner rather than later and you can skip right over that period of not knowing how to treat problems because nobody knows she has CF. She will benefit from getting started on the necessary preventative treatments early. I know it sucks big time to be given a diagnosis of CF - it will get easier to cope with the mental games we all play in our heads, over time. Knowledge and understanding help... stick around this website, there is a lot of information and support here.

If you have any more questions, please feel free to ask either here or though the private message feature.