Anyone with DeltF508 and (TG) 12-5T?

[TCMarie]

My daughter was diagnosed with CF just a few weeks ago. I am trying to find as much information about her form of CF. Any information would be welcome. I am told that this is "mild" but varies. I guess I would like to know what she may be info, even thohg I know it's different for everyone.
So far, no problems, but she's only 3 mo old.

Thanks!

 

[TCMarie]

My daughter was diagnosed with CF just a few weeks ago. I am trying to find as much information about her form of CF. Any information would be welcome. I am told that this is "mild" but varies. I guess I would like to know what she may be info, even thohg I know it's different for everyone.
So far, no problems, but she's only 3 mo old.

Thanks!

 

[TCMarie]

My daughter was diagnosed with CF just a few weeks ago. I am trying to find as much information about her form of CF. Any information would be welcome. I am told that this is "mild" but varies. I guess I would like to know what she may be info, even thohg I know it's different for everyone.
<br />So far, no problems, but she's only 3 mo old.
<br />
<br />Thanks!

 

[Ratatosk]

I don't know anything about the 2nd mutation, you may want to post this question under the family section -- I believe there's a section in which you can ask Steve from Ambry (genetic testing) about specific mutations.

Mutations can be tricky -- members within a family, who have the same mutations, may have differing symptoms. Some people have more digestive issues, some sinus, some respiratory.

I assume you've been referred to a cf clinic..? Now that you know your child has cf, it's important to see a CF specialist, be proactive in terms of your child's care so she can lead a normal active life. DS is pancreatic insufficient and therefore needs enzymes to digest his food. We also do chest physiotherapy and nebulized medications to keep his lungs clear.

Years ago DS was diagnosed shortly after he was born with a bowel obstruction caused by meconium illeus -- no family history, no lung issues, I'd had a normal pregnancy. Was a complete shock. We were overwhelmed, went thru a whole range of emotions. We took (take) things day by day. Got into a routine in terms of care. Today DS is a normal, happy elementary school child who just happens to have CF.

Sure, we worry about the future, worry he may get ill, but it's also important to have a normal life, enjoy normal childhood milestones.

 

[Ratatosk]

I don't know anything about the 2nd mutation, you may want to post this question under the family section -- I believe there's a section in which you can ask Steve from Ambry (genetic testing) about specific mutations.

Mutations can be tricky -- members within a family, who have the same mutations, may have differing symptoms. Some people have more digestive issues, some sinus, some respiratory.

I assume you've been referred to a cf clinic..? Now that you know your child has cf, it's important to see a CF specialist, be proactive in terms of your child's care so she can lead a normal active life. DS is pancreatic insufficient and therefore needs enzymes to digest his food. We also do chest physiotherapy and nebulized medications to keep his lungs clear.

Years ago DS was diagnosed shortly after he was born with a bowel obstruction caused by meconium illeus -- no family history, no lung issues, I'd had a normal pregnancy. Was a complete shock. We were overwhelmed, went thru a whole range of emotions. We took (take) things day by day. Got into a routine in terms of care. Today DS is a normal, happy elementary school child who just happens to have CF.

Sure, we worry about the future, worry he may get ill, but it's also important to have a normal life, enjoy normal childhood milestones.

 

[Ratatosk]

I don't know anything about the 2nd mutation, you may want to post this question under the family section -- I believe there's a section in which you can ask Steve from Ambry (genetic testing) about specific mutations.
<br />
<br />Mutations can be tricky -- members within a family, who have the same mutations, may have differing symptoms. Some people have more digestive issues, some sinus, some respiratory.
<br />
<br />I assume you've been referred to a cf clinic..? Now that you know your child has cf, it's important to see a CF specialist, be proactive in terms of your child's care so she can lead a normal active life. DS is pancreatic insufficient and therefore needs enzymes to digest his food. We also do chest physiotherapy and nebulized medications to keep his lungs clear.
<br />
<br />Years ago DS was diagnosed shortly after he was born with a bowel obstruction caused by meconium illeus -- no family history, no lung issues, I'd had a normal pregnancy. Was a complete shock. We were overwhelmed, went thru a whole range of emotions. We took (take) things day by day. Got into a routine in terms of care. Today DS is a normal, happy elementary school child who just happens to have CF.
<br />
<br />Sure, we worry about the future, worry he may get ill, but it's also important to have a normal life, enjoy normal childhood milestones.

 

[TCMarie]

I am going to a clinic.

She is asymptomatic for the time being. I have been trying albuterol as a preventative, but it makes her hyper. If she could walk yet, she'd probably running circles around the house for hours!

I have been told at the clinic that they only want to see her every other month for a year, then twice a year for a couple of years. After that only once a year if there are still no problems. I pray that is the case and the fact they don't want to see her as often as a classic CF patient gives me hope.

She also had a cold/sinus infection that she caught from me before we knew of the CF. She got over faster than I did. I am being possitive but only time will tell.

I just wanted to find others with her combo as a way to better educate myself as to what may come. At the clinic they kinda clump every one together and follow the same action plan.

 

[TCMarie]

I am going to a clinic.

She is asymptomatic for the time being. I have been trying albuterol as a preventative, but it makes her hyper. If she could walk yet, she'd probably running circles around the house for hours!

I have been told at the clinic that they only want to see her every other month for a year, then twice a year for a couple of years. After that only once a year if there are still no problems. I pray that is the case and the fact they don't want to see her as often as a classic CF patient gives me hope.

She also had a cold/sinus infection that she caught from me before we knew of the CF. She got over faster than I did. I am being possitive but only time will tell.

I just wanted to find others with her combo as a way to better educate myself as to what may come. At the clinic they kinda clump every one together and follow the same action plan.

 

[TCMarie]

I am going to a clinic.
<br />
<br />She is asymptomatic for the time being. I have been trying albuterol as a preventative, but it makes her hyper. If she could walk yet, she'd probably running circles around the house for hours!
<br />
<br />I have been told at the clinic that they only want to see her every other month for a year, then twice a year for a couple of years. After that only once a year if there are still no problems. I pray that is the case and the fact they don't want to see her as often as a classic CF patient gives me hope.
<br />
<br />She also had a cold/sinus infection that she caught from me before we knew of the CF. She got over faster than I did. I am being possitive but only time will tell.
<br />
<br />I just wanted to find others with her combo as a way to better educate myself as to what may come. At the clinic they kinda clump every one together and follow the same action plan.

 

[bhm]

TC,

thanks for your posts. i'm afraid i'm going to be in a similar situation. i've tested positive for deltaf508 and my wife just last week tested postitive for 5t12t. We have an infant and my wife is pregnant.

our 11 month old is so far very heatlhy and has shown negative on the newborn screen and the sweat chloride tests. But, we are worried.

We are waiting for a genetics panel on her to come back and are very nervous.

Can you let us know what you find out. We've heard about the clinical study of 87 patients with this cross but want to get as much information as possible.

 

[bhm]

TC,

thanks for your posts. i'm afraid i'm going to be in a similar situation. i've tested positive for deltaf508 and my wife just last week tested postitive for 5t12t. We have an infant and my wife is pregnant.

our 11 month old is so far very heatlhy and has shown negative on the newborn screen and the sweat chloride tests. But, we are worried.

We are waiting for a genetics panel on her to come back and are very nervous.

Can you let us know what you find out. We've heard about the clinical study of 87 patients with this cross but want to get as much information as possible.

 

[bhm]

TC,
<br />
<br />thanks for your posts. i'm afraid i'm going to be in a similar situation. i've tested positive for deltaf508 and my wife just last week tested postitive for 5t12t. We have an infant and my wife is pregnant.
<br />
<br />our 11 month old is so far very heatlhy and has shown negative on the newborn screen and the sweat chloride tests. But, we are worried.
<br />
<br />We are waiting for a genetics panel on her to come back and are very nervous.
<br />
<br />Can you let us know what you find out. We've heard about the clinical study of 87 patients with this cross but want to get as much information as possible.

 

[AleksandraKaczynska]

Going through diagnosis is a alot of emotions and stress. Take ist step by step.
bhm - since your one year old has had no elevated level of irt on the newborn screen and a good chloride test - it's very unlikely she has cf - rather she is a carrier.
Her genetic test will be for the muattaions you carry so it will propobly come back with unsewere sooner.
You can try to get a prenental test on the baby but remember the test is not 100% sure and may cause some problems with the preganacy. Also I would ask myself a question - would a possitive test change anything.
We chose not to test Zuzanna while unborn - coause it would not change anything for us - but could make me stay in hospital for the preganacy [eriod - something I wanted to avoid. So we waited for test after being borne. I called the clinic and had the results back very fats. First no high irt level - then a genetic test showing she has only one mutation - which means she is a healthy carrier - then they did a sweat test which showed also no cf. It all took about 1,5 months. - But the first result was clear from the irt - n cf.
Wish you all the luck we had with Zuzanna.

 

[AleksandraKaczynska]

Going through diagnosis is a alot of emotions and stress. Take ist step by step.
bhm - since your one year old has had no elevated level of irt on the newborn screen and a good chloride test - it's very unlikely she has cf - rather she is a carrier.
Her genetic test will be for the muattaions you carry so it will propobly come back with unsewere sooner.
You can try to get a prenental test on the baby but remember the test is not 100% sure and may cause some problems with the preganacy. Also I would ask myself a question - would a possitive test change anything.
We chose not to test Zuzanna while unborn - coause it would not change anything for us - but could make me stay in hospital for the preganacy [eriod - something I wanted to avoid. So we waited for test after being borne. I called the clinic and had the results back very fats. First no high irt level - then a genetic test showing she has only one mutation - which means she is a healthy carrier - then they did a sweat test which showed also no cf. It all took about 1,5 months. - But the first result was clear from the irt - n cf.
Wish you all the luck we had with Zuzanna.

 

[AleksandraKaczynska]

Going through diagnosis is a alot of emotions and stress. Take ist step by step.
<br />bhm - since your one year old has had no elevated level of irt on the newborn screen and a good chloride test - it's very unlikely she has cf - rather she is a carrier.
<br />Her genetic test will be for the muattaions you carry so it will propobly come back with unsewere sooner.
<br />You can try to get a prenental test on the baby but remember the test is not 100% sure and may cause some problems with the preganacy. Also I would ask myself a question - would a possitive test change anything.
<br />We chose not to test Zuzanna while unborn - coause it would not change anything for us - but could make me stay in hospital for the preganacy [eriod - something I wanted to avoid. So we waited for test after being borne. I called the clinic and had the results back very fats. First no high irt level - then a genetic test showing she has only one mutation - which means she is a healthy carrier - then they did a sweat test which showed also no cf. It all took about 1,5 months. - But the first result was clear from the irt - n cf.
<br />Wish you all the luck we had with Zuzanna.

 

[AleksandraKaczynska]

TCMarie
We where told that Joanna may have a mild case - and she has - but it took about two years for the doctors to admit it - from looking at her health and how she's developing. We still have no symptoms. Do CPT and hypertonic saline inhaltions, take AquADEK vitamins and take special care of her - no kindergaden and washing hands so far, vaccinations... On our last visit to cf clinic I was told to come back in over half a year since she is doing so great - at first they wanted to see her at least once every 3 months. But it takes time to say whether the cf is mild or not.
A cold is not so big a problem if it doesn't go further in and she got over it cause you're propobly breast feeding.
Just make sure to tell the doctors about everything =- a good idea is to take notes.
good luck

 

[AleksandraKaczynska]

TCMarie
We where told that Joanna may have a mild case - and she has - but it took about two years for the doctors to admit it - from looking at her health and how she's developing. We still have no symptoms. Do CPT and hypertonic saline inhaltions, take AquADEK vitamins and take special care of her - no kindergaden and washing hands so far, vaccinations... On our last visit to cf clinic I was told to come back in over half a year since she is doing so great - at first they wanted to see her at least once every 3 months. But it takes time to say whether the cf is mild or not.
A cold is not so big a problem if it doesn't go further in and she got over it cause you're propobly breast feeding.
Just make sure to tell the doctors about everything =- a good idea is to take notes.
good luck

 

[AleksandraKaczynska]

TCMarie
<br />We where told that Joanna may have a mild case - and she has - but it took about two years for the doctors to admit it - from looking at her health and how she's developing. We still have no symptoms. Do CPT and hypertonic saline inhaltions, take AquADEK vitamins and take special care of her - no kindergaden and washing hands so far, vaccinations... On our last visit to cf clinic I was told to come back in over half a year since she is doing so great - at first they wanted to see her at least once every 3 months. But it takes time to say whether the cf is mild or not.
<br />A cold is not so big a problem if it doesn't go further in and she got over it cause you're propobly breast feeding.
<br />Just make sure to tell the doctors about everything =- a good idea is to take notes.
<br />good luck

 

[TCMarie]

No Kindergarten? Huh?

Anyway, she got over RSV fast, just like the rest of us that were sick.

She gets albuterol when needed. Other than that, she treated like a normal baby. She got sick because it was going around day care.
She's 4 mo old this week and has doubled in size. No coughing, weezing, greasy stools. If it weren't for the NBS, we never would have guessed CF.

 

[TCMarie]

No Kindergarten? Huh?

Anyway, she got over RSV fast, just like the rest of us that were sick.

She gets albuterol when needed. Other than that, she treated like a normal baby. She got sick because it was going around day care.
She's 4 mo old this week and has doubled in size. No coughing, weezing, greasy stools. If it weren't for the NBS, we never would have guessed CF.