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CF carrier with symptoms?

(480 Posts)
Shineyshoes10 Thu 05-Mar-15 21:41:10

My DT1 is a carrier of cf.

DH is sat in PHDU with DT1 after an asthma attack at school. We only saw the respiratory consultant in clinic on Tuesday. The critical care Dr mentioned that some CF carriers are symptomatic.

He has one gene mutation but a negative sweat test. He does have several symptoms though. He has asthma (although the critical care Dr is wondering whether some of what is put down to asthma are actually cf symptoms), he also has a persistent staph aureus chest infection, multiple sinus infections, GERD and he had a bowel blockage as a baby but that could be due to being prem.

Has anyone got any experience of this?

From my own research you only have cf and symptoms if you have 2 gene mutations but I got the impression from the Dr he thought DT1 needed treating as though he has cf. We will hopefully see the cf consultant on the ward tomorrow.

Tiredstressed Fri 06-Mar-15 00:31:32

I thought that carriers were not symptomatic. I would be very interested in the answer as I am about to undergo testing to determine whether my unborn child has cf or is a carrier. My daughter has cf. I hope your son recovers soon. I can understand the rationale in treating your son in the same way as someone with cf as this may well alleviate his symptoms. If his sweat test was negative, I can't see that he would have cf - I thought this was pretty definitive. Hopefully someone more knowledgeable than me will be along soon.

Shineyshoes10 Fri 06-Mar-15 07:52:31

That was my belief as well. Everyone put his symptoms down to other things up until now. DD1 has cf, not sure I can cope with 2! (or 4- the next question is if he is a cf carrier needing treatment are the other 2 identical triplets who are carriers also going to need treatment?) just heading up to the hospital now so I'm there for ward round. Thankfully PIL offered to look after the other DC.

He is already on nebulisers and antibiotics and we do physio for the asthma/infection so in a way receives part of the treatment already.

I hope your DD is well and the tests show that your unborn child doesn't have cf.

Tiredstressed Fri 06-Mar-15 08:25:17

Thanks Shiney. I hope you get some answers very soon.

Shineyshoes10 Fri 06-Mar-15 17:03:53

The cf consultant is 99% sure he has cf sad and his other gene mutation wasn't known about at the time of the testing. He said in the past 5 years more gene mutations have been added to the list which cause symptoms. He is going to do more genetic testing for all the known mutations, he said there's about 1900!, as as a baby it was only the most common ones (I didn't know this I'm very annoyed about it) and order a repeat sweat test but did say that it is more common than you think to have a negative sweat test but have cf when genetic tests are carried out especially when done on prem babies.

If he is only a carrier some carriers are at a higher risk of asthma, sinusitis, bronchitis and allergies. He will then be treated with some cf treatments but won't need creon or vitamin supplements etc.

In the mean time DT1 is going to be treated as though he has cf and once out of HDU (hopefully tomorrow) will go to the cf ward. They have put a ng tube in because he is so underweight and started IV antibiotics.

He also wants to see DT2 and 3 in clinic because being identical if DT1 has cf they also do.

I am devastated!

How do people cope with multiple DC with cf? How do you prevent cross infection? Especially when 1 cultures pseudomonas and B Cepacia?

Tiredstressed Fri 06-Mar-15 17:17:10

Oh Shiney, I am so sorry to hear that. I don't think you can avoid cross infection in this situation, can you?

It is interesting - my husband (carrier) had terrible asthma when he was young and ended up having to have physio etc. I didn't realise that they would not check all mutations (or the vast majority of them - can they not check this from parent's bloods?).

So sorry flowers

ReindeerBollocks Fri 06-Mar-15 17:28:03

I'm really sorry shineyshoes.

I'm not surprised as your DT1 is very typical of a cf'er and I was going to suggest that it could be that the other gene was unknown.

DT2 &3 will also have cf if they are identical.

However hopefully once they start treatments you will probably find a big improvement in DT1's health.

Cross infection in sibs isn't guaranteed either, which sounds strange but there are siblings in the cf community of differing healths and it tends not to impact on the more well sibling too much.

I hope your DT1 gets better soon. Hopefully once they start creon and vitamins you may find a big different to his weight, and hopefully he won't need the ng tube for long.

Also he may get rapidly better now the ivs are underway. My DC with cf bounces back within a few days, even after a heavy infection.

I am sorry for all of you though, not because having a child with cf is a bad thing, but it is a lot more work, worry and overall stress.

Thinking of you flowers

Tiredstressed Fri 06-Mar-15 17:35:35

Is the cf consultant saying that your DT has got a different mutation to your DD? I cannot see how your DT would have a different mutation?

Shineyshoes10 Fri 06-Mar-15 18:18:05

Apparently they routinely check a panel of the 50 most common ones.

I don't know about the different mutation from DD1, I will add it to the list of questions for tomorrow. Thinking about it I would think they would have the same.

She wasn't diagnosed till she was a teenager because at the local hospital the newborn screening didnt include cf until the year after so I've no experience of little ones with cf.

He does have a lot of symptoms but we assumed a negative sweat test = no cf.

It's good to know about the cross infection, I would have thought if he was going to catch it from DD1 he already would have by now. I had visions of trying to stop contact between all 4!

That's what we're hoping with his weight because he has about 3000 calories a day with the nutritional supplements but just wasn't gaining weight.

Not sure I can cope with 4 DC with cf!

Thanks for the good wishes and flowers.

Reindeer do/did your DCs primary school deal well with cf or are they over/under cautious? DD1s secondary school were rubbish.

I only have experience of the extreme end because by the time DD1 was diagnosed she was very unwell. But I realise a lot live relatively normal lives.

Lucky PIL only live around the corner and they are helping. The other DC are delighted as they spoil them rotten.

On a practical note any tips for trying to distract DT1 from pulling the ng tube out, bribery and distraction aren't working.

Shineyshoes10 Fri 06-Mar-15 19:54:16

Thinking about it more the only way he would have a different mutation would be if DH or I had cf. Is this right? Our genetic testing showed we are both carriers. Totally confused confused

DD1s mutations are df508 and R674X.

The DTs are carriers of df508. Not sure if they were tested for R674X, I assumed so (would hope so!) but now knowing they only tested for the common ones I doubt it.

WastingMyYoungYears Fri 06-Mar-15 20:11:03

I'm confused Shiney, who was born first, DD or the DTs?

WastingMyYoungYears Fri 06-Mar-15 20:12:19

Oh, does DT in this instance indicate triplets rather than twins?

Shineyshoes10 Fri 06-Mar-15 20:16:59

There's DD1(20) DD2(15) who's not a carrier and then DTs(5). They are identical triplet boys.

Sorry for confusing you I think DT refers to both twins and triplets.

Tiredstressed Fri 06-Mar-15 20:19:47

Were they aware of your DD's CF when they tested your DTs? If they knew the mutation combination, I cannot think why they wouldn't test for both.

WastingMyYoungYears Fri 06-Mar-15 20:22:02

Message withdrawn at poster's request.

Shineyshoes10 Fri 06-Mar-15 20:37:40

Yes they were, well we told them as part of the family history. DD1 was diagnosed when I was 19 weeks pregnant so no opportunity for pre natal tests. I would hope they did, I will be disappointed if they didn't.

It was the newborn screening (just the most common types) that picked up that he was a cf carrier then he had a sweat test which was negative so maybe they didn't because it was negative?

Tiredstressed Fri 06-Mar-15 20:46:46

Perhaps, although it would seem remiss of them not have investigated this in the circumstances.

Do your other DT's have any symptoms?

It must be such a shock. Do you have a good cf centre (testing concerns aside)? I was offered counselling to help with my DD's diagnosis and found it really helpful.

Shineyshoes10 Fri 06-Mar-15 20:56:55

Just talked to DH I was forgetting they then had further genetic testing after the negative sweat test because of DD1 so I bet they did test them for the R674X mutation at this point.

The other DTs both have asthma, eczema and allergies but no where near as bad. DT3 did also have a bowel blockage in NICU, we were told at the time it was because they were prem. I would say if they had cf it was only mild.

The cf centre were brilliant for DD1 and the consultant this morning was. The linked adult centre is also good. I'm going to ask about a counsellor I don't know if they have one, we saw a clinical psychologist with DD1 so if they haven't I'll ask to see them.

It's very lonely sat in an isolation cubicle with just DT1 asleep, don't want to go anywhere in case he wakes up.

Tiredstressed Fri 06-Mar-15 21:09:52

I saw a clinical psychologist too - I was sceptical but it was good. The diagnosis knocked me for six. Now I live in fear of something else happening (hence lots of tests for the new one). How long do you think DT will be in? Is he on a course of IV anti bs?
My understanding of genetics is very limited but I am still struggling to see how they can have CF - surely it could only be a combination of the 2 mutations identified. If they were only positive for df508 and the other mutation isn't present, I can't see where the second mutation comes from. Sorry if it is not helpful - I was just thinking about it again.

Shineyshoes10 Fri 06-Mar-15 21:30:45

We found it helpful, it especially helped DD1 come to terms with it, she still sees one now.

He's going to be in for 2 weeks having a course of IV tobramycin. he'll have another sweat test next week and a chest CT scan and bronchoscopy tomorrow.

My understanding is the same as yours one mutation from each carrier parent surely? So all DC with cf could only have those 2 mutations. Why do I also have questions after I've seen the Dr. The nurse is none the wiser and probably wouldn't say anything anyway in case she was wrong.

I know what you mean about the fear, it never really goes you learn to hide it.

Shineyshoes10 Sat 07-Mar-15 11:17:46

After talking to the Dr this morning we are alittle bit clearer. He believes DT1 fits all the clinical symptoms and a sweat test alone should not be used as a diagnostic exclusion criteria. If he had seen DT1 at birth he would have taken it further then.

He could have a different mutation if one of DH/I have cf OR if one of us carries a gene that's classed as varying clinical consequence so we might not have cf but he could, if this is the case it is usually milder, some people don't get all the symptoms and some are pancreatic sufficient.

Lots of these mutations have been discovered since he/we were tested. We've also consented for him to look at our medical files and DT2&3's and he's given us a form for DD1 to sign so he can look at hers as well.

He's going to wait till the blood results for DT1 are back and if they are like he thinks they will be he'll refer us as a family to genetics.

DT1 has just gone in for the bronchoscopy, then he'll go round for a ct scan. He'll spend a few hours back on HDU to make sure he's ok after the GA and then he's going to the cf ward.

I asked about a counsellor and he's going to get 1 to come and see me but it probably won't be until Monday now.

Sorry for the long message.

Shineyshoes10 Sat 07-Mar-15 11:41:21

Forgot to say he was tested for R674X, so relief in a way.

Tiredstressed Sat 07-Mar-15 13:38:18

Oh, I see - that makes sense. They tried to sweat test my DD when she was 2 weeks old but her arms were too small. They only repeated it when she was 10 months old and a bit more meaty but she was treated for cf from the outset. She is pancreatic insufficient so there were clear signs from the start.

At least you are getting some answers and it is good to know that he was tested for that mutation from the outset. I hope the antibiotics are starting to kick in.

Shineyshoes10 Sat 07-Mar-15 17:14:08

Thanks tired it's good that although your DDs sweat test was inconclusive they started treatment.

The DTs were sweat tested at 4 weeks but DT1&3 didn't produce enough sweat so we're retested 6 weeks later and were negative.

Things seem to be moving so fast.

The bronchoscopy showed DT1 has thickened bronchi walls and lots of mucus in his lungs. They've took a biopsy of the wall of the lungs.

The HRCT scan showed he has hyperinflated lungs and thickened bronchi walls. They scanned his sinuses and abdomen as well. He has thickened sinus cavities and a fatty pancreas. I'm not sure of the significance of these the registrar said the consultant would discus it with me once they had the full radiology report.

DT1 is now settled on the cf ward and playing on the wii so the antibiotics seem to be doing their job.

Tiredstressed Sat 07-Mar-15 23:22:22

They are being very thorough, which is good but I understand what you mean about things moving fast. I remember all the appointments when DD was diagnosed - it seemed to be endless when all I wanted to do was try and work out what to do with my baby.
I am glad that he is sounding brighter. Presumably he is in his own room on the ward? I think the cross infection element of the condition is really hard - I feel stressed when I bump into other parents and little ones waiting for their appointment at clinic but at the same time I am desperate to talk to them. I suppose it is better now we have the Internet - there seems to be lots out there.

I hope you get some answers very soon.

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