After the better part of a year, I finally received my results for CF and PCD testing.
The initial brush biopsy for PCD indicated no mucociliary clearance amongst other things. However, they regrew the cilia and decided this was caused by mucus trapping the cilia. I was told they had to retest the staining, but was not told the outcome of this. Overall decision: not PCD.
The CF sweat test was normal, and they have found that I am a carrier of a typically asymptomatic type of mutation (though they didn't tell me the name of this). I have an appointment with the geneticist next week to get a further understanding.
The CF specialist has discharged me, advising that due to negative sweat test and only 1 mutation, there is no CF. In the appointment, I was so thrown by the new decision about PCD (as in my previous appt the conversation had been very different), that I didn't really process the CF information.
My whole reason for being tested was for suspected atypical CF, so I'm a little unclear on why that wasn't explored more -particularly as we are still learning so much more about the different mutations. It leaves me to wonder if the UK is more averse to atypical diagnosis? Is anyone more familiar with this?
Naturally, it isn't a case of 'wanting' something, but rather that whatever is causing me to have these chronic respiratory infections, rhinosinusitis, gastro issues etc. is already there -I just want to understand what it is so that I can manage it.
Any thoughts ahead of my appointment on the 6th would be appreciated, so I can try to utilise my final appointment to advocate, if necessary. If they are typically happy to diagnose someone as atypical, then of course there is nothing to advocate for and I need to look elsewhere for my answers. Many thanks in advance
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Have they had a bronchiectasis specialist look at your ct scan? Frequent and chronic infections are typical of long term asthma having developed bronch alongside it and happens a lot. Your symptoms appear to be far more typical of this common development than a problem caused by an asymptomatic cf gene. PCD could have led to the development of bronchiectasis but they seem to have ruled PCD out. I think that you need to ask them to refer you to a good bronch specialist for their opinion, not a general respiratory consultant. I hope that you get to the bottom of it.
With the caveat that I’m not medically qualified.
I consider myself pretty well-informed when it comes to cf as my teen daughter is at the fairly severe end of the cf disease spectrum, and she also likes to do things slightly off-textbook, just to make life interesting. My understanding is that it’s not so much that the UK is averse to the atypical (sometimes called inconclusive) cf diagnosis, it’s just that it is incredibly hard to establish. That said, those given an atypical diagnosis do usually have two identified disease-causing mutations, it’s just that at least one of the mutations found is associated with a very mild, sometimes single system presentation. As a group, they tend to have next to no (or very mild) symptoms, and may also have a normal level of sweat chloride. However, even when there are two mutations identified, the official diagnostic criteria for cf currently still includes a positive sweat test, meaning sweat chloride levels in excess of 60. People with two mutations and some degree of symptoms will get the atypical diagnosis if their sweat chloride is normal, but in your case, where they’ve only found one mutation (and we’ve identified more than 2000 disease causing cftr mutations at this point), and with normal sweat chloride, they’re highly unlikely to diagnose you: the reality is that there is every chance it’s nothing to do with what is effectively your carrier status. It’s much more likely to be coincidence rather than causative. It’s worth keeping in mind that one in 25 people in the UK is a carrier of a faulty cf gene, so it’s not actually that rare to be a carrier. We do also now know that cftr dysfunction effects people with asthma, copd, and bronchiectasis, not just cf, and there is a working theory that all obstructive lung disease is a spectrum of this dysfunction not necessarily tied to having a genetic mutation. But, that said, there are higher than average numbers of carriers within the respiratory disease cohort, and particularly patients with bronchiectasis.
On that basis, and as Littlepom says, I’d also say it’s much more likely that you have a condition like bronchiectasis than cf, even atypical cf. Assuming you’ve had one done, I would be asking for a proper breakdown of any Ct results so that you understand what features - if any - of lung disease have been found. I would ask them to tell you which cftr mutation they’ve identified you as having. I would also be clarifying the PCD results: although many adult cf teams are familiar with PCD, it’s actually a highly specialised area. I believe I’m right in saying there are only 4 specialist centres in the UK, and only 3 that can provide diagnosis, so if you haven’t been seen by one of those, then it may be worth asking for a referral. The centres are Central England (Leicester and Birmingham), the Royal Brompton in London, and Southampton General. The reason they were set up is to establish better diagnostic and care standards, generally, as managing it is quite different to managing cf in some regards.
PCD results are from a specialised team (1 of the 3 above), though I was under the CF clinic so no opportunity to discuss results with them.
RE: bronchiectasis -I have had CT reviewed by senior clinician in respiratory medicine. Whilst not a bronch specialist, she was able to diagnose a hiatus hernia that several prior radiologists missed, so I feel fairly confident with that.
I feel somewhat reassured from what you've advised; I will ask the geneticist on Tuesday what the mutation is and discuss further. I think I must have misread the medical journal from Canada about Atypical CF and one mutation RE: your advice above. If this is the case, it looks like the search continues!
I at least am having some immunology bloods done, so that's a start. My hope is that I haven't been discharged from Respiratory Medicine, as my last appointment indicated that I would remain under the hospital as the initial PCD biopsy indicated positive (for lack of better phrasing). At least as we look ahead towards the end of Summer I will have support of some form, unlike other years when the infections flare Positives!
Thanks again and I will drop a line after Tuesday with an update x
I’ll just add that at the moment, the official diagnostic criteria do not actually require two mutations or even an abnormal sweat test and people can be diagnosed — rarely, but they can — in the face of a normal sweat test with no detected mutations. So Person99 shouldn’t be discharged solely because they have normal sweat chloride and the gene testing they’ve so far had hasn’t thrown up anything of note.
As a different side note though, a known-benign or likely-benign mutation isn’t counted when they say ‘one mutation + abnormal sweat chloride’ or ‘one mutation + normal sweat chloride’, that refers to one known- or likely-pathogenic mutation or, sometimes, an ‘unknown’ mutation. These can be found on the ClinVar database, CFTR2, etc. but there are also numerous novel variants that haven’t been researched enough to determine whether they may or may not impact CFTR function.
Hi, I was born with PCD and my hearts on wrong side etc, as have lot of people with PCD. Went to Leicester, where confirmed, at age 84 that yes did have PCD. If it is PCD definitely need to see specialist consultant. Know Birmingham were setting up specialist unit to do tests, also have consultant Dr Sullivan who understands it. Good luck, Jean
I just got a letter with the detail on. The genetics appt didn't go as expected due to other reasons, but I'm expecting a letter from them in due course. I should also be receiving a more detailed breakdown from the PCD, but apparently it will take a month?
Anywho, the gene is c.3409A>G and seems to be benign, so far from the research. I've been advised that I'm not currently classed as a carrier due to this. Good news The bad news is that Respiratory Medicine had already discharged me and are now dragging their feet about looking into things, even though we had a whole investigative plan in place for when the results came back (assuming they were negative) -but hey ho.
I noticed that some of the testing has been around Connective Tissue Disease, including Sjogren's Syndrome which has been interesting. I have EDS and this is now the 3rd time this has popped up, of its own accord -3rd being with my Salivary Gland Calculi that I currently have. I've mentioned to Respiratory that if there's another line of investigation that they think is more appropriate then I am very open to hearing it, but essentially we are now entering the period where I have reoccurring infections and I am back to 0 support and no treatment plan. Fingers crossed I'll get some movement.
Thanks for the advice and support, folks. Once I get my PCD info, I'll drop another update as it may be helpful for others. I know this site has been a very helpful resource in my journey. Thanks again
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