Suspect CF.. Even possible? :/

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mumof3xxx

Guest
Hi Everyone, Just a Post for a bit of advice, I have a 6 year old boy. Hes a small boy both height and weight, He has been ill for the last year, about 20 times in total :/ But it only last for a few hours, a few times a Month. When it does happen his glucose levels rise, and Ketone levels, Abdominal pain, Head pain, Vomitting. Can last from an hour to 6 hours. hes had diabetes test which is negative. They thought it could of been periodic fever syndrome, but last episode showed no fever. Well anyway, Our last visit to AnE he had lost weight since his last ped appointment. His peditrician rang me a few days ago requesting a Cystic fibrosis Genetic test, And a sweat test, He has previously had a sweat test when he was a toddler, but came back normal. Can this be possibe? when hes already had one sweat test. I will list the reasons why they are requesting this..

Since birth he has had problems with his Weight. He had Chronic sickness when feeding from birth upwards, He chad bad bowel movements, Very hard to handle to smell also!. And now all this, Abdominal Pain, and High readings on sugar and ketone levels. And my brothers two children have Cystic Fibrosis. Obviously im worried so much, as deep in my heart i know there missing something. but im 99% sure it isnt Cystic fibrosis, as he hasnt had any hospitalisations (apart from 2 for dehydration) And of course the ones recently for these spouts of illness's he gets for a few hours. but not admitted for longer than a day. He hasnt had any lung problems apart from the usual cough and colds..

And today I have recived a copy of the letter my PED Wrote to the community nurse that deals with the sweat tests, saying could you arrange a sweat test, he previously had a normal sweat test however he has significant symptomatology and a strong family History of Cystic fibrosis.. im clueless what hes means by he has significant symptomatology. Im not sure when his sweat test is, But his genetic test is in 3 days, how long for the results? Can any1 help? I feel selfish because it isnt the test i feel he needs? :(
 
R

Ratatosk

Administrator
Staff member
DS had a normal sweat test as a baby; however, his genetic testing showed CF. I have a friend who didn't find out until her daughter was 3 that she had CF. She was small, but never got sick, did have some stomach issues. When her brother was born, newborn screening showed CF, so they tested her as well and found CF.

Sweat test results can come back within a few hours. Getting blood test results back depends upon the type of test. DS had a basic 32 gene panel done at Mayo and it came back within 7 days. More extensive tests for over 1500 genes with deletions, etc. can take up to two months.

Also DS symptoms were primarily digestive to begin with. Had some sinus issues, but didn't really have lung issues. Had bronchitis once.
 
P

Printer

Active member
There is so much going on here. First thank God that you have a PED that is knowledgeable and looking out for your childs wellbeing. Forget any prior sweat tests that were not administered in an Approved CF Clinic. Local hospitals do not do the same sweat test nor do they have CF trained administrators.

I have a reputation for being blunt on here, I'm not giving that up in this reply. Your son seems to have "failure to thrive" Abdominal and foul smelling stools (perhaps bacterial overgrowth). I see digestive and I suspect pancreative issues. Most importantly, your brother and most likely you have at least one CF mutation.

Mumof2xxx, you are in denial. There is no possible way that you can be 99% sure that you son does not have CF. Actually I would bet that he has.

Get him to an Approved CF Clinic and have him seen by a CF Specialist as fast as you can.

Bill
 
A

albino15

New member
Just wanted to add that people with CF can become dehydrated easier than people without CF so I wouldn't discount his episodes of dehydration.
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