Story about Chronic Granulomatous Disease .

My Girls

Dec 13, 2017

By: Klsmith

Year Condition Began: 2015


In March of 2015, one of my twin daughters(2.5yrs old) was in hospital with bacterial pneumonia for the second time. It wasnt improving every time they took her off IV antibiotics so they started doing tests. One of the tests was for CGD. The doctor didnt expect it to come back abnormal so when it did it was immediately repeated in hopes it was just caused by delayed processing. Unfortunately the repeat result was the same and the whole new journey began for her.
Only 6 weeks prior to the diagnosis i had DNA results come back to say my girls who i always thought were fraternal turned out to be identical. Because of these test results my other daughter was tested even though she had never been hospitalised with any pneumonias. Her first and repeat results come back abnormal and thus began her new journey.
21 months down the track we found out they have th NCF1 mutation and 6months later found out we (hubby and myself) are carriers of this mutation.
Now close to 3yrs since diagnosis, I have two little girls happy and healthy who start school next year.

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