Did I forget to mention?

I have written a fair bit about my youngest son who has CF. If you have looked at my profile, or my initial post, you will know that I have a total of four children. Each have some sort of special need. I will write more specifically about each of them later. I just want to finish the cystic fibrosis back-story of our family.

I have only just  remembered that I havent written anything about our four-year old daughter’s experience with CF.

When our youngest was diagnosis with the condition, the doctors decided to do sweat tests on our children. We decided to take one extra child with us at a time (I don’t know about you, but I seriously don’t fancy having to try to entertain four young children for an entire afternoon in a hospital!)

Our eldest son had his sweat test done January of 2010 so that it wouldn’t effect his schooling. His test came back fine.

Our daughter had hers done three months later, during the next clinic visit. A few days after returning home, we received a phone call from the clinic nurses saying that her salt levels are in that “iffy” category. Not low enough to conclusively say negative to cystic fibrosis, but not high enough to say positive either….but pretty darn close!

So the next time we went to Perth for clinic, yet another sweat test was done, which came back exactly the same, too high to say “No, all good” , but not high enough to say “Yup, she’s got it”.  She had blood work taken, which showed she is definitely  a carrier of the Delta F508 gene.

Some of you just read that and just went “Say WHAAAT??” didn’t you? Dont worry, I did the exact same thing. I have only just started remembered what it was called a few months ago. None of it made any sense to me when the young one was diagnosed, so I called them all R2D2 and C3PO! It is the most common CF gene type apparently. I have been told there are close to 1500 CF gene types…or something like that.

OK, so we now know that our daughter is a gene carrier, something she needs to be aware of when she has children later (MUCH later!!!) down the track.

A giant question mark has been placed over our daughter’s head. She has always had lingering coughs after illness, usually for a couple of weeks longer than everyone else. Just this year alone, she has had three nasty cases of croup.

It has been decided that when she starts coughing like this, she is to be treated as having CF, so she has antibiotics, and physio can’t hurt. In between times, she is a normal kid.

She has had chest x-rays, which have come back as pictures of a beautiful set of lungs.

The next time we go to Perth for clinic, she is getting admitted overnight for a sleep study. She is an extremely heavy breather…and the snoring is SHOCKING!! I don’t know if its going to help with her CF diagnosis or not, but it may help with her Global Development Delay diagnosis…but that’s another story.

It has been about nine months since her first sweat test. The doctors are pretty sure she doesn’t have CF, but they said they have been wrong before, and it is too close to rule anything out. They don’t want to over-treat her, in case she doesn’t have it,  and they don’t want to under-treat her in case she does have it.

So, for now, we sit back, wait, and hopefully…eventually…we can find out for sure whether or not our daughter has CF too.


4 thoughts on “Did I forget to mention?

    • I keep meaning to do a follow up post about her sleep study. But she is doing well so far (in term of her health)
      It frustrating everyone (including medical staff) not knowing what to call her

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