various re's and M's diagnosis story

[Guest guest]

Hi,

MICHELLE, I was pretty concerned about my own wrists when we learned chest

PT this past Friday and I realized what a beating my wrists are going to

take. I get " symptoms of over-use " (i.e., lots of pain in my hand/wrist)

from writing, backrubs, typing at the computer, although no one's called it

carppal tunnel or tendonitis yet. And yes, even with the clappers, the

wrists take a lot of the impact of the repetitive motion of chest PT. Good

luck at Levi's clinic visit!

PATRICIA, No, they didn't do a bronch to get M's culture-- this one was sort

of a mix between a gagging throat culture and a sputum culture-- I think the

pulm. started to go deep towards the throat with the swab when M. couldn't

cough at first, but then M. produced several strong coughs and brought up

some goo which our pulm. caught on the swab (hope no-one's eating at the

computer-- CF can be pretty gross). And thanks for the support-- I know,

the diagnosis is hard to take, and then the first " true " CF symptoms are

sort of like going through the diagnosis all over again. I'm fine today,

though. I shed my five minutes of tears yesterday and came back up ready to

fight this thing.

BRENDA, Yep, my hubby's doing better today, too :-) He finished building

the wood fence in our back yard (looks great!) and then took a LONG nap. So

far he hasn't growled at the kids, even though Kailin is being an

insufferable little beast today. And like you, I think it doesn't seem like

there can be a firm " rule " that CF bacteria doesn't cause fevers-- I mean,

obviously it's important for nurses/docs to realize that CFers don't REQUIRE

a fever to indicate a bacterial lung infection, but I don't see why these

infections would never cause fevers.... Who knows. Oh, and we don't know

what's in M's sinuses (other than CRAP, of course!). So far they've just

sort of thrown broad-range antibiotics at her sinuses-- my understanding is

that the sinuses are very hard to culture, and that it involves a long

needle or something???

BRIAN, Ugh-- sorry to hear that Jordan has sinus issues, too. I don't know

why our pulm. hasn't tried M. on a nasal inhaler yet. She considered it

again at our last visit, and decided not to. I didn't push for it, because

she already gets a lot of steroids via her pulmicort inhaler, and I know

that Kailin gets grumpier with high doses of nasal steroids in addition to

her asthma inhaler. My kids are insanely sensitive to steroids, in ANY

form. Meagan's always got a puffy face from her inhaled steroids, and of

course they limit her growth (height, not weight, they INCREASE her weight).

So we're not quite to the point of nasal steroids with M. yet, but soon....

We had a similar experience to yours with Kailin, though. We took her off

vancenase to see if she really needed this med which was contributing to her

grumpiness, and her nose goo turned GREEN within two days, and cleared up

when we re-started the vancenase.

Someone had asked for " diagnosis stories " the other day. Okay, here's a

WEIRD ONE for you. M. turned up deltaF508 in her newborn screen, and had a

normal sweat test at 3 weeks old (25). We did carrier testing this winter

to make sure Kailin didn't carry deltaF508 (screen was just in it's

developmental stages when she was born), and also tested me and ken to let

my brother know which side of the family it's on. I came home from the

movies one night and found a post-it on the counter which said, " Kailin's

gene is R117H. " I freaked (M's had enough of a respiratory history that

bells immediately went off in some region of my brain). We did a gene test

and waited a month. Yep-- Meagan had both genes, but our pulm (who didn't

want us to do ANY gene testing on M. in the first place because she was SURE

M. couldn't have CF with a negative sweat test) told us that now we needed

to check for variants because M. had R117H, a complex genotype, and that if

M. had the 7T variant she wouldn't have CF.

Re-did the sweat test-- still normal, but 3 points from boderline (37).

Waited 3 weeks for variant testing-- yep, she had 7T, so our pulm. assured

us again that folks with R117H-7T were a-symptomatic. Not convinced, I

scheduled a nasal potential difference test in Iowa. Meagan had a text-book

positive (CF-type) test, but the pulm. there assured us that she still

didn't have CF, because she had 7T. Our pulm. called a pulm. at s

Hopkins who works with R117H, and he assured her that a positive NPD means

M. definitely DOES have CF, at which point she was finally diagnosed. After

that we did a CT of her sinuses which turned up sinus disease, and yesterday

she cultured Staph Aureus (our pulm. had just been trying to convince us on

Friday that CF would NOT be a factor yet by the time we send M. off to

kindergarten next year, that we'd just be dealing with asthma).

When Jennie gets back from Canada, ask her to tell Mallory's diagnosis

story. Her pulm was even more wrong about everything than ours! And

Mallory was a lot sicker at the time of the dx than M., so it was a big

mess. Pulms. are only human (they just forget that sometimes!).

bye,

, mom of Meagan 4 (cf, asthma) & Kailin 6 (asthma)