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Help to do with CF please?

11 replies

juniperdropofbrandy · 22/12/2004 16:59

My mate's little girl has had tests for over a year for CF. Now they want to retest her as the tests are inconclusive. She isn't 3 yet, could age be the problem with diagnosis? We're guttet

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juniperdropofbrandy · 22/12/2004 17:01

gutted*

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yoyo · 22/12/2004 17:06

What tests has she been having? We have a CF risk so my cord blood was tested with each birth - if it doesn't have the mutation of CF that I carry then the baby is ok. Only one was found to be a carrier and she had the sweat test at about 6 weeks. Result came back negative but I understand they can be a bit unreliable. Presumably the parents have been tested for mutations?

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juniperdropofbrandy · 22/12/2004 17:08

thanks yoyo. she's had the sweat test. She had one a GOSH and they say it's unreliable as it's older? and another newer test that was positive. I'm not sure if her parents have been tested or not?

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juniperdropofbrandy · 22/12/2004 17:09

it's in the mother's side of the family.

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yoyo · 22/12/2004 17:17

We saw a genetic counsellor who went through our family tree. We knew someone on DH's side had it (hence the test) but were surprised to discover that I was a carrier (so is my sister incidentally). Some of the mutations are very rare which may be the case here. Is she very poorly? The Cystic Fibrosis Trust are very helpful and I'm sure they'll have tremendous support from GOSH.

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juniperdropofbrandy · 22/12/2004 17:20

She's ill most of the time with chestiness bless her. They're retesting her in the New year so it's put a dampner on Christmas but they're going to enjoy it as best they can. They thought it was all behind them though.

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juniperdropofbrandy · 22/12/2004 17:21

is your dd ok then yoyo?

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yoyo · 22/12/2004 17:27

It might not be bad news in Jan. They will be keen to have a definite diagnosis so that they can start treatment asap. There have been huge advances in this area recently. Hope they manage to enjoy Christmas.

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juniperdropofbrandy · 22/12/2004 17:28

thanks again yoyo. I'm so pleased about the advances as it's an abysmal illness.

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yoyo · 22/12/2004 17:30

Sory, missed post. Yes my DD is fine - just a carrier like me. There were concerns as her weight gain was very slow and she always looked a bit unhealthy. As a result I looked in to it a lot and even now try to keep myself informed.

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juniperdropofbrandy · 22/12/2004 17:31

glad to hear she's ok yoyo.

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