Recent content by Jennifer11

  1. J

    Welcome Ambry Genetics

    My two year old daughter was diagnosed at birth with CF. She has the mutations Delta F508 and L997F. She has been non-symptomatic. We take her every three-four months for monitering and nothing has changed. Her sweat tests are normal and so are the throat cultures, her weight and height are...
  2. J

    mutations

    Hi Pinky, When your hubby or b/f gets tested make sure that he specifically says to be tested for all mutations that are possible to be tested for. I found out I was a carrier for the most common DeltaF508 during my pregnancy, and my b/f got tested and came back negative. After I had my...
  3. J

    Pics - Let's see 'em

    New here, and my daughter is 10 weeks old and the Dr.'s say she has 2 mutations,no symtoms as of yet, and her sweat test came back 18/20 (normal-low), and that for now, she is just a carrier until they do a DNA test. Which I know that if you carry 2 mutations you have CF unless you have a rare...
  4. J

    I'm at my wits end!

    Hi Nurse, My sister has 5 daughters ranging from 18 to 8 years old. None of them have CF, my sister and her middle daughter are carriers. Teenagers will be teenagers regardless. Her 18 year old just went and got a tattoo without her mother knowing and since they are like little sisters...
  5. J

    2 mutations, diagnosis:carrier

    my daughter was born 10 months ago. about a week after we got home from the hospital her doctor called and said we had to take her to Hershey to get a sweat test done because something in her bloodwork came back positive for CF. During my pregnancy I had found out I was a carrier, so my b/f...
  6. J

    mutations

    My daughter has L997F and D508. Here is a link for a list of mutations. http://www.hopkinsmedicine.org/cfgenotyping/dbGU.htm hope this will help you out
Top