Help in testing

[Kayla Rudder]

So my daughter is 3 almost 4 months. I did the testing and so did my oldest daughter, dont have or carry CF but my infant does carry with a low sweat test under 60 and has symptoms. I was told its possible for that to happen. Now! My daughters father will NOT get tested. His family refuses as well. I recently learned he has another daughter around 1 and I cannot find her (cue random lump sums of missing money from account). They said they need him or his brother or a child of his to get a full testing to narrow down what may affect her and what we can do now. I have more testing on the 14th so i dont know much. Can someone whos been through this give me any advice or tell me how i can get around them not being tested or what the next step is?

 

[Aboveallislove]

I'm confused. If they know she is a carrier and you don't have the gene she carries, then why would they need to test the father since they already know what gene she got from him...and I'm assuming they didn't test you for all genes and that is what they are doing now? It would make sense if she has one gene and symptoms that they run the full sequence on her...no need for father to be tested. I guess I'm missing something. Also did she have borderline results it "normal."

 

[JustaCFmom]

You situation sounds so challenging. If you get a full genetic testing done then that is enough to find if the child has 2 CF genes.

It doesn't sound worth fighting with people if you can get around it.

Good luck!

 

[Printer]

Love:

You are correct (as usual), they only need to do a FOLL CF SEQUENCING on the child.

Bill

 

[Kayla Rudder]

They did a test on her and they tested me at pregnancy i guess and i didnt have it. They just told me they needed him as well or one of them. Maybe for a total history but they tried to contact him and he never went down. On the test she was borderline yes. You see how you all have delta's and such. I never got that stuff but they did a sweat test on her. She still has to go to pulminary which I believe is where im going tomorrow. Im expecting what would be our third child aswell. Im very new to this and also very confused myself. I honestly didnt know anything about CF until recently.

 

[Kayla Rudder]

They gave has explained things to me i think i was having tunnel vision due to shock because i dont remember much. They gave me a website to help explain things and it listed different places that could help with funding for Insurance which im not at war with.

 

[Printer]

"I did the testing, so did my daughter".

There are almost 2000 known mutations, any two will cause CF.

Because of limitations created by insurance companies based up on the cost of CF tests, CF testing is done in many "degrees". The first test is usually only for the first 32 most common mutations. A second test could be for 200 most common mutations, etc, up to a FULL CYSTIC FIBROSIS SEQUENCING.

It is most likely, that "the testing" that was performed was either for 32 or 200 mutations. There are almost 2000 mutations, you do the math. I suspect, based upon your test, that you do not have any of the most common mutations. 32 down, almost 1968 to go.

 

[JustaCFmom]

Having reread the original post, my impression is that the "testing" was simply a sweat test. What you really need to insist on is GENETIC testing to look for CF Mutations. That is a simple blood test and Printer gave you a bit of an explanation.

I so understand feeling information overload at these doctor appointments. maybe it is worth while recording your next appointment?

Good luck & I hope you get the correct answers.

 

[Printer]

Kayla:

I have the impression that you are dealing with DD ped and a pulmo that he/she is sending you to see. You need to be seen at an APPROVED CYSTIC FIBROSIS CLINIC by a CYSTIC FIBROSIS SPECIALIST. If you tell us the name of the nearest nearby city, we will find a CF Clinic for you.

Bill