Part 3

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  • Hello Mrs. Taylor! This is just a routine checkup for cystic fibrosis done for all newborns.
  • Cystic fibrosis is a respiratory disorder that causes a thick build up of mucus inside of the lungs. It is a very horrible disease that requires daily treatment. It is important to test for it at a young age so we can provide treatment early on.
  • I'm going to run the first test now which is a blood test that looks at the levels of IRT which is a chemical that is released in the pancreas. People that have cystic fibrosis tend to have high levels of this chemical which is what we are looking for.
  • Okay.
  • AFTER THE BLOOD TEST
  • Hadley's blood has high levels of the chemical immunoreactive trypsinogen, or IRT. We'll do a genetic test to confirm the results of this test.
  • Okay.
  • AFTER THE GENETIC TEST
  • The results of the genetic test just came in. It seems that your daughter has a mutation on both copies of the CFTR gene. This mutation alters a protein that controls the movement of salt in and out of cells.
  • OH MY GOSH! NO!
  • I'm sorry to say but this confirms that Hadley has cystic fibrosis.
  • In order for Hadley to continue living she is going to need daily treatment. There are many different treatment options that I'll go over with you and you will need to decide which one you would like to use.
  • I'm afraid there is no cure and patients with cystic fibrosis tend to not live past the age of 40.
  • NOOOO!!!!!
  • *sniff* Okay. *sniff*
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