genetic testing..negative?

[tjsheldon3]

My daughter's immunologist called today, she said the first part of the genetic testing is back and is negative for mutations. But there is still part of the rest in process. She was unsure of what that is. As much as I do not want my daughter to have cf, I'm so confused and feel we are back to the drawing board. She fits cf to a T! Should I ask them to run more extensive mutation? Her sweat test was border line. Thanks for any help!

 

[stephen]

My daughter's immunologist called today, she said the first part of the genetic testing is back and is negative for mutations. But there is still part of the rest in process. She was unsure of what that is. As much as I do not want my daughter to have cf, I'm so confused and feel we are back to the drawing board. She fits cf to a T! Should I ask them to run more extensive mutation? Her sweat test was border line. Thanks for any help!

tjsheldon3

If I went to a doctor who told me “there is still part of the rest (test ?) in process” and that “She was unsure of what that is”, I would surely go for an opinion from another doctor!

There are many CF patients whose sweat tests are borderline - or even negative, me included. That's why genetic testing is so important! There are around 2000 known mutations, and you need to be sure that the screening checks for all of them.

It's critical today that even those diagnosed with the sweat test have genetic testing to identify their mutations. With today’s drugs, a patient’s specific mutations can indicate the course treatment - like taking Kalydeco.

You should consider taking you daughter to a certified CF Center. Keep in mind that for many having CF today, it is not what it was in the past. A lot of new breakthrough drugs and treatments are in the pipe-line. Good luck.

 

[tjsheldon3]

tjsheldon3
If I went to a doctor who told me “there is still part of the rest (test ?) in process” and that “She was unsure of what that is”, I would surely go for an opinion from another doctor!

There are many CF patients whose sweat tests are borderline - or even negative, me included. That's why genetic testing is so important! There are around 2000 known mutations, and you need to be sure that the screening checks for all of them.

It's critical today that even those diagnosed with the sweat test have genetic testing to identify their mutations. With today’s drugs, a patient’s specific mutations can indicate the course treatment - like taking Kalydeco.

You should consider taking you daughter to a certified CF Center. Keep in mind that for many having CF today, it is not what it was in the past. A lot of new breakthrough drugs and treatments are in the pipe-line. Good luck.

nk you for responding. She does go to a certified cf centre (children's hospital of wi Milwaukee) we don't see pulmonary until July 16. Her immunologist is the one who ran testing, so I think they just really don't know like pulmonary would. I hate to wait until the 16 to get answers. I'm calling today to ask for the full panel, but I have a feeling they will wait until pulmonary appt

 

[Meabtahi]

They should be able to run the panel so you have results by your appt!