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Original poster

Frantic mum - ds being tested for Cystic Fybrosis

59 replies

Joshjunior · 27/01/2004 11:01

ds has continued to make only small weight gains (2-3 oz wk). Saw consultant yesterday, wants to test for Cystic fybrosis - dh and myself devistated that this may be the problem. Have to wait over a week to get the test done. ds is fine in himself, is on Neocate food due to cow protein intolerance, poo is soft and green but apparently this is normal on Neocate, consultant appeared concerned by this. ds is 10 weeks old and 8lb 3oz. Has anyone else been in this situation. Help!

OP posts:

MABS · 28/01/2004 20:59

No Fio2 I think you are totally right and you so obviously speak from experience.

Original poster

Joshjunior · 28/01/2004 22:10

JennH - ds was born 15th November and was 17 days late by the time he arrived!
fio2-not offended at all by your post. In a way I know it will be best for him if he is diagnosed early, it's just turning me grey in the mean time!
Have to say that having you all to 'chat' to really has helped. Thanks. Will keep you updated. Test due next Wednesday. By the way, ds has now developed eczema. Does come from an 'allergic' type family on my side. ?sneezes a lot as well and is a bit 'phlemmy' (?sp) when he drinks, one cough appears to clear it though ?related, any thoughts?

OP posts:

Clarinet60 · 28/01/2004 23:00

Thinking of you and hope the news is good.

fio2 · 29/01/2004 07:59

have had a read now and dont really have anything else to add, everyone has already said it! Another one of the symptons can be 'spooning' of the finger nails and toe nails, but really it is usually just repeated chest infections, projectile vomiting, green very smelly loose stools and salty skin. It is much better to get tested early like you say. I have to agree with tanum and say it is good gps are referring sensibly now, but unfortunately some children are still not getting tested until far too late. My sister was 3 1/2 when she was diagnosed. I thought it was unusual for kids with cf to be missed nowadays but it does still happen. Recently I met a woman at a mother and toddler group. She was having various problems with her ds. I asked whether he had been tested for cf? (discretely i may add, i did not just blurt it out!) he hadnt but she asked for a refferal and yes a sweat test was positive. I could tell from his symptons it could possibly be cf and yet she had seen several paeds who had come up with toddler diareaha (sp?) he was four! sorry i am most probably going off subject now!

Also dont worry about the sweat test, it is painless. My two have had it (dont know exactly why though because I am not a carrier)

On the allergies front, I did read somewhere recently that carriers of cf usually do suffer with asthma, eczema, allergies of some description. I dont know how true this is, but there are certainly allergies in our family.

I have most probably gone on too much, but if you want to ask me anything i will try and answer your questions ( I am not that clever though! just speak from living with someone with cf) I hope your little boy is ok though and agree that failure to thrive can be caused by many things. My dd was failure to thrive too but for a totally different reason

maddiemo · 29/01/2004 12:49

My ds3 was tested for CF when he was a toddler. He had failure to thrive, repeated chest infections and dirrhoea. The wait for the result was stressful and we were pleased to get a negative result. He is now five and still very small but generally healthy.
I hope everything goes well on Wednesday.

Lil · 29/01/2004 14:26

Josh my dd had repeated chest infections and rapid/distressed breathing at 5 months and she was tested for CF straight away.Her test came back on the borderline, so she had her stools tested for CF and that came back negative (mucus and light colour are the signs). The test is not actually painful, but it is uncomfortable for them aso be ready for lots of crying..I do think its worse for the mum than the child though!

As has been said, there is a range of CF, and since then dd has been tested 3 more times for CF as some of her symptoms were typical of CF. But after a year of tests etc I now know that chest infections and weight loss are also symptoms of lots of conditions; reflux and lung disease being the two most common.

good luck...there's nothing more stressful than your sick (and undiagnosed!) baby.

Luckymum · 01/02/2004 14:04

Joshjunior...just thinking about you and wondering how its going, hope that you're not worrying too much.

AndiPlusOne · 02/02/2004 12:12

Forgive me for butting in with a not too serious reply...Although the facts really are true...My answer would be not to worry until you really have to because they grow so fast that you might miss the fun. My son is now 3 yrs old. Had very similar experience when he was 10-12 wks old. (He also had some kind of dairy intollerance). The initial Guthrie, (which I was later told was a cheaper method of testing for any indication of a need for propper testing), came back as "possible / borderline" cystic fybrosis. Apparently, in Scotland they do the more expensive test first! Our local children's hospital wanted us to wait for counselling BEFORE they took a sample for a more accurate test. We demanded that they did the test straight away but still went through the most awful long wait for results....And... For a while we joined the band of parents demanding to know "Does my baby taste salty to you?" Which seems pretty bizarre to any visitor if you try to get them to taste without any explanation or even taste other children "just to be certain" . He also had eczema which we were later told is very common in red-haired and fair skinned children (as is asthma). Finally all came back clear with a referral to a dietician. For a while we relaxed and enjoyed until the next health issue. Latest worry is Glue Ear causing problems with communication. Now we really are grey!

Original poster

Joshjunior · 02/02/2004 14:35

To Luckymum, thanks for the thoughts. Have just had ds weighed and he has put on 7oz in the last week! Is due for his CF test on Wednesday so will post once we know the results.

OP posts:

hopey · 02/02/2004 21:19

Dear Joshjunior, please try not to worry. It is part of my job to carry out sweat tests on children and the amount of positive results I have seen have been so small. Doctors these days seem to screen for cf as a matter of routine in any child which is perhaps a bit small for their age, or are having recurrent chest infections. Please try not to worry. As for the test itself, it is painless. The most the child feels if a pins and needles sensation. If you want the procedure explained further, I would be glad to help.

Harrysmum · 03/02/2004 09:15

Dn is 5 1/2 weeks and her CF has just been confirmed following a sweat test yesterday. She is in Scotland and was tested after her Guthrie flagged concerns (although there were many other signs e.g. green poo, continued weight loss, voracious appetite etc). They redid the Guthrie and then the sweat test so all in all the process has taken 12 days which I think is pretty good going for the NHS. We are all devastated and her treatment is to start now because of her weight issues. I do hope that others have better news...

Luckymum · 03/02/2004 09:54

Harrysmum.....So sorry about your dn's diagnosis. Thinking of you and hoping that her family (and you) are getting some support. Its good that her weight loss was taken seriously and you have an early diagnosis.

aloha · 03/02/2004 09:55

I am sorry. That's very sad and upsetting for your family. There is lots that can be done now though, and research is progressing fast, I believe.

maddiemo · 03/02/2004 09:56

So sorry to hear about your dn Harrysmum. I am thinking of you and your family.

fio2 · 03/02/2004 10:14

So sorry to hear that harrysmum but early diagnosis is much better. The treatment for CF noiw is much more effective (much of which was tried out on my sister - the guines pig!) Tell your sister (or in law) to get in touch with the CF Trust they are usually very supportive. They send a social worker/support worker to give counselling and to help with all the benefits to claim. It must be such a shock for the whole family.

Original poster

Joshjunior · 03/02/2004 10:24

Thanks hopey, my only concern is that he has developed eczema and his skin is quite dry and a little red in places. Will this effect the test at all?
Harrysmum - as everyone else has said already, I'm sorry to hear about the positive result but hope the early treatment will get the weight on. Thinking of you and your family.

OP posts:

suedonim · 03/02/2004 13:36

I'm sorry to hear about your niece, HM, that's very upsetting. As Fio says, treatment has improved out of all recognition and I'm sure research will come up with more benefits. This is the link for the Cystic Fibrosis Trust .

hopey · 03/02/2004 18:45

The test will involve strapping electrodes to either an arm or leg, so as long as your ds isn't covered in eczema and it is only in localised places it should be o.k. The current can irritate eczema, so the skin needs to be clear. Don't worry when I say electrodes, he'll just have the two placed close together on either his arm or leg to make him sweat. I hope I've explained things well enough. I don't want to scare you.

Original poster

Joshjunior · 03/02/2004 22:27

Thanks hopey - hopefully they will find a clear area!

OP posts:

maddiemo · 05/02/2004 11:54

How did the test go Joshjunior?
When will the result back?

Original poster

Joshjunior · 05/02/2004 23:06

Thanks for your thoughts Maddiemo. The test went OK he smiled and cooed throughout, wouldn't even of known they were doing anything! I know that the results are available from yesterday afternoon but the consultant has to see them. We have an appointment on Monday but dh is fit to explode and will ring tomorrow. Have a gut feeling it's not good news, not sure why but we'll see. Will post as soon as we know. ds remains a very happy bunny as usual and sat unsupported for 5 seconds today - not bad for 11 weeks! (probably lucky positioning but grandma was impressed!)

OP posts:

maddiemo · 06/02/2004 09:42

Glad to hear he was ok with the test. I remember how stressful the wait was. Will be thinking of you all.

Original poster

Joshjunior · 09/02/2004 18:02

Just to let you know, we had the test results back today and the were negative for CF. As you can imagine we are delighted. Can I say a genuine thank you to all those that have taken the time to post. It really did help to have others to 'chat' to. Thanks.

OP posts:

tamum · 09/02/2004 18:04

Fantastic, joshjunior, I'm so pleased for you.

twiglett · 09/02/2004 18:05

message withdrawn

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