Daughter without CF

samb

New member
My 5 year old daughter has never been diagnosed but has never had it officially ruled out. She has had over 10 sweat test but they are all incinclusive because they can not collect enough sweat. I have asked our cf doctor if there is any other tests we can do or genetic testing. He say that he is not aloud to order a full genetic test until we get results from a sweat test. I feel like we are stuck... she cant sweat enough to get a result... she cant get genetic testing done. Where do we go from here???? She has been complaining almost every time she eats of tummy aches and has frequent diarreah, she has had numeroud cases of bronichittis and has had pneumonia.
My youngest daughter almost 2 was diagnosed at 5 weeks.

Any advice on how to get my daughter to sweat more would be welcomed too.. she is well hydrated and we have tried with her snow suit on running around, we have saran wrapped her arm over the collection thing... im lost!
 

JENNYC

New member
I'm no doctor but that sounds like a straight up lie! I was under the impression that the dr can order what ever test he deems necessary. I'm pretty sure that I could go get a genetics test right now if I chose to without a sweat test. I would find another doctor, doesn't sound like that one is to reliable. Lord knows I went through about 20 doctors or more literally before I found one that diagnosed my daughter. I would forget the sweat test and go genetic screening all the way. Especially since they would know which genes to look for since your other daughter already has it. Best of luck!! Hope you can find a doctor that truly cares about his patients and not his time. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

samb

New member
we are in Canada and he says it is different here. I'e been trying to figure out since Nov 2010 <img src="i/expressions/face-icon-small-sad.gif" border="0">
 

Printer

Active member
Call the CF Center at Children's Hospital in Totonto. It is one of the best CF research hospitals in the world. Explain the situation to them. Secondly call CFF in Maryland USA.

Bill
 
M

Mommafirst

Guest
Our CF center routinely geneticly tests siblings with the two mutations of the CFer to make sure that the sibling isn't missed. It wouldn't be very expensive sinc eyou know your CF patients mutations. I have no clue how to make them sweat. My daughter also really struggled to sweat for the sweat tests. Her brothers got gene tested, but never sweat tested.
 
K

kross10911

Guest
There has got to be a way. If you are a carrier and obviously you are since you have another child with CF there has to be a way. Im not sure how your health care works up there but I feel for your little girl. Im in the US and I remember back in the day 1990ish ( I was 4) when I had to do those sweat tests and I NEVER had a positive one, I was in the same boat as your daughter, I even remember the snow suits in JULY and saran wrap and all of those tricks and it just simply did not work for me.

FINALLY a dr took control and got me the blood test and there was no doubting after the genetic screen I had CF. Can your doctor at least try some enzymes to help relieve your daughters tummy troubles? Or does that require the CF diagnosis.

Best of luck!
 

samb

New member
I am going to give her some of her sisters enzymes since they are all free anyways it shouldn't hurt to give her a few. I also take them since I have had my gall bladder removed if I am eating anything extra fatty. I am going to try to call the hospital in Toronto see what they say. She has another sweat booked for August when we have a clinic day for her sister. If she doesnt get enough sweat again I will be demanding some other sort of test. It has been nearly 2 years I should know for sure by now wether or not she has CF. I am just getting so fed up of waiting. She has only started complaining of tummy aches the last year I dont know if it is possible she could just start showing symptoms like that?
 

Julie7

New member
Wow, this is unbelievable and scary that they won't test given siblings. What about some basic stool tests through a GI doctor, given complaints of tummy ache and diarrhea?? Perhaps there are some malabsorption issues that would help justify genetic testing, though I think you already have enough justification.
 

samb

New member
It just really scares me because CF has never been ruled out. In alberta her younger sister was tested at birth but when she was born it was in BC and a year before they started testing at birth. I just dont want it to slip through the cracks!!
 

CFkitty

New member
This story sounds so odd. It's better to know sooner than later so that her physician(s) can create a treatment plan.

When my niece was born, the hospital automatically did a CF test on her and they found out the results right away. They now test every newborn; they didn't even know that there was CF in the family, so it can't be that cost-prohibitive or "useless".

Can you get a second opinion or appeal your insurance (if it's an insurance issue)?

Other tests that can/might be done is a Fecal Fat test (if she's having digestive issues, as you explained), throat cultures (to detect bacterial pneumonia or staph strains), checking vitamin levels (to assess malnutrition and nutrient deficiencies), etc.
 

samb

New member
The doctor says that here it is an issue of having to get a positive sweat test done in order to qualify so to speak for a genetic test. I think you would want to know sooner than later especially with her younger sister having cf and being diagnosed at 5 weeks old. I just find it so stressful that they keep wanting to run sweat test after sweat test but not try another route. I'm not too sure how to go about a second opinion with a CF doctor because here we were refered to see her doctor when she was diagnosed. He is really an AMAZING doctor and I have only this complaint. Its not an insurance issue at all just a loophole possibly? In BC they started testing in 2008 and my daughter who we arent sure of was born 2007 so she missed the newborn screening by a year luckily my younger daughter was tested at birth and that is how she was diagnosed.
 

concernedmom

New member
Can you ask the doctor to file an appeal (don't know anything really about Canada's system but I would assume there's an appeals process.) Appeal on the grounds that continuously repeating sweat tests will/is probably already more expensive than just running the genetics test for the two mutations that her sibling has (assuming both siblings have the same parents.) It's a simple matter of finance.
 

Aboveallislove

Super Moderator
I am so sorry for what you are going through--you must be so frustrated, angry, and scared.
I have no idea if this will help but for our son they had us give him salt the entire day before his sweat test--he was 12 days old and I was told it was because they don't sweat enough. Not sure if you've tried this, if it will work, etc.
God bless
 

samb

New member
I will ask about an appeal. It does seem like we are really gettin no where with the sweat test and I am getting frustrated. I will try feeding her salt before her sweat August 1st. Not too sure if it will be easy to get a 5 year old who I never add salt to her food to eat it tho :s. Worth a try I guess!!
 

Aboveallislove

Super Moderator
Maybe just a pinch in all her beverages, but also maybe try giving her the shaker with something that salt is good and and that she likes--I've never known a kid who doesn't like salt!! I use to dump it on all my veggies so you could see it and even spoonful of it at a time of salt as a kid. And DS likes "salt water," i.e., water with a lot of salt in it! Hopefully that will work.
 

LittleLab4CF

Super Moderator
This story is old enough to shave. I recently have heard in posts and in private messages, this exact problem. I have noticed from long distance bicycle rides (RAGBRAI, criss crossing Iowa in summer @500mi. etc) that when I start out, I am super hydrated with a sports drink like Gatorade, only better. I just don't sweat, I stop about every ten minutes to pee, but I am dry as a bone sweatwise. By the middle of the second day, the flood gates have opened I am carrying extra water in case sweat gets past my two sweatbands into my eyes. Like a spitting cobra had just nailed me, it burns like saturated amonia solution. Yeah its got salt. Salt builds under anything like my ring or watch. I get a daily buildup of something resembling putty under my watch. It's salt putty.

So, here is my thinking, before you take your child for a sweat test, train her to sweat. Start by hydrating her on say, Gatorade, maybe sneak a little salt as suggested into the drinks. Then dress her up in winter clothes and play aggessively with her until she is shot. Do this several times a day, you know when to stop, every day until she sweats like there is no tomorrow. My bother, if asked what he is, would probably answer, he is an athelete. He has been one his entire life and at 67 he still starts his daily workout with 200 situps. He clued me in decades ago about training yourself to sweat. I am the ultimate empiricist and did my own sweat tests to confirm his belief.

Having said this, there are many "preventors" that can interfere with this plan. If your daughter is taking medications that cause dry mouth, like anti-siezure drugs, anti-depressents, or whatever. A talk with her Pediatric doctor will give you that answer. Since she has bouts of diahrrea, pedialite, if she needs some contains loads of electrolytes. You know the drill, this is not something you do without running it by her doctor.

Toronto Childrens that Printer mentioned, is a freely given, hand polished pearl of wisdom. Although I subscribe to the axiom, trust but verify, nothing he has posted, that I have seen, is anything short of hard won, well paid for, wisdom. Just think everything he says is being shouted, he says little and speaks volume. I am somewhat guilty of the converse.

Call your family doctor, have him order a genetic screening for CF and though I have been chided for this recommendation, go see a GOOD hopefully specializing in CF, Genetic Counsellor. I agree with everyone, this doctor may be attempting to remain in the good graces of your health Insurance, by avoiding an expensive test. It isn't anymor expensive than an MRI, but it isn't a CBC either.

It's a thought.
 

LittleLab4CF

Super Moderator
As a side note, genetic testing isn't all it is cracked up to be. You may find that your daughter is a CF carrier, and since CF requires two identical CFTR gene mutations to be confirmed genetically as CF, the autosomal recessive mantra about carriers not exhibiting ALL the same symptoms of CF doesn't cypher. To paraphrase one brilliant post, if it looks like a duck, quacks like a duck and walks like a duck, it is a duck for all practical purposes.

I understand the need for an up or down diagnosis. I was 51 when my sweat test confirmed CF. The genetic analysis, is a different matter. I had the gentic test done ten years ago and it is time to repeat it. The technology and God, I hope, the reliability has gone way up.
 
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