this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

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Heather --- momma to Alyssa (born Jan 2006 with CF),
and Reese (6) & Richie (8) -- both CF carriers

www.freewebs.com/teamalyssashope

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

Edited: 12/10/2007 at 03:35 PM by badjaw

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.

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Mother of two great kids ~ 20 and 22 years old, both w/CF
normal sweat tests but genetic testing revealed two common CF genes
~ Delta F508 & R117H ~ full details on the first entry of my blog page Alyssa's Blog

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

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Mother of two great kids ~ 20 and 22 years old, both w/CF
normal sweat tests but genetic testing revealed two common CF genes
~ Delta F508 & R117H ~ full details on the first entry of my blog page Alyssa's Blog

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!

vmccoma

unfortunately what it probably means is he does in fact have CF. There are many cases now that are classified as mild or a-typical for many years because the patient doesn't have many CF symptoms and/or what they are experiencing so far is not very severe.

My kids are two very good examples of "normal" sweat tests and "mild a-typical" cases (read the first page of my blog for full details) but when we ran the full genetic testing we did find two CF genes.

I don't want to discourage you from hoping that he does not have CF, and you should wait until you meet with the specialist and get genetic testing, however from what you have described it does sound very possible (and also very similar to what happened with my daughter) that he does have CF. If this is the case, the good news is early detection and treatment is a real plus from here on out. He will benefit from preventative and maintenance therapies, along with being followed by a CF specialist and should remain healthier because of it.

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Mother of two great kids ~ 20 and 22 years old, both w/CF
normal sweat tests but genetic testing revealed two common CF genes
~ Delta F508 & R117H ~ full details on the first entry of my blog page Alyssa's Blog

thanks for helping me understand
i kind of feel that he does, but just thought its weird bc of how he presented. he has milk allergies and acid reflux, we were hoping those alone along with coming down with a gastoitestinal virus. i have a team of three cf doctors and the most experienced one thinks he has it based on sweat test, the other wants more proof, and the third thinks a good chance it might not be. we are treating him as if he does and if it comes back positive they will label him with cf, but if the gray area we will be allowed to go for a second opinion. alyssa are you children very healthy?? and do they play sports??will they have children?? the thing i am scared is that if they cant see the genetic form they carry they cant tell me what the outcome of the disease will be.
thanks for talking

i also called my insurance and they said that the blood test that was sent out was a molecular test? not sure what that means and they did not see ambry's name anywhere. but my doctor did say it was the long genetic test. so i guess i have to find out what company did this test bc i heard ambry is the best. does anyone what other company in california does genetic testing??

Thanks for replying. We are prepared to accept whatever it is that the doctor is going to tell us. I guess I just had it in my mind that a child with CF is much more sick than what he has been. With the exception of this fall, he has not had any problems. I am so thankful that the pediatrician did refer to the sweat test, though, because we had been seeing a different one until this spring. She just suggested we do as a routine thing, and we would never have thought he would have such a high score. What I would like to know is what is involved in the gene testing and how they do it. This is our next step. Thanks.

I have to agree with Alyssa. My son presented much the same way, only he had a "cold" from bout 3mths old til he was hospitalized @ 7 mths for breathing problems. He hasn't had a flare-up in 4 1/2 years. However he does have low weight and is short. He didn't have the typical (as if anything in cf is) gresy, smelly stool or anything, nothing to lead us to cf. It turns out his pancreas and digestional tract are most affected and the pancreatic enzimes are making a big difference. I hope you all the best, and hang in there. The not knowing is the hardest part I think.

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Valerie, mother to Trystan, 12, w/o CF, and Noah, 9, w/ CF, Autism, ADHD, and GH deficiency, unknown mutations, pancreatic insufficient.

vmccomas
The genetic testing is just a simple blood draw - the hard part is the waiting (it's usually 6 weeks or so) and getting a full genetic test ordered - the most expensive one is the one you want ... which can range somewhere around $2000 give or take another $1000 or so, if I remember correctly.

badjaw

Please read my blog for more details about my kids. But yes, in a nut shell they are VERY healthy. They are pancreatic sufficient (so they don't have any digestive/absorption issues). Yes, they participate in sports, yes we expect our daughter to have children, but no we do not expect our son to (but we don't have the proof there yet because he doesn't care to get tested) but the information out there about the two genes he has makes it sound pretty likely that he does not have the vas deferins.

About wanting to know your child's mutations so you cant tell the outcome of the disease.... yes we all agree that it is helpful to learn the genetic for several reason, but do not hang your hat on any of it for sure, because so much goes into it besides genes only.... you just never know. But yes, generally speaking if one of the genes is a class 4 or 5 that usually means a more mild presentation. But the thing with CF is you just have to take things as they come.... even people with the "mild" cases still can end up in trouble in a hurry, so even if you never get confirmation of his genes, you will be in the same boat as the rest of us.... just getting through one day at a time, trying to remain as healthy as possible for as long as possible. The important thing to remember is getting the proper care and being followed by qualified CF physicians -- you are getting that and it is worth your weight in gold!

Regarding your question about other companies that might be in California -- others may know this but I still think posting on the family section to the Ambry post would be your best bet -- ask Steven if he can find your son's test (if they have it he can tell you what was ordered) or if he can tell you who else besides Ambry might be in California.

I would be happy to share with you any more information about my kids, feel free to send a private message through this site and we can talk more about that if you have more questions.

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Mother of two great kids ~ 20 and 22 years old, both w/CF
normal sweat tests but genetic testing revealed two common CF genes
~ Delta F508 & R117H ~ full details on the first entry of my blog page Alyssa's Blog

Just to let you know, there are quite a few adult diagnosed mild CFers on this site in the Adults and Pregnancy forums if you'd like to get a feel for what to expect with mild/atypical CF. We tend to have lower sweat tests (mine was 36) and slow progression/adult onset of CF symptoms.

Is it possible to have a borderline sweat test and still not have cf? Or is it more likely that my son has an undiscovered (?) or rare genetic mutation that even the full panel will not pick up?

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Valerie, mother to Trystan, 12, w/o CF, and Noah, 9, w/ CF, Autism, ADHD, and GH deficiency, unknown mutations, pancreatic insufficient.

My son also had borderline sweat test. they only found one mutation, but also a 5t/11tg variant. so i was told he has a "mild" form of cf, what they call atypical.....he has some symptoms, but not to the extreme like alot of cf'ers do. he is not on enzymes, but has asthma w/ cf so he does breathing treatments and cpt "clapping" as needed. he takes singulair for allergies, and prilosec for severe acid reflux. his tests show good on pancreas, but although nothing is found, he still has trouble with bowel movements. in the long run he may get worse, may be the same. they donno. but he will be treated as if he has two mutations. every cold and virus will be taken seriously. flu shots, etc. he is underweight, but he doesn't eat good at all, so we dont know if his bowel problems are from that. so, i wish luck, and there are alot of good people, who can help u. even if you think it's a dumb question, dont hesitate to ask. i have only been in the cf world 6 months, so i'm still learning too. it's scary, cause there's alot of questions that may never be answered, "just have to wait and see, every case is different" even with the same mutations. as in my son's case, his should have no affect respiratory wise, but in reproductive. well, this all started because of respiratory problems. so it's good to know mutations, but it's definitely not a crystal ball. good luck, welcome

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Carrie Mom of 4 boys(3 normal sweat tests) Wade 3, atypical CF with symptoms(R117H,5T/11TG) Check out CF stuff @ http://www.cafepress.com/CLAWSON050104 www.caringbridge.org/visit/wadelawson

We are going on Friday to the doctor at UVA to get the testing we need in order to find out if he does indeed have CF. Just keep us in your prayers and I'll let you all know something as soon as I do.

valigirl21:

All I was told by my CF doc is that they are concerned about anyone with a sweat test above 30. I guess when your test is that low the diagnosis requires other factors like genetic testing and symptoms.

B