Oh, Shelly, I'm so sorry things are so bad. Look I know you've already asked the doctors but I sure wish they would start ruling out some of the rare disease's that this could be. Obviously I don't know everything but I know what Karly's doctors felt was important to rule out.

Ciliary Diskinisea (not sure if this is spelled exactly right but it's close) I'll do a spell check on it in a little bit. It's rare but it's possible!!!

Cystic Fibrosis (sweat test AND GENETIC Test) - I think you said they have done the sweat and the results were normal but you need that Genetic Test done.

I can't believe these doctors aren't testing for any of these things. You know it might turn out like Karly and the results be negative on CF and Diskinisea but good Lord, you need to know for sure. You need to know exactly what your dealing with.

I'll check back if I can tonight. Karly had a rough night last night and she's been coughing alot and has a very runny nose so I took her to the doctor this afternoon. Surprise, Surprise.... She has an ear infection in both ears. Of course I'm not surprised since they wouldn't put tubes back in her ears. Dumb move I thought but they assured me if she kept having trouble they would put them back in. This makes twice in less than two months. They put her on Ceftin and started her on Orapred today. I'll see how this goes then I'll decide whether to insist on tubes now or give it one more try without tubes.

Good Luck

Kim

I agree that the tonsils should probably come out, it certainly isn't going to hurt her to have them removed, but why in the world won't they culture that mucous to see what antibiotic will kill that infection?!? Melanie has had an infection for so long it could well be penicillian resistant, the only way to know is to culture it. They cultured the mucous in K's sinuses and found her infection was resistant to penicillian, because she had been on so many antibiotics. Her body had built a resistance to penicillian so Omnicef, Augmentin, Vantin, Ceftin did nothing for her. It took Cipro to kill that infection and she stayed clear until her tubes came out of her ears about 3 months later.

Karly was bad, alot like Melanie is now, so I can definately understand the fatique issue and frustration that Shelley is going through. But I have to say it almost looks like the doctors are ignoring the major tests and I don't understand why. You have to know exactly what your dealing with in order to control it and treat it. And it might be a multiple issue problem. That even makes it harder.

In regards to the genetic testing, I know our specialists it is pretty expensive when it is done right. Maybe that's why they aren't doing it. Ambry Genetics (where K's lab work was sent) tests for over 700 strands of CF and also tests for known polymorphisms. She said smaller labs only test for about 90 strands of CF (the most common forms found) and not polymorphisms. But in Karly's case where we were having a horrible time controlling her asthma and infections that she wouldn't settle for anything but Ambry. It was a real possibility that she had an atypical for of CF because of the symptoms she was having. Turns out she didn't have CF at all but at least I can go to sleep at night knowing that she was tested for 700 different strands not just the most common 90 strands.

Now at some point in the future doctors might change their point of view and say that the M470V polymorphism which K has two of is an atypical form of CF, however our specialist didn't think that would be the case. But if it was the case then we would be notified by her and or the lab with the change of diagnosis.


Kim

I hope that we are all able to learn from this thread. I think it's pretty cool that we can be all over the country and still sharing infomation and knowledge. Hey I've learned a few things here too. I'm always open for new ideas.

Karly has been having lots of trouble again with her sinuses ever since that ear infection she got about 2 1/2 weeks ago. I took her to the doctor because she was having that mild asthma attack. She went through a course of Ceftin but two days after she finished the congestion started back up, (much milder symptoms now than a year ago, a year ago Karly was more like Melanie) Anyway I couldn't get the doctors to put another set of tubes in Karly's ears, they say next time they'll see about it. (SCREAM!!!!!!!!!!!!)

Things were much better when we had our CF/Pulmonary Specialist on board but after she moved to Nebraska in April we have been without one. She told the ENT to put tubes in immediately but the ENT didn't listen, in fact she did the exact opposite. She released Karly and said, if she had 3 - 5 more infections in a year that she would reconsider tubes.

Any way I have made a decision today. I have called a well respected hospital in Fort Worth, Texas that specializes in Pediatric Pulmonary and I'm waiting on a call back to set up an appointment with them. No insult to my ENT who is very nice but she's not an Asthma/Pulmonary Specialist and she doesn't understand that Karly NEEDS tubes in order to let the excess mucous flow.

If I don't do something, Karly is going to start getting alot worse. Just thought I'd share what's going on with us.

Shelly, good luck at the doctor's and hang in there. We are living proof that it will get better.

Kim