My son has had 2 borderline sweat tests and his genetic test that tested for more than 100 mutations was negative. However, from what I've read, a nasal test or something else should be done because he's had symptoms from birth and genetic testing doesn't and can't include all genetic mutations. Please let me know. Thanks susan

HI Susan, Well I'd say that things seem to be looking up with the genetic tests coming back negative but you are still concerned about what's going on. I haven't heard about that form of test you mentioned for CF. It's been a while since my girls were diagnosed and I was under the impression that the only real "official" test was a sweat chloride. Obviously they have made improvements with the discovery of so many mutations though. My daughter's not feeling so well and we are trying to keep her from having to be admitted again and we have an appt. again today. I will try to remember and just ask while we are there if there are any other tests for CF. I'll try to post again later tonight or in the AM.
Chacha

It's me again Susan, Not a good appt. for us. Looks like we'll be doing home IV again. But after everything was arranged I did get a chance to ask about that nasal thing you mentioned. She said it is a research that is on going. She described it and it sounds unpleasant and icky. Something about sticking electrodes up the nose, sending a solution through so that it runs out, and measuring the sodium content (or soemthing like that) in the mucas. First thing my daughter said is "ew, I'm glad I'm already diagnosed I wouldn't want to go through that." I mentioned briefly your concern. Adopted child, cough, chronic resp. inf., gastrointestinal problems, sweat test, genetic test. She said they do a number of different things at our clinic, among them taking a look at x-rays, lung functions, stomach issues... She recommended if you weren't already being seen at a CF center to try and get seen at one. They know better what to look for when dealing with a number of issues like your son. So I hope that is of some help.
Chacha

Hi Chacha,
Thanks for getting back to me so quickly and also thanks for speaking to your doctor on my behalf.Perhaps the nasal test isn't the right one, but I know he should have one more to make things conclusive because there's overn 600 mutations.
I'm sorry to hear about your daughter with the iv therapy. How old is she? And is this for a lung infection and what antibiotic? I hope she gets better soon. It must be very difficult for you with 2 children with cf-my heart goes out to you.

Do you like to read, go to movies etc? anything to distract you from everything. We also see jeffrey's new doctor next Thursday. At your cf center are there gi and pulmonary doctors together? because where we are i believe the two departments are kept separate.
Bye for now. And I wish you good luck and hope to hear from you soon.
Susan

Hi Susan, My daughter's 15. The picc line didn't work out today. Her veins are pretty much used up and now she's going to have to have a port put in. She hasn't been too keen on the whole idea of that but we have no other choice now. So she's back home until next week when they have an opening. Rough day today. I'm not sure what antibiotics they'll have her on this time. She's allergic to Fortaz so she won't have that. They tried her at home with Cipro and Colistin first but after a week she didn't make any improvement. She's just been up and down this whole last year. Our other daughter has only had one hospitalization, she's 12. We hope that her activity will help her to stay the way she is going. She's a trooper though, she deals well with all the attention the older one gets. It's hard, especially days like today. Luckily my husband was able to get away from work really quickly today so that we could face this whole port thing together.
I don't do anything on my own these days. We've only been here for a short while and I don't know anyone except a couple of wives from my husbands work, and one of them is not just a wife, she works there too. I don't work for fear of days like yesterday. Not feeling good, having to go in or having to go pick her up from school, hospitalizations. I don't know how anyone else does it. Sometimes I'm even afraid to schedule myself an appt. for fear it will have to cancelled. But that's just me, I should probably try to get over it. So I clean house and check e-mail and check up on my friend stationed in Germany who's expecting her first child away from family. I do like going to movies but that's what the girls and I do together usually. Anyway...
Our CF center has both clinics together in the same area. Our last one in Dayton, Ohio did too. In fact even the CF center my girls went to in the Netherlands had the pulmo. and gastro. together. There you actually saw gastro. at least once a year at your annual appt. They did a yearly thing where they did the lung function in that box, blood work, x-rays etc. It seems that it only makes sense for a CF center to have both clinics in the same area. So which new doctor will you be seeing next thursday? The new gi doc? I surely hope he's got some news for you on what's going on with your son. I know it must be agrivating not knowing what's wrong.
Well better close now, it's time to pick up my youngest from RE. Thanks for typing back.

Hi Chacha,
How are you? How is your daughter doing is she doing any better? I hope so. I'm so upset and I don't know what to do. From everything I know and have read, a genetic test of negative can't rule out cf definitively because it can't test for all 6oo mutations. Therefore, since my son's test only tested for 100 how can you say especially since he's still having syptoms that he doesn't have this horrible disease? You can't. But his new doctor just brushes off and delegates responsibility to his pediatrician.
He did agree that such genetic tests as previously mentioned, aren't 100% conclusive. However,when I suggested a pulmonologist at the cf center, he tried to discourage me saying my son didn't have any more symptoms. There is nothing more truthful than I hope my son is okay and he's right. But 2 borderline sweat tests, one genetic test that's negative, can't rule it out especially because he has symptoms that don't get better. His new doctor said it would be okay to see a pulm. but he doesn't give referrals. He's very friendly with one of the doctors who is but I'm a little suspicious of going to her if he's so friendly with her. I just want to know conclusively he doesn't have this disease, not even an obscure mutation they can't find. I feel like everyone is protecting his first doctor. Also the only reason he doesn't think my son has it: because he looks too good-another reason doctors misdiagnose this disease. I'm thinking about switching hospitals. The ADEKS has helped his blood work-one very positive thing. Let me know what you think and I sincerely hope your daughter is better!
susan

Hi Susan, My daughter is doing OK. She had to get a port put in because they could not get a picc line in either arm. So starting on IV antibiotics was delayed by a week. So last week was a nightmare. She's really sore even though it's been since Wednesday. She's unhappy with the location, she thought it would be lower. But they said if it was any lower it would be in breast tissue and as she grew she would have to have it moved. We keep telling her she has to give it some time to heal. So whether she goes to school tomorrow or not I don't know. She is so self conscious about how she looks.
I wish I knew what to tell you about your son and his new doctor. Now was this that new gi doc? Will your pediatrician (i'm guessing is not this same doc. that won't give you a referral) not give you a referral? I'd think that is who you need to get a referral from. Again, I'm unfamiliar with civilian insurance so I don't know. Our referrals have to come from the primary care provider, in our case a pediatrician, but we've also had a family practice doc as our primary provider. As far as "he looks too good to have CF". We've heard that before. In fact up until about 4 years ago, they said that about both our girls. "if I didn't know they had CF I'd never have guessed". The doctor they saw in the Netherlands, said of our youngest that if it wasn't on paper, he'd look at her and think she was a normal child, even with her lung functions. So that is not something they can base a diagnosis on. My question is, why doesn't that doctor give referrals? So how has your son been lately? Well or sick? So your son started on ADEKs? Vitamin levels were down? How're his BM's? If you were seeing a GI doc, has he made any improvements there? I just want to be sure which doctor is which. When you say new doctor, GI? If he hasn't been sick lately, and seems to be doing better, then maybe waiting and seeing how he's doing for a little bit would be OK. Then if he gets sick (pulmonary)ask his pediatrician, Now can I have that referral? Look at see where a CF center is so you can be prepared to tell your pediatrician where you want your referrall to. That's about all I can come up with. I hope it helps if only a little. I have to go now. Anna is done with her treatments and we need to get out her out of the house and see if we can get her mind off her new port. Let me know how things are going.
Chacha