Sweat Chloride of 44 ??????

[JENNYC]

Ok so my friend that has the 20 month old took him for a sweat test yesterday and they had trouble getting enough sweat. What little they did collect came back with a 44. Ok friends recap: He's weight is 80% and falling his height is 45%, he has had 3 sinus surgeries, has a PICC line right now for flu and pnuemonia, is always sick with cold like symptoms pretty much since birth, foul non formed stools, and eats and drinks twice as much as her 5 year old. They are doing a blood test at the Mayo clinic and she should have the results within 5 to 7 days...I am worried that they are not doing the full genetic sequencing but we will have to see.

So my question.....has anyone else had this low of a sweat chloride.

 

[Justinsmama]

Hi,

Justin's numbers were both under 20. Don't remember the exact (maybe 14 and 19) but much lower than 44. His F1052V is known for passing the newborn screening AND giving a negative sweat test. My prayers are with your friend.

 

[JENNYC]

WOW!!!! Thank you so much for responding....she is just a wrecked little bundle right now You know the stage where you don't care if he has it or not you just want him to get better.

 

[HuntersmomTBM]

My 14 year old son was recently diagnosed with CRMS both his sweat tests were 40. CRMS=Cystic Fibrosis Related Metabolic Syndrome. I would follow-up with dr.

Colleen
mother to Hunter Tracheobronchomalacia, Innominate Artery Compression, CRMS
1RSV, 7Pneumonia's, 6Bronchitis' and 15Croups

 

[Justinsmama]

Hi Colleen,

My question, because I still do not completely understand some of this, is what is the difference between CRMS and CF? Our CF doctor said the only reason to do further testing to find my son's 2nd mutation would be to "satisfy doctors (I knew she meant one of the GI's we have seen) that want to split hairs between CRMS and CF". It was my understanding that (at least in our case) the treatments would be the same. Are kids with CRMS pancreatic insufficient? Justin is diagnosed with CF but I think she was saying (in his case) some doctors could argue for a CRMS diagnosis because the second mutation has not been found yet. We decided to wait until (for us) there is clear benefit to further testing.

Thank you in advance.

Josette

 

[LittleLab4CF]

As hard as medical science is to condense into a simple technology, the rather simple but ingenious sweat chloride test flies all directions. Humans are a successful lot in part do to our diversity. Once test and person meet it becomes so complicated we have to resort to statistical analysis or probabilities by percentage to say it another way. Focusing on the best course of treatment was right. Although I am thouroughly sick of sweat chloride and genetic testing it is another 600lb gorilla in the room. Ignore it at your peril? Maybe, maybe not but it needs to be put and kept in its place.

If the doctor didn't mention that both tests fail to confirm the obvious in a fair number of confirmed CF patients he unwittingly caused a little anguish. He or should have at least told the parents in a discussion afterwards. I could run both a sweat test and a pretty representative genetic test in my own lab so maybe I understand too much. Every week, new threads query over one or both tests at this Web Forum. This is a constant issue where a conflict between diagnosis and test raises the alarm of another patient straddling the chasm of medical doubt.

Parents relate horror stories of medical malthesis (giving incomplete or misleading information) where somebody unable to empathise, coldly tells parent and patients they aren't sick according to numbers on a test. A lot of people sweat easily, others do not, although through conditioning most can. I have written often on how to go about that process. (Repeated over a month or longer have a person engage in some form of exercise near the maximum limit of endurance half an hour to an hour a day. Environment should be warm and maybe even dressing in cold weather clothing as suggested by some other frustrated parents.) This is a lot of effort and some will still come up with numbers confirming only the test failed. Some parents and patients won't be confirmed ever and many will test in a year or five years and be confirmed.

Being told you have CF should be a solemn moment but I raised my arms and yelled YES, YES, yes! "Most of my life is before me so a shan't mourn....". Not so much excitement if diagnosed very young but if anybody with CF feels absolutely fated know that fate could never be kinder for CF than now.

Genetic testing for me was exciting only for its novelty. As a scientist, as a geneticist, I held little hope for a genetic medicine. For a century now science fiction has predicted this day. Kalydeco isn't just a novelty. It carries the immense weight of being the first truly genetic medicine and CF happened to be a near ideal single gene disease to try and completely succeed at one. Science and technology have been integrated to make a medicine that goes to the absolute location where a CFTR gene mutation resides and fixes it

In the last week I have been peering into the eyes of the CF community trying to understand what pleads back at me. I may have finally caught a sense of all this consternation. Cystic fibrosis is a rare disorder and not every doctor, let alone everybody in the general population is well informed. I am fortunate to live close to National Jewish (Denver CO), although it was just another building, until being diagnosed at 52. Just understanding the variations in CF patients involves two or more additional specialties. Everytime I go for CF clinic my generally good lungs get a going over. My issues mainly reside south of my lungs so I feel like I'm getting undressed for an ear infection sometimes. Boston understands my lower half considerably better and it demonstrates that resouces seem spread scarcely throughout the country.

Imagine me squatted in a pre school chair at Boston Children's Hospital waiting out a sweat test. One parent complimented me on enduring the test just to calm my grandchild. I can't even have Kids! It was not a confirming test. My brother and I drive different bodies. When we used to rock climb together I carried climbing equipment and he went up with the water. He consumed half a gallon an hour and I had a couple sips. He sweats like the athlete he is and my skin is so acidic from scant, viscous sweat, watch bands last only a month. I did just what I described to condition me to perspire vigorously and two confirming sweat tests later my brand new CF specialist informs me I am a mere CF carrier from genetic testing. I understand the technologies behind both tests well and it was more fun than confusion for me.

It is such a short, statistically thin, wildly contradictory set of easily skewed noise that claims so much of our lives are open to interpretation. They are just diagnotic tools for the most part. With the obvious exception of Kalydeco and what else it can do, knowing if you are genetically CF is of no other value. I recently re-read a pm from one young woman with mild CF genetically identical in CF terms to her absolutely ravaged precious bother. This is so easy and so exasperating. Worst of all this has nothing to do with helping parents and patients manage CF. We are people with life and death decisions to make for ourselves or, God help us, our child or children are listening and trying to attach meaning and direction to sweat chloride and CFTR gene mutation tests.

Doctors are famous for not volunteering information. I discovered fairly young that there is some wisdom at work here. Before going overseas at 22 I had a physical. I had some complaints and wanted to be sure they weren't an issue. A doctor, never seen prior, made the alarming discovery that my liver was nearly doubled it was so enlarged. My next bowel movement brought the "liver" down to size. There were some tense days when I saw my future turn from Europe to hospice. CT confirmed constipation. It is an information malfunction, much like a wardrobe malfunction excepting the boob that popped out is a doctor unnecessarily burdening a patient by guessing out loud.

LL

 

[AmalynRose]

I cannot say much for the sweat test, but I do want to say that your friend's child is in great hands at the Mayo Clinic. I have been getting care there for well over ten years and recently found out I had CF through their clinic. The doctors there are great! If your friend wants a CF clinic and lives in MN, I recommend Children's Hospital through the University of Minnesota in the Twin Cities. My 6 year old cousin with CF has her care through them and they are wonderful! My aunt is able to call them whenever she has questions and they always make the time to ensure that my cousin is receiving top notch care. Mayo is wonderful, but Children's is the best in the state for CF children.

 

[tysmama]

My son had a 55 with coil method and then 29 with gauze method. Both vastly different but still under the 60 confirmation. Either way after genetic testing was found to have mutations confirming diagnosis. Gene testing Is solid answer.

 

[Beccamom]

Did Quest or Ambry do Justin's genetic testing?

Hi,

Justin's numbers were both under 20. Don't remember the exact (maybe 14 and 19) but much lower than 44. His F1052V is known for passing the newborn screening AND giving a negative sweat test. My prayers are with your friend.

 

[WildCherry]

Josette,

I think CRMS is going to be a catch all place for people like my son but of course every doctor is different in the way they approach diagnosis but this is what our hospital does. He has two mutations but one of them is rare and has an unknown clinical significance. He has a normal sweat test and he has no signs or sypmtoms of disease. But because he has two mutations and one of them is clinically insignificant at this point he will get the tag CRMS rather than CF. Should he ever have symptoms that would change obviously. Per diagnostic protocol though they can't diagnose him with CF based on mutations alone since CF is still a clinical diagnosis. That's what I understand from our experience anyway. We do no treatments and will visit the clinic only once a year unless he shows signs of CF.

So if you only have one mutation but have symptoms and a borderline sweat test they can clinically diagnose as CF. We have two mutations and no symptoms and a normal sweat test therefore we get CRMS. Sometimes I think CRMS is like a waiting room. BUT I've also read of people who have CRMS and they do treatments and everything just like a typical CF patient. Who knows. I 've stopped trying to understand and just take it day by day and I pray for the best outcome for my son.

Hi Colleen,

My question, because I still do not completely understand some of this, is what is the difference between CRMS and CF? Our CF doctor said the only reason to do further testing to find my son's 2nd mutation would be to "satisfy doctors (I knew she meant one of the GI's we have seen) that want to split hairs between CRMS and CF". It was my understanding that (at least in our case) the treatments would be the same. Are kids with CRMS pancreatic insufficient? Justin is diagnosed with CF but I think she was saying (in his case) some doctors could argue for a CRMS diagnosis because the second mutation has not been found yet. We decided to wait until (for us) there is clear benefit to further testing.

Thank you in advance.

Josette

 

[Ratatosk]

Ds had a sweat chloride of 32, so normal. However, Mayo testing, which was ONLY for the most common mutations showed he had CF. We got the results back within 5 days.

 

[LittleLab4CF]

Hi Colleen,

My question, because I still do not completely understand some of this, is what is the difference between CRMS and CF? Our CF doctor said the only reason to do further testing to find my son's 2nd mutation would be to "satisfy doctors (I knew she meant one of the GI's we have seen) that want to split hairs between CRMS and CF". It was my understanding that (at least in our case) the treatments would be the same. Are kids with CRMS pancreatic insufficient? Justin is diagnosed with CF but I think she was saying (in his case) some doctors could argue for a CRMS diagnosis because the second mutation has not been found yet. We decided to wait until (for us) there is clear benefit to further testing.

Thank you in advance.

Josette

CRMS (CFTR-Related Metabolic Syndrome) is a kind of lipstick that we used to smear on a hog and take it dancing. Imagine all the red faces when two siblings with identical CFTR genetic profiles didn't both present CF? A young healthy woman follows theads trying to attach some meaning why her brother and not her is being ravaged by CF. I didn't know what CRMS meant and I made a quick study at CFF's (Cystic Fibrosis Foundation) web site. http://www.cff.org/AboutCF/Testing/Genetics/CRMS/

I think some well intentioned person or group decided to make another stab at simplifying CF for people. Most likely some influence came from the rather embarrassed geneticists who for the umpteenth time had gotten it wrong. More kindly put, scientific questions have been answered by a new set of questions.

Wildcherry pegged it. It is the latest buzzword catch all for non homozygous presentations of CF. Genetically ideal CF is when the same CFTR mutation is inherited from both parents. (Example; genetic tests reveal two copies of DF508del (a CFTR mutation at location 508)). The reasoning is, if a person inherits the same mutation from both parents, they have CF. Technically this is an absolute. The job done by the (sodium ion) Transmembrane conductance Regulator (TR) gene in theory could be templated from either copy encoded in the halves of our DNA and we are technically just carriers. In theory, a healthy gene works while the other fails to complete the job. Oh, if it were so simple, we are people, not pea plants!

The jury is in, having fully sequenced the TR gene, all potential permutations of the CFTR gene mutation can be read through exhaustive genetic testing. With all the new information, identical mutation pairs aren’t being discovered. Everybody bet that not finding a matched pair from an earlier genetic tests would be proven true when every mutation had been counted. What good it does over the damage is largely something to come. We, and I include myself, are being separated from the CF community over semantics. Clinical diagnosis of CF is another way of saying if it looks like a duck, quacks like duck, it is a duck for practical purposes. The difference between a healthy homozygous (containing two identical genes or gene mutations) and heterozygous (containing only one gene or one specific gene mutation) is specific in genetics and absolutely contrary in living people.


There is great importance, in fact, behind what I have been throwing matches at. As the first genetic drug just happened more because CF was a near ideal study than ending human suffering, we are a hot property right now. In order to determine what to do next, am fairly certain medicine is weeding out what has otherwise been a fairly inclusive disease. Missing the mark is too great a risk to be muddled in the sub group of clinically CF, genetically ambiguous, population.

The use of arcane terms and acronyms of acronyms is a cross science bears and shouldn't unduly inflict terms that aren't self revealing in their meaning to the broader church. The CF community ranges from people who have CF and think it is a curse from God to technologists, theoretical geneticists and very informed caregivers. I won't argue with either extreme, but I am keeping an ear open to the entire spectrum of patients, parents and practitioners. Some are being distracted by this complicated language.

CF is a little like owning an exotic pet. The curious, asking questions have driven us to learn more than we ever wanted to know about a novelty on leash. The inventions I cherish must be defined in common language if they are to have any meaning to others. Considering that dolts with degrees in this stuff are often not current on CF I am genuinely impressed at how educated and passionate CFers are. Be patient or parents, we are a studious lot. I learn something new in every single post. Sometimes what I learn is that once again, we are processing new information about CF. We are keeping current.

CRMS certainly sounds like they are pointing out GI over pulmonary patients but is purely dividing the sheep by their bleats. The wool seems to be of no importance. Don't be fleeced by any diagnostic minutia. It is neither worth the money or the misery at the moment. Someday it may serve to help manage the disease but knowing in this case is of no practical value. It won't change the course of the disease. GI problems associated with CF end up very conventionally treated. You treat gas, constipation, malabsorption, GERD (acid reflux) ad infinitum the same way whether you have CF or a just ate a bad meal.

As somebody posted recently there is more medically in common with COPD from smoking and COPD from CF than either would like. The same horrid MRSAs, yeasts, viruses and tubercleocytic (TB like) drug resistant infections. And Grandma and Grandson can kill the other with a kiss, so there goes the extended family. More to the point, the extended family I am talking about are all the microbial variety. Focus on this family for treatment.

Buy a toy badge, it is much cheaper and it come off.

LL