Ambry Results are in

[traxster]

And they are negative. He has the 5t gene on one and 7t on the other, but no "known" CF gene. However, the doctor is not ready to close the door on his case. She says that given everything, including having cultured psuedomonas and achrombacter, that there is something. She said, and she parsed her words carefully, that at this point, the diagnostic information that they have to date, is not enough to justify a diagnosis, but she is going to share the results with someone else on his team.

In the mean time, I was there again today to give a sputum sample since he is, again, coughing up yellow stuff. The next step is seeing an immunologist.

I should be relieved. But I am not.

 

[traxster]

And they are negative. He has the 5t gene on one and 7t on the other, but no "known" CF gene. However, the doctor is not ready to close the door on his case. She says that given everything, including having cultured psuedomonas and achrombacter, that there is something. She said, and she parsed her words carefully, that at this point, the diagnostic information that they have to date, is not enough to justify a diagnosis, but she is going to share the results with someone else on his team.

In the mean time, I was there again today to give a sputum sample since he is, again, coughing up yellow stuff. The next step is seeing an immunologist.

I should be relieved. But I am not.

 

[traxster]

And they are negative. He has the 5t gene on one and 7t on the other, but no "known" CF gene. However, the doctor is not ready to close the door on his case. She says that given everything, including having cultured psuedomonas and achrombacter, that there is something. She said, and she parsed her words carefully, that at this point, the diagnostic information that they have to date, is not enough to justify a diagnosis, but she is going to share the results with someone else on his team.
<br />
<br />In the mean time, I was there again today to give a sputum sample since he is, again, coughing up yellow stuff. The next step is seeing an immunologist.
<br />
<br />I should be relieved. But I am not.

 

[Mommafirst]

Sounds very frustrating!! I can see why this would not be relieving, you are left not IN the CF category, but not OUT of it either. I'm sorry. Limbo is a horrible place to be, especially for a long time.

 

[Mommafirst]

Sounds very frustrating!! I can see why this would not be relieving, you are left not IN the CF category, but not OUT of it either. I'm sorry. Limbo is a horrible place to be, especially for a long time.

 

[Mommafirst]

Sounds very frustrating!! I can see why this would not be relieving, you are left not IN the CF category, but not OUT of it either. I'm sorry. Limbo is a horrible place to be, especially for a long time.

 

[traxster]

My fear is that I have no avenue to take all of the precautionary measures and get the support he would need. She said that when he gets older, there would probably be tests that could confirm things for good. Well, that's great, but does that mean we go through the next several years of him doing like he is now? He went from being okay...to being hospitalized and having a wet cough for months that even the strongest antibiotics can rid him of.

 

[traxster]

My fear is that I have no avenue to take all of the precautionary measures and get the support he would need. She said that when he gets older, there would probably be tests that could confirm things for good. Well, that's great, but does that mean we go through the next several years of him doing like he is now? He went from being okay...to being hospitalized and having a wet cough for months that even the strongest antibiotics can rid him of.

 

[traxster]

My fear is that I have no avenue to take all of the precautionary measures and get the support he would need. She said that when he gets older, there would probably be tests that could confirm things for good. Well, that's great, but does that mean we go through the next several years of him doing like he is now? He went from being okay...to being hospitalized and having a wet cough for months that even the strongest antibiotics can rid him of.

 

[JORDYSMOM]

I'm really sorry. I hope that they make a decison one way or the other soon.

I can't remember if your child is doing any sort of airway clearance. It sounds like he could benefit from cpt. I know you may not be able to get the vest without a dx, but I wonder if you could do manual cpt. It would help make his lungs less hospitable to those bugs that seem to have taken up residence.

(((hugs)))

Stacey

 

[JORDYSMOM]

I'm really sorry. I hope that they make a decison one way or the other soon.

I can't remember if your child is doing any sort of airway clearance. It sounds like he could benefit from cpt. I know you may not be able to get the vest without a dx, but I wonder if you could do manual cpt. It would help make his lungs less hospitable to those bugs that seem to have taken up residence.

(((hugs)))

Stacey

 

[JORDYSMOM]

I'm really sorry. I hope that they make a decison one way or the other soon.
<br />
<br />I can't remember if your child is doing any sort of airway clearance. It sounds like he could benefit from cpt. I know you may not be able to get the vest without a dx, but I wonder if you could do manual cpt. It would help make his lungs less hospitable to those bugs that seem to have taken up residence.
<br />
<br />(((hugs)))
<br />
<br />Stacey

 

[auntcob]

My son had a 5T and what genzyme called a "benign" mutation. CHOP said no CF; Children's National said "cf variant." He currently goes to children's every 6 months for a check-up. This is definitely a gray area and one that needs more research. We are in the process of getting my son into Johns Hopkins--they have a reputation for dealing well with some of the "atypical" or less understood mutations. They are involved in research in this area.

What I have read about the 5T is that is can be either asymptomatic, mild presentation, or classic presentation depending on what it is paired with. My son has primarily digestive issues--PI. One of the reasons we are going to Hopkins is that his current pulmo has him doing nothing for lung health even though his PFTs are in the low 80s. I definitely want a second opinion about that.

Sorry for your limbo. Adam's genetic results came back in FEb. and I still sorta feel like we are in limbo but he is much healthier since starting enzymes--the important thing.

And, he just got his report card (10th grade)===still rocking a 4.0 (a little mommy bragging)

 

[auntcob]

My son had a 5T and what genzyme called a "benign" mutation. CHOP said no CF; Children's National said "cf variant." He currently goes to children's every 6 months for a check-up. This is definitely a gray area and one that needs more research. We are in the process of getting my son into Johns Hopkins--they have a reputation for dealing well with some of the "atypical" or less understood mutations. They are involved in research in this area.

What I have read about the 5T is that is can be either asymptomatic, mild presentation, or classic presentation depending on what it is paired with. My son has primarily digestive issues--PI. One of the reasons we are going to Hopkins is that his current pulmo has him doing nothing for lung health even though his PFTs are in the low 80s. I definitely want a second opinion about that.

Sorry for your limbo. Adam's genetic results came back in FEb. and I still sorta feel like we are in limbo but he is much healthier since starting enzymes--the important thing.

And, he just got his report card (10th grade)===still rocking a 4.0 (a little mommy bragging)

 

[auntcob]

My son had a 5T and what genzyme called a "benign" mutation. CHOP said no CF; Children's National said "cf variant." He currently goes to children's every 6 months for a check-up. This is definitely a gray area and one that needs more research. We are in the process of getting my son into Johns Hopkins--they have a reputation for dealing well with some of the "atypical" or less understood mutations. They are involved in research in this area.
<br />
<br />What I have read about the 5T is that is can be either asymptomatic, mild presentation, or classic presentation depending on what it is paired with. My son has primarily digestive issues--PI. One of the reasons we are going to Hopkins is that his current pulmo has him doing nothing for lung health even though his PFTs are in the low 80s. I definitely want a second opinion about that.
<br />
<br />Sorry for your limbo. Adam's genetic results came back in FEb. and I still sorta feel like we are in limbo but he is much healthier since starting enzymes--the important thing.
<br />
<br />And, he just got his report card (10th grade)===still rocking a 4.0 (a little mommy bragging)
<br />
<br />

 

[martysmom]

I am so sorry you are going through this. If you are unsatisfied take him to another doctor. There are doctors out there that will treat you son regardless of what mutations are there. Before my son's genetic test came back revealing CF we found a fabulous doctor who began treating him right away. Before we were with another doctor who refused to accept the diagnosis. This was after all his test results revealed PI and CF lung cultures.

Auntcob, I find your story to be very frustrating. If your child is PI then his mutations are most definitley not benign!! You should get the treatments that every other CFer gets. Clinic every six months? I really hope you can get a dr. that will treat your son appropriately. You are a terrific mom and I know what it feels like to not get the care your son needs. I pray that you can get some answers soon!!

 

[martysmom]

I am so sorry you are going through this. If you are unsatisfied take him to another doctor. There are doctors out there that will treat you son regardless of what mutations are there. Before my son's genetic test came back revealing CF we found a fabulous doctor who began treating him right away. Before we were with another doctor who refused to accept the diagnosis. This was after all his test results revealed PI and CF lung cultures.

Auntcob, I find your story to be very frustrating. If your child is PI then his mutations are most definitley not benign!! You should get the treatments that every other CFer gets. Clinic every six months? I really hope you can get a dr. that will treat your son appropriately. You are a terrific mom and I know what it feels like to not get the care your son needs. I pray that you can get some answers soon!!

 

[martysmom]

I am so sorry you are going through this. If you are unsatisfied take him to another doctor. There are doctors out there that will treat you son regardless of what mutations are there. Before my son's genetic test came back revealing CF we found a fabulous doctor who began treating him right away. Before we were with another doctor who refused to accept the diagnosis. This was after all his test results revealed PI and CF lung cultures.
<br />
<br />Auntcob, I find your story to be very frustrating. If your child is PI then his mutations are most definitley not benign!! You should get the treatments that every other CFer gets. Clinic every six months? I really hope you can get a dr. that will treat your son appropriately. You are a terrific mom and I know what it feels like to not get the care your son needs. I pray that you can get some answers soon!!

 

[amyr]

I don't know where you are located but Hopkins, as mentioned, is great in dealing with the atypical presentations. This was my life until we finally got an atypical dx and my kids are now doing amazing. There is a huge grey area with this disease that we are just learning about..

 

[amyr]

I don't know where you are located but Hopkins, as mentioned, is great in dealing with the atypical presentations. This was my life until we finally got an atypical dx and my kids are now doing amazing. There is a huge grey area with this disease that we are just learning about..