c.f. sequence results

[cherishthree]

Hello, My two children had a c.f. blood test with quest
diagnostics to rule out c.f.. Now I should be happy with the
results but instead am very confused. It is reported as negative
but it also says that patient is positive for two copies of
nucleotide 2694 t>g in exon 14a and two copies of 4521 g>a in
exon 24 and it says they are also postive for poly t

polymorphism in intron 8 is 5t/5t. Both of them have the same
results. hannah the 5 year old has tested postive with staph and
strep in her

sputum and is having surgery for polyop removal and severe sinus
disease she also is failure to thrive. Now Chris has sinus disease
as well but no

polyps and severe asthma no failure to thrive. It also said
5t/5t cause

boys to have (cbavd) does that mean he is infertile. Am I just
reading

this wrong? The c.f. nurse said that the doctor wants to see
them again

because they can not rule c.f. out. But they are not treating
them. Any time I call with Hannah's coughing and sinus problems
they tell me to call

my local ped. ? Go figure. We are going to chop in Philly to see
what they think at the end of the month. Please help me understand
these readings!! Thank, Kathy


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[anonymous]

There's a person on healthboards.com who posts about her child with polymorphisms that are similar to CF and she fortunately found a physician who treat her children as if they have CF. It's important because there are alot of similarities with lung problems and needing to keep those lungs healthy and getting stuff moved out, preventing infection.

A lady in our city passed away a couple years ago due to an undiagnosed lung condition. By the age of 5 she had clubbing, she had digestive and interstitial lung problems. Was on oxygen and awaiting a lung transplant. They never ever did figure out what was the cause of her lung problems and I can't help think that if they'd just treated it as if it was CF, she might have had a better prognosis.

Keep pushing and be your child's advocate.

 

[LisaV]

None of my husband's CF tests ever came back positive for CF either, but he had bronchiectasis almost from birth -- that became colonized with pseudo and then MRSA - and blockages of various kinds. And he has a brother with chronic pancreatitis from mucus plugs. (And there are the 2 neices with CF.)

Both of tmy husband and my brother-in-laws docs treat/treated them as though they had CF and such treatment was very effective.

Sometimes I think that there's a CF variant that they haven't identified yet that the brothers have.

Sometimes I think it's all secondary to the Marfan Syndrome that my husband had.

Sometimes I think that it's from being an alpha-one carrier (tho' they say carriers of that are asymptomatic).

Sometimes I think it's just some weird thing that runs in the family and hasn't got a name yet.

All of the time I think having a doctor that knows how to treat CF and staying educated ourselves has been crucial.