CYSTIC FIBROSIS? DIAGNOSTIC?

[lilasimpson]

Hi, in my earlier thred, i talked about how my dd, 2 has constant coughs and colds and had bronchiolitis at 2 weeks old...she had x ray done, it said bilateral peribronchial oedema, suggestive of viral infection..i just hope that is it...but have done more research, esp as i noticed a lot of the time, there was some fat floating on the water after poo, she is small for her age, and has constipation...however, she was tested at birth for cf and was negative...any expereince to reassure me please?? i am soo worried

any idea anyone?

If she doesn't test positive for the sweat test, I think the only other thing they can do is test her DNA but there may be a stage in between.

I would go back to your GP and ask to be referred to your nearest CF unit - it was a consultant who was convinced that my sister had CF because of her symptoms and finally found that she did had a second CF gene.

Keep pushing - if it's identified early then you and she will get the support you need.

lila - do you mean she was tested through the heel prick? I think that it doesn't test for all variations of CF just the more common ones. You could ask for a sweat test, it's not invasive. Sorry that you're worried.

yes she had the heel prick...my dad says i am over reacting but not sure...

The heel prick isn't a definitive test - the next stage after heel prick is a sweat test.

Ask for a sweat test, both of mine had it done and it was painless.

Persistent chest problems and failure to gain weight should be enough to refer for a sweat test - even if it is only to rule out CF.
A lot of GPs have never seen CF so you may need to jump up & down a bit but for peace of mind it would be worth it. The heel prick picks up a many cases, but not all.

Could mums of cf children advise me please, is the fatty poo there all the time? My dd is mainly constipated, today she has pood after 2 days, no fat at all this time, just some little bits floating no bad odour and good colour... Tasted her skin, no salt at all... Is the cough as bad day and night and is it everyday or there are good and bad days? Thank u so much!!

Another advocate for a painless sweat test.

I used to carry them out,and the children never seemed to mind them to much.

My box of tricks did used to look a bit Frankenstein,though!

Lila this is no help at all but with CF the bowel issues can change frequently , depending on the level of pancreatic function and also on diet.

Likewise with a cough - impossible to say - is it exercise induced, viral, worse when lying down because of congestion, there's no definitive answer. The fact is most 2 yr olds with CF do not have a constant cough at all.

Salty skin is the one thing that all CF parents will notice - with my DD it is very obvious ( once we had it pointed out!)

hi, as bubble says there are no real hard and fast rules about coughs and bowel habits.

my 4.7 yo DD has CF and has always suffered from 'constipation' - a CF bowel can be very sluggish - and takes all sorts of medication to keep her regular. However, she will have days where she has very loose stools that can be particularly foul. A lot will depend on the type of food she has eaten and how many enzymes she has taken with them (the more fattier a food, the more enzymes need to be taken and if you get the amount wrong you can get runnier poo)

As to coughs, some children with CF will have a semi permanent cough whilst others hardly cough at all unless of course they have a cold or virus or infection.

Just picking up on other comments, the heel prick test (as far as I know) picks up chemicals in the blood that lead towards a diagnosis of CF. Whilst it works most of the time you can occasionally get a false negative or positive result leading to children slipping through the net.

the sweat test is considered as the diagnostic test and is used to measure the amount of salt lost in a persons sweat (people with CF lose much more salt that everyone else). A figure below 40 is considered negative, anything above 60 is positive and then theres a grey area in between.

If a sweat test comes back positive then it is useful to have the genetic test carried out to help identify the type of mutations involved (there are over a 1000 recognised ones). this will help the extended family in getting themselves tested and in time could lead to appropriate treatment as some of the drugs being developed right now are mutation specific.

If you are concerned ask your GP to refer you for a sweat test but prepare yourself for a battle. As there are only about 9000 people in the country with CF most GPs will never have come across the condition and unless you have a sympathetic one in your practice you could be considered a neurotic mother.

the CFTrust (www.cftrust.org.uk) have an excellent helpline and they should be able to refer you to your nearest CF centre if you need to get some extra support behind you when dealing with your GP

Good luck

Oh and PS if I kiss my DD after she's been running around its just like kissing a packet of ready salted crisps - its that obvious!

Thank u all for your responses... So I gather the main common symptom is the salty skin , is that right? I tested her when she was sweaty and I did not notice excessive salt, would it be obvious??

It's a very unscientific test (though Dd's consultant did use it when she was first diagnosed! )
Lick the back of your own hand, and then your dd's hand to compare - doesn't even need to be sweaty, and yes in our case it is VERY obvious.

I would get a sweat test done just for peace of mind. My ds is very chesty and as my sister had CF I was pretty worried in spite of the heel prick test being negative. My GP was understanding and the sweat test was carried out quickly and with no hassle. Thankfully it was negative and I am so glad that I got it done or it would always have been in the back of my mind.

Thanks will see paediatrician 2 morrow....

Good luck lila :)

Good luck.
Hope you get some answers

have seen consultant peadiatrician who does not think it is cf but asthma...has given terbutaline syrup for now, will get tested soon for sweat still as i want to do it...