CF

January 1, 2001

regarding the cf testing. macey has had 2 sweat tests, 2 buccal swabs and a

dna test. all negative. there is a cf mutation that is sweat negative.

starts with an R letter. can't remember it at the moment. there are over

700 cf mutations and Genzyme labs in Massachusetts tests for over 70 of

them. there is a hospital in Canada that tests for more and also tests for

the less seen rare mutations. there are pancreatic sufficient cf patients

who only have the lung involvement and then there are

pancreatic-insufficient patients who have the malabsorption/enzyme

deficiency who have never had a lung infection in their life. our

oldest had a sweat test ordered by the GI doc because she had the stools and

body build of the " typical " cf patient. she had never had a chest

infection. macey was the opposite, all chest, no stool problems.

I have belonged to a cf chat list since the day macey was first sweat tested

and you'd be amazed how many have had IVIG treatments and face similar

issues that our PID pumpkins face. many have been tested for immune

deficiency. we all believe that one day they may find a link between the

two. there are cf patients in their 60's. and there are patients who

weren't diagnosed until their 40's . there is an association for just

patients diagnosed late in life (after 30).

many pid pumpkins receive the cpt, enzymes, chest treatments, ivs and

medicines that cf patients do. many pid pumpkins are tested for immotile

cilia (which has similar treatments to cf).

just my .02

Ursula Holleman uahollem@...

and Macey's mom (5 yr. old with CVID, asthma, sinus disease, GERD,

kidney reflux, Sensory Integration Disorder, Diabetes Insipidus)

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