Just Beginning

[Theresa59]

Hi, I am Theresa and I just got the phone call that I am sure all of you have had.

We went in for my Granddaughter's 3 week well baby check and the doctor informed us that Felicity had tested positive in 2 heel stick tests. They set up a sweat test and mentioned the genetic test might be necessary as sometimes the sweat test is inconclusive. We asked to do both at the same time and since there is a family history on my ex's side cousins... they did this.

The sweat test came back negative on November 21st and we had an amazing Thanksgiving with this off our minds.

Today the doctor called my son in law and said the genetic test came back positive for CF. He is not the one that usually handles the medical stuff - but they told him that she tested 4 out of 26 on some sort of severity range.

We are all going to the pediatricians office tomorrow to get information - What should we ask? Right now they are telling him that she will probably be unaffected with her "type" of CF until she is 30+.

This is so much to handle right now. Her brother is 2 years old and after a birth screwup ended up with Cerebral Palsy. We have adjusted to being a family of a special needs child - but right now it is feeling like we have more than our share. I am looking for any place to start.

I belong to a grandparents group and have learned so much from those who have been there with CP - this was the first place I came looking!

Thanks,
T

 

[Theresa59]

Hi, I am Theresa and I just got the phone call that I am sure all of you have had.

We went in for my Granddaughter's 3 week well baby check and the doctor informed us that Felicity had tested positive in 2 heel stick tests. They set up a sweat test and mentioned the genetic test might be necessary as sometimes the sweat test is inconclusive. We asked to do both at the same time and since there is a family history on my ex's side cousins... they did this.

The sweat test came back negative on November 21st and we had an amazing Thanksgiving with this off our minds.

Today the doctor called my son in law and said the genetic test came back positive for CF. He is not the one that usually handles the medical stuff - but they told him that she tested 4 out of 26 on some sort of severity range.

We are all going to the pediatricians office tomorrow to get information - What should we ask? Right now they are telling him that she will probably be unaffected with her "type" of CF until she is 30+.

This is so much to handle right now. Her brother is 2 years old and after a birth screwup ended up with Cerebral Palsy. We have adjusted to being a family of a special needs child - but right now it is feeling like we have more than our share. I am looking for any place to start.

I belong to a grandparents group and have learned so much from those who have been there with CP - this was the first place I came looking!

Thanks,
T

 

[Theresa59]

Hi, I am Theresa and I just got the phone call that I am sure all of you have had.

We went in for my Granddaughter's 3 week well baby check and the doctor informed us that Felicity had tested positive in 2 heel stick tests. They set up a sweat test and mentioned the genetic test might be necessary as sometimes the sweat test is inconclusive. We asked to do both at the same time and since there is a family history on my ex's side cousins... they did this.

The sweat test came back negative on November 21st and we had an amazing Thanksgiving with this off our minds.

Today the doctor called my son in law and said the genetic test came back positive for CF. He is not the one that usually handles the medical stuff - but they told him that she tested 4 out of 26 on some sort of severity range.

We are all going to the pediatricians office tomorrow to get information - What should we ask? Right now they are telling him that she will probably be unaffected with her "type" of CF until she is 30+.

This is so much to handle right now. Her brother is 2 years old and after a birth screwup ended up with Cerebral Palsy. We have adjusted to being a family of a special needs child - but right now it is feeling like we have more than our share. I am looking for any place to start.

I belong to a grandparents group and have learned so much from those who have been there with CP - this was the first place I came looking!

Thanks,
T

 

[Theresa59]

Hi, I am Theresa and I just got the phone call that I am sure all of you have had.

We went in for my Granddaughter's 3 week well baby check and the doctor informed us that Felicity had tested positive in 2 heel stick tests. They set up a sweat test and mentioned the genetic test might be necessary as sometimes the sweat test is inconclusive. We asked to do both at the same time and since there is a family history on my ex's side cousins... they did this.

The sweat test came back negative on November 21st and we had an amazing Thanksgiving with this off our minds.

Today the doctor called my son in law and said the genetic test came back positive for CF. He is not the one that usually handles the medical stuff - but they told him that she tested 4 out of 26 on some sort of severity range.

We are all going to the pediatricians office tomorrow to get information - What should we ask? Right now they are telling him that she will probably be unaffected with her "type" of CF until she is 30+.

This is so much to handle right now. Her brother is 2 years old and after a birth screwup ended up with Cerebral Palsy. We have adjusted to being a family of a special needs child - but right now it is feeling like we have more than our share. I am looking for any place to start.

I belong to a grandparents group and have learned so much from those who have been there with CP - this was the first place I came looking!

Thanks,
T

 

[Theresa59]

Hi, I am Theresa and I just got the phone call that I am sure all of you have had.

We went in for my Granddaughter's 3 week well baby check and the doctor informed us that Felicity had tested positive in 2 heel stick tests. They set up a sweat test and mentioned the genetic test might be necessary as sometimes the sweat test is inconclusive. We asked to do both at the same time and since there is a family history on my ex's side cousins... they did this.

The sweat test came back negative on November 21st and we had an amazing Thanksgiving with this off our minds.

Today the doctor called my son in law and said the genetic test came back positive for CF. He is not the one that usually handles the medical stuff - but they told him that she tested 4 out of 26 on some sort of severity range.

We are all going to the pediatricians office tomorrow to get information - What should we ask? Right now they are telling him that she will probably be unaffected with her "type" of CF until she is 30+.

This is so much to handle right now. Her brother is 2 years old and after a birth screwup ended up with Cerebral Palsy. We have adjusted to being a family of a special needs child - but right now it is feeling like we have more than our share. I am looking for any place to start.

I belong to a grandparents group and have learned so much from those who have been there with CP - this was the first place I came looking!

Thanks,
T

 

[ktsmom]

Hi Theresa - there certainly is so much to know, especially if you are dealing with an "atypical" type of diagnosis. We will be able to answer your questions more completely if you let us know the specific mutations that your granddaughter has. Regardless, I'm very sorry for the news and I hope that you keep coming around to gain information and support. Many more will chime in soon so keep checking. Again, get a copy of the genetic test results to bring home.

You might also ask what specifically your daughter should look for in your granddaughter as signs of CF symptoms. Unfortunately, even knowing the genetics won't always dictate the progess of the disease. Better to catch things early. As an example, there might not be any signs of lung issues but digestive issues may show first (greasy stools, falling off or slowing on the growth chart, etc.)

Try to take it one minute at a time right now! For me, CF is getting more manageable every day. Very best wishes to you and your family!

 

[ktsmom]

Hi Theresa - there certainly is so much to know, especially if you are dealing with an "atypical" type of diagnosis. We will be able to answer your questions more completely if you let us know the specific mutations that your granddaughter has. Regardless, I'm very sorry for the news and I hope that you keep coming around to gain information and support. Many more will chime in soon so keep checking. Again, get a copy of the genetic test results to bring home.

You might also ask what specifically your daughter should look for in your granddaughter as signs of CF symptoms. Unfortunately, even knowing the genetics won't always dictate the progess of the disease. Better to catch things early. As an example, there might not be any signs of lung issues but digestive issues may show first (greasy stools, falling off or slowing on the growth chart, etc.)

Try to take it one minute at a time right now! For me, CF is getting more manageable every day. Very best wishes to you and your family!

 

[ktsmom]

Hi Theresa - there certainly is so much to know, especially if you are dealing with an "atypical" type of diagnosis. We will be able to answer your questions more completely if you let us know the specific mutations that your granddaughter has. Regardless, I'm very sorry for the news and I hope that you keep coming around to gain information and support. Many more will chime in soon so keep checking. Again, get a copy of the genetic test results to bring home.

You might also ask what specifically your daughter should look for in your granddaughter as signs of CF symptoms. Unfortunately, even knowing the genetics won't always dictate the progess of the disease. Better to catch things early. As an example, there might not be any signs of lung issues but digestive issues may show first (greasy stools, falling off or slowing on the growth chart, etc.)

Try to take it one minute at a time right now! For me, CF is getting more manageable every day. Very best wishes to you and your family!

 

[ktsmom]

Hi Theresa - there certainly is so much to know, especially if you are dealing with an "atypical" type of diagnosis. We will be able to answer your questions more completely if you let us know the specific mutations that your granddaughter has. Regardless, I'm very sorry for the news and I hope that you keep coming around to gain information and support. Many more will chime in soon so keep checking. Again, get a copy of the genetic test results to bring home.

You might also ask what specifically your daughter should look for in your granddaughter as signs of CF symptoms. Unfortunately, even knowing the genetics won't always dictate the progess of the disease. Better to catch things early. As an example, there might not be any signs of lung issues but digestive issues may show first (greasy stools, falling off or slowing on the growth chart, etc.)

Try to take it one minute at a time right now! For me, CF is getting more manageable every day. Very best wishes to you and your family!

 

[ktsmom]

Hi Theresa - there certainly is so much to know, especially if you are dealing with an "atypical" type of diagnosis. We will be able to answer your questions more completely if you let us know the specific mutations that your granddaughter has. Regardless, I'm very sorry for the news and I hope that you keep coming around to gain information and support. Many more will chime in soon so keep checking. Again, get a copy of the genetic test results to bring home.

You might also ask what specifically your daughter should look for in your granddaughter as signs of CF symptoms. Unfortunately, even knowing the genetics won't always dictate the progess of the disease. Better to catch things early. As an example, there might not be any signs of lung issues but digestive issues may show first (greasy stools, falling off or slowing on the growth chart, etc.)

Try to take it one minute at a time right now! For me, CF is getting more manageable every day. Very best wishes to you and your family!

 

[Alyssa]

I've never heard of a 4 out of 26 in severity range -- not sure what the doctor is quoting there. Perhaps you can clarify that at the appointment tomorrow. Are you seeing the same doctor that called your son in law?

Things to ask at the appointment:
1) What are her genes (there will be two)
2) What class are those gene types (if one of them is a class 4 or 5, that's generally a good thing to hear - see below)
3) Is her pancreas working correctly (will she need enzymes)
4) Will she be started on any preventative/maintenance therapies to insure her lungs remain clear and healthy
5) Is this a certified CF clinic (if not, will her care be transfered to a CFF center)

That would be nice if she didn't see any symptoms until age 30 or more, however I'd be a little leery of a statement like that -- the one thing everyone will tell you about CF is you just never know what will happen. Yes, there is evidence out there showing the mild gene mutations (class 4 and 5) are turning out to be more mild cases, later onset of symptoms, fewer "classice" symptoms etc -- so there are some a-typical cases out there and yes, some people are getting diagnosed later in life and or having symptoms show up at a later date -- I'm just not sure the doctor should be making promises about a particular age.

Having said all of that.... I'm here to tell you that my kids are two of the exceptions to the rules They are a-typical, mild variant people with CF. For the full story read the first entry of my blog, but the short story is, they are both very healthy, have very little symptoms, have never been on IV antibiotics or been hospitalized. They are also pancreatic sufficient so they have no digestive issues. They both have a vest and use it twice daily along with a few other treatments and preventative measures -- this has really contributed to keeping them healthy. Remaining healthy would not have happened without the preventative/maintenance therapies and taking them to clinic appointments and being followed by the CF professionals. No matter how good Felicity's health is, please always continue to have her followed at a CF clinic.

I'm really glad the doctor agreed to pursue genetic testing -- that is a very big plus - so many people go undiagnosed because of normal sweat test results.

I'm sorry to hear about the double whammy with special needs kids, that's tough -- especially CP.

Best wishes for tomorrow and please let us know what they say.

 

[Alyssa]

I've never heard of a 4 out of 26 in severity range -- not sure what the doctor is quoting there. Perhaps you can clarify that at the appointment tomorrow. Are you seeing the same doctor that called your son in law?

Things to ask at the appointment:
1) What are her genes (there will be two)
2) What class are those gene types (if one of them is a class 4 or 5, that's generally a good thing to hear - see below)
3) Is her pancreas working correctly (will she need enzymes)
4) Will she be started on any preventative/maintenance therapies to insure her lungs remain clear and healthy
5) Is this a certified CF clinic (if not, will her care be transfered to a CFF center)

That would be nice if she didn't see any symptoms until age 30 or more, however I'd be a little leery of a statement like that -- the one thing everyone will tell you about CF is you just never know what will happen. Yes, there is evidence out there showing the mild gene mutations (class 4 and 5) are turning out to be more mild cases, later onset of symptoms, fewer "classice" symptoms etc -- so there are some a-typical cases out there and yes, some people are getting diagnosed later in life and or having symptoms show up at a later date -- I'm just not sure the doctor should be making promises about a particular age.

Having said all of that.... I'm here to tell you that my kids are two of the exceptions to the rules They are a-typical, mild variant people with CF. For the full story read the first entry of my blog, but the short story is, they are both very healthy, have very little symptoms, have never been on IV antibiotics or been hospitalized. They are also pancreatic sufficient so they have no digestive issues. They both have a vest and use it twice daily along with a few other treatments and preventative measures -- this has really contributed to keeping them healthy. Remaining healthy would not have happened without the preventative/maintenance therapies and taking them to clinic appointments and being followed by the CF professionals. No matter how good Felicity's health is, please always continue to have her followed at a CF clinic.

I'm really glad the doctor agreed to pursue genetic testing -- that is a very big plus - so many people go undiagnosed because of normal sweat test results.

I'm sorry to hear about the double whammy with special needs kids, that's tough -- especially CP.

Best wishes for tomorrow and please let us know what they say.

 

[Alyssa]

I've never heard of a 4 out of 26 in severity range -- not sure what the doctor is quoting there. Perhaps you can clarify that at the appointment tomorrow. Are you seeing the same doctor that called your son in law?

Things to ask at the appointment:
1) What are her genes (there will be two)
2) What class are those gene types (if one of them is a class 4 or 5, that's generally a good thing to hear - see below)
3) Is her pancreas working correctly (will she need enzymes)
4) Will she be started on any preventative/maintenance therapies to insure her lungs remain clear and healthy
5) Is this a certified CF clinic (if not, will her care be transfered to a CFF center)

That would be nice if she didn't see any symptoms until age 30 or more, however I'd be a little leery of a statement like that -- the one thing everyone will tell you about CF is you just never know what will happen. Yes, there is evidence out there showing the mild gene mutations (class 4 and 5) are turning out to be more mild cases, later onset of symptoms, fewer "classice" symptoms etc -- so there are some a-typical cases out there and yes, some people are getting diagnosed later in life and or having symptoms show up at a later date -- I'm just not sure the doctor should be making promises about a particular age.

Having said all of that.... I'm here to tell you that my kids are two of the exceptions to the rules They are a-typical, mild variant people with CF. For the full story read the first entry of my blog, but the short story is, they are both very healthy, have very little symptoms, have never been on IV antibiotics or been hospitalized. They are also pancreatic sufficient so they have no digestive issues. They both have a vest and use it twice daily along with a few other treatments and preventative measures -- this has really contributed to keeping them healthy. Remaining healthy would not have happened without the preventative/maintenance therapies and taking them to clinic appointments and being followed by the CF professionals. No matter how good Felicity's health is, please always continue to have her followed at a CF clinic.

I'm really glad the doctor agreed to pursue genetic testing -- that is a very big plus - so many people go undiagnosed because of normal sweat test results.

I'm sorry to hear about the double whammy with special needs kids, that's tough -- especially CP.

Best wishes for tomorrow and please let us know what they say.

 

[Alyssa]

I've never heard of a 4 out of 26 in severity range -- not sure what the doctor is quoting there. Perhaps you can clarify that at the appointment tomorrow. Are you seeing the same doctor that called your son in law?

Things to ask at the appointment:
1) What are her genes (there will be two)
2) What class are those gene types (if one of them is a class 4 or 5, that's generally a good thing to hear - see below)
3) Is her pancreas working correctly (will she need enzymes)
4) Will she be started on any preventative/maintenance therapies to insure her lungs remain clear and healthy
5) Is this a certified CF clinic (if not, will her care be transfered to a CFF center)

That would be nice if she didn't see any symptoms until age 30 or more, however I'd be a little leery of a statement like that -- the one thing everyone will tell you about CF is you just never know what will happen. Yes, there is evidence out there showing the mild gene mutations (class 4 and 5) are turning out to be more mild cases, later onset of symptoms, fewer "classice" symptoms etc -- so there are some a-typical cases out there and yes, some people are getting diagnosed later in life and or having symptoms show up at a later date -- I'm just not sure the doctor should be making promises about a particular age.

Having said all of that.... I'm here to tell you that my kids are two of the exceptions to the rules They are a-typical, mild variant people with CF. For the full story read the first entry of my blog, but the short story is, they are both very healthy, have very little symptoms, have never been on IV antibiotics or been hospitalized. They are also pancreatic sufficient so they have no digestive issues. They both have a vest and use it twice daily along with a few other treatments and preventative measures -- this has really contributed to keeping them healthy. Remaining healthy would not have happened without the preventative/maintenance therapies and taking them to clinic appointments and being followed by the CF professionals. No matter how good Felicity's health is, please always continue to have her followed at a CF clinic.

I'm really glad the doctor agreed to pursue genetic testing -- that is a very big plus - so many people go undiagnosed because of normal sweat test results.

I'm sorry to hear about the double whammy with special needs kids, that's tough -- especially CP.

Best wishes for tomorrow and please let us know what they say.

 

[Alyssa]

I've never heard of a 4 out of 26 in severity range -- not sure what the doctor is quoting there. Perhaps you can clarify that at the appointment tomorrow. Are you seeing the same doctor that called your son in law?

Things to ask at the appointment:
1) What are her genes (there will be two)
2) What class are those gene types (if one of them is a class 4 or 5, that's generally a good thing to hear - see below)
3) Is her pancreas working correctly (will she need enzymes)
4) Will she be started on any preventative/maintenance therapies to insure her lungs remain clear and healthy
5) Is this a certified CF clinic (if not, will her care be transfered to a CFF center)

That would be nice if she didn't see any symptoms until age 30 or more, however I'd be a little leery of a statement like that -- the one thing everyone will tell you about CF is you just never know what will happen. Yes, there is evidence out there showing the mild gene mutations (class 4 and 5) are turning out to be more mild cases, later onset of symptoms, fewer "classice" symptoms etc -- so there are some a-typical cases out there and yes, some people are getting diagnosed later in life and or having symptoms show up at a later date -- I'm just not sure the doctor should be making promises about a particular age.

Having said all of that.... I'm here to tell you that my kids are two of the exceptions to the rules They are a-typical, mild variant people with CF. For the full story read the first entry of my blog, but the short story is, they are both very healthy, have very little symptoms, have never been on IV antibiotics or been hospitalized. They are also pancreatic sufficient so they have no digestive issues. They both have a vest and use it twice daily along with a few other treatments and preventative measures -- this has really contributed to keeping them healthy. Remaining healthy would not have happened without the preventative/maintenance therapies and taking them to clinic appointments and being followed by the CF professionals. No matter how good Felicity's health is, please always continue to have her followed at a CF clinic.

I'm really glad the doctor agreed to pursue genetic testing -- that is a very big plus - so many people go undiagnosed because of normal sweat test results.

I'm sorry to hear about the double whammy with special needs kids, that's tough -- especially CP.

Best wishes for tomorrow and please let us know what they say.

 

[JORDYSMOM]

Welcome Theresa. I'm glad you are so proactive. It sounds like Felicity has a great family behind her. I agree with what the previous posters said. My son is also a-typical, and he was not diagnosed until he was 15. You can also check out my blog.

Remember that CF is a progressive disease. I think preventative treatments are important. Since my son was dx and is receiving prev. treatment, he is healthier than he's ever been. We are starting to see more lung involvement, and he has started to have some trouble gaining weight though as he ages. Just don't let it sneak up on you. It's much easier to prevent damage than to correct it. I wish you and your family the best. Keep us posted on what you learn.

Stacey

 

[JORDYSMOM]

Welcome Theresa. I'm glad you are so proactive. It sounds like Felicity has a great family behind her. I agree with what the previous posters said. My son is also a-typical, and he was not diagnosed until he was 15. You can also check out my blog.

Remember that CF is a progressive disease. I think preventative treatments are important. Since my son was dx and is receiving prev. treatment, he is healthier than he's ever been. We are starting to see more lung involvement, and he has started to have some trouble gaining weight though as he ages. Just don't let it sneak up on you. It's much easier to prevent damage than to correct it. I wish you and your family the best. Keep us posted on what you learn.

Stacey

 

[JORDYSMOM]

Welcome Theresa. I'm glad you are so proactive. It sounds like Felicity has a great family behind her. I agree with what the previous posters said. My son is also a-typical, and he was not diagnosed until he was 15. You can also check out my blog.

Remember that CF is a progressive disease. I think preventative treatments are important. Since my son was dx and is receiving prev. treatment, he is healthier than he's ever been. We are starting to see more lung involvement, and he has started to have some trouble gaining weight though as he ages. Just don't let it sneak up on you. It's much easier to prevent damage than to correct it. I wish you and your family the best. Keep us posted on what you learn.

Stacey

 

[JORDYSMOM]

Welcome Theresa. I'm glad you are so proactive. It sounds like Felicity has a great family behind her. I agree with what the previous posters said. My son is also a-typical, and he was not diagnosed until he was 15. You can also check out my blog.

Remember that CF is a progressive disease. I think preventative treatments are important. Since my son was dx and is receiving prev. treatment, he is healthier than he's ever been. We are starting to see more lung involvement, and he has started to have some trouble gaining weight though as he ages. Just don't let it sneak up on you. It's much easier to prevent damage than to correct it. I wish you and your family the best. Keep us posted on what you learn.

Stacey

 

[JORDYSMOM]

Welcome Theresa. I'm glad you are so proactive. It sounds like Felicity has a great family behind her. I agree with what the previous posters said. My son is also a-typical, and he was not diagnosed until he was 15. You can also check out my blog.

Remember that CF is a progressive disease. I think preventative treatments are important. Since my son was dx and is receiving prev. treatment, he is healthier than he's ever been. We are starting to see more lung involvement, and he has started to have some trouble gaining weight though as he ages. Just don't let it sneak up on you. It's much easier to prevent damage than to correct it. I wish you and your family the best. Keep us posted on what you learn.

Stacey