Now ye're talking - to someone with Cystic Fibrosis

cbyrd wrote: »

It's great to get an insight to this disease, all the questions you'd love to ask but it'd be rude to. My son has pulmonary hypertension and aspirates so he's peg fed, and his jack and Jill nurse works in the CF unit in Crumlin so I have a tiny bit of experience with lung issues. Listening to her stories can be heartbreaking.
One thing that I did come across when he was in icu last year was they're now giving children with CF high dose vitamin D, something I have used for a few years as allergy control (from an allergy specialist in Beaumont) have you come across this or is it new (can't remember if the Prof said treating or trialling)
What's been the hardest treatment you've endured.?

Hey there Cbyrd, I know you definitely have a lot of experience with lung problems yourself as you're caring for your son.

Thank you for your input and your questions

Actually most people with CF, about 85%, are born with a pancreas that doesn't produce the enzymes needed to absorb fat. So they need to take enzymes with their food and even then a lot of people with CF are underweight and need to eat a lot of calories a day. Some peg feed overnight as well. I'm in the 15% that still has a functioning pancreas, though I'm tested every couple of years to see if it is still working, so I have no problems putting on weight and I'm a bit of a heifer, which is pretty damn unusual in the CF world :pac:

I didn't know about taking vitamin D for allergy purposes, that's interesting, I must look it up. Since I was diagnosed sixteen years ago I've been on this tablet called aquadek which has vitamins A,D,E and K in it (all fat soluble vitamins due to pancreas problems), even though my pancreas still works it may not be fully functional so they give me this tablet as my vitamin levels tend to be low sometimes.

I also take calcichew D3forte which has calcium and vitamin D in it. These are maintenance doses, the last time my levels were checked they were low so I'm going on high dose vitamin D for a few weeks. I think they've been doing this for a good while now, at least the last sixteen years anyway. My dietician told me that everyone in Ireland should take vitamin D during the winter anyway as there isn't a sufficient amount of sunlight to have adequate levels and she said they are going to roll it out for children in Ireland at some stage in the future.

Your last question is an interesting one, and I'm having to think about it. I've had two portacaths placed in my chest and one removed over the years, not pleasant but not the worst. I've had a good few operations on my nose and I think the one that was most painful was when I had a deviated septum corrected and I had tissue removed. I had a bronchoscopy once which wasn't that pleasant, they insert a tube into your lungs while you're sedated but awake and they take samples and they also flush out your lungs which feels a bit odd and like you're drowning I suppose nothing stands out as horrifically painful, more like uncomfortable and sore and not pleasant but not screaming in pain sort of stuff.

I think what can be the toughest is that there's no break from CF, and I'm sure you know what this is like yourself, there's no day off from medication or treatment, you can't take a holiday from it. It's a lot of treatment to do every day and I don't always do all of it, I do struggle with that. Another thing which isn't much fun is having lines placed in your arms for IVs, either cannulas or PICC lines, it's fine at first but your veins get worn out after a while and it becomes harder and harder to get blood or get a line in for IVs. Thankfully I have a portacath now so my veins get a break

Mango Joe wrote: »

Hi Succubus - Thanks for doing the AMA, I must say you come across so well, your attitude is great and I wish you and your wife all the best for the future in every respect.

I was wondering if there's any fundraising initiatives supporting those with CF or research projects you're aware of and could bring our attention to? I'd be happy to set up a standing order etc for some monthly amount I could manage if it was hitting a good target.

Also there was a drug a few years back that promised to really help a certain percentage of people with CF - Are there any signs of significant help on the way in terms of new drugs or treatment options? Are our politicians stepping up to the task of supporting people living with CF?

Thanks again

Hi there Mango Joe, I'm glad to be able to do the AMA and that people are interested. Thank you very much for saying that I come across well, I'm conscious of not wanting to sound too negative or self-pitying because I have a lot of good things in my life too. I suppose I feel like everyone has their own issues in their lives, and I'm very lucky to have an extremely supportive wife, and although my parents weren't always supportive, they are very supportive now. I even still have two grandads alive and kicking, one 90 and the other 89, and nobody else has any major health problems in my family so I am grateful for that too Thank you so much for your kind wishes too, everyone has been so lovely and supportive on this thread.

Here is a link to the donation information on the CF Ireland website: https://www.cfireland.ie/support-our-work

There is also information about fundraising events that are coming up or information about how to hold your own event. I'm going to volunteer for the 65 roses day which is the national flag day for CF, it's on the 12th of April. It's called 65 roses because that's how young children with CF learn how to say Cystic Fibrosis Basically you go to shopping centres and other areas and you sell purple roses to raise money for CF services and supports. I don't know of any trials you can directly donate to but I know that the money the CF association raises goes towards helping people with CF and their families and also goes towards improving facilities which has a direct impact on life expectancy.

For example the build4life campaign raised enough money to open a new respiratory ward in CUH in 2015 that has a number of beds ring fenced for CF patients, so we get priority if we need to be admitted. This was so important because people with CF used to have to share rooms with other people who had respiratory conditions or CF and there was a risk of cross infection every time you were admitted for treatment. In fact the life expectancy in Ireland used to be worse than in Northern Ireland (and the worst in the western world) and it was completely down to a lack of isolated facilities in Ireland. So the money really does make a difference. Any donation at all would be greatly appreciated by the association and thank you so much for your offer, it's very kind

The drug you're talking about is called Kalydeco, and it's made a significant difference in the lives of people with CF who have the gene for it. Some people have gained up to 10% more lung function and others have put on badly needed weight, which can help the body fight off infection. Some don't need to take as many enzymes with their food and some don't have as many exacerbations. It's the first drug to actually target the underlying cause of CF and not just the symptoms.

Unfortunately only 4% of people with CF can benefit from this treatment however another drug came out called Orkambi which treats the most severe gene that's so common in Ireland. It hasn't been as successful as Kalydeco but people have also gained lung function, not needed as many IV antibiotics, and gained some weight. I have one severe gene but one other rare gene that's responsible for me still having a working pancreas and being diagnosed later. It means though that I can't have Orkambi because you need to have two of the severe genes in order for it to work. I'm so delighted for the other people with CF who have benefitted so much from these drugs and I'm sure they'll have something for people with my genes at some stage, I always have to be awkward

For a long time the situation with CF facilities in Ireland was appalling and people were dying as a result of it. Politicians did very little and until there was a campaign by people with CF themselves nothing really happened. However this has thankfully all changed, now there is a dedicated CF ward in St Vincent's Hospital in Dublin that has 20 beds and there's the Respiratory ward in Cork with ring fenced beds for CF patients.

I think improvements have also been made in the other CF clinics in the country but these are the two major adult units, along with Beaumont hospital in Dublin, and the two I have personal experience of.

To be fair to the Irish government, there are still CF patients in the UK hoping to have Orkambi approved because the drugs are so expensive that the NHS is refusing to do so except on compassionate grounds (so if someone is at end stage CF already). It's terrible to see people deteriorating when you know that there is a drug available that could help them. The Irish government has approved both drugs so people with CF are in a fortunate position in Ireland now.

Martina1991 wrote: »

Hi Succubus. I think you’re great for doing the AMA. There’s so much the general population don’t know about CF. I don’t know anyone personally that has it, but my undergrad project for college was about CF, particularly the use of the sweat test on adults. The sweat test is usually only performed on kids but I found that adults with elevated sweat test results can actually indicate they have a mild form of CF or be a carrier of Delta F508. Did you have to have a sweat test when you were diagnosed?

With regards fertility, I apologise if this is a personal question. Did you or your parents ever have genetic counselling about passing on the CF gene? Do you think this would be a good idea in an attempt to decrease the incidence of people passing on the CF gene in Ireland?

Hi there Martina, thank you very much, it's been a pleasure to do the AMA



Interesting questions there!

I had a CT scan when I was thirteen because the asthma treatments alone weren't working and it showed bronchiectasis (lung damage) at the base of my lungs. 50% of people who have bronchiectasis also have CF so my Respiratory consultant ordered a sweat test for me. My Respiratory consultant also happened to be a CF consultant and he was convinced I had asthma before the CT scan :pac:

So there was a mistake made about a year prior to my diagnosis, I was seeing an ENT (ear, nose and throat consultant) for a few years because it was suspected that my cough was caused by a drip down to my chest as I had a lot of sinus problems. So my ENT arranged for me to have a sweat test, but it never happened and we don't know why. We were told that the test was negative and I was having so many different tests at the time that we didn't think anything of it.

However, when I went to have the sweat test that my Respiratory consultant ordered, myself and my mother realised I'd never had this test before as they put electrodes on your arm and they wrap your arm in clingfilm so it isn't really a test you'd forget! So my sweat test was positive for CF but only just, a negative result is less than 40, an inconclusive result is 40-60 and a positive result is over 60. My result was 62, but a lot of people with CF would be getting results in the hundreds. In fact I was lucky that the sweat test came back positive so I could get the diagnosis and the proper treatment because a lot of people with my rare gene fail the sweat test and continue to go undiagnosed and without proper treatment. I had a blood test afterwards which identified my two genes.

My parents never had genetic counselling because I was born in 1988 and the first CF genes were only discovered in 1989. My parents had no idea that they were carriers. After I was diagnosed my older sister was tested and is a carrier of Delta F508. I definitely think that genetic counselling is necessary to explain to people their chances of conceiving a child with CF.

Unfortunately I don't think it's usually offered unless you have a relation with CF that you know of. Basically how it works is, one in 19 people in Ireland carry one CF gene, so they don't have CF themselves (you need to have 2 CF genes to have CF), but they carry it. If two carriers get together and have a child, each child they have has a 1 in 4 chance of having CF. So I had a 25% chance of having it and so did my sister.

My mother and my father both passed on one CF gene each to me, so I got two CF genes and that's how you end up with CF. One of my parents passed on a CF gene to my sister but the other didn't so she is a carrier but doesn't have the illness. I think there should be more awareness of the high carrier rate in Ireland and the consequences of that.

However, people still go on to have children regardless. My parents told their siblings about their chances of being carriers but some still went on to have children without getting themselves tested first. Some parents who have a child with CF go on to have more children even though they know of the 1 in 4 risk per pregnancy. So I think genetic counselling does help to reduce the number of CF pregnancies but it doesn't always have an impact.

Martina1991 wrote: »

Yes the reference ranges you quoted there (>40, 40-60, <60) were established in young children so they aren't really suitable for teenagers or adults. It also seems that those with more severe CF will have a higher sweat test result so those with milder forms slip through the cracks.

I guess if more people were aware that CF is genetic and how the disease manifests, people might reconsider their family planning options and how it could affect their lives. The same could be said about any genetic condition of course, but with CF being so prevalent in Ireland, the more people that know about CF the better.

Which is why this is a great AMA!

Oh that's interesting, I didn't know that the reference ranges don't apply to teenagers or adults. Do you know what ranges apply to teenagers, out of curiosity? That's exactly it, a lot of people with severe CF will have results in the 100s, whereas someone with a milder form may not have a positive result and gets missed. On older people they are unsure about they often do a blood test to check for CF genes rather than the sweat test for this reason.

I definitely think people should be made aware of the high carrier status in Ireland because it has repercussions. However, having children with CF can be a bit of a controversial topic in the CF community from what I've seen on forums. Some people with CF don't like the idea that with modern techniques to screen for CF embryos, they may not have been born if such techniques were around before they were conceived.

Some acknowledge it's not an easy life but they'd prefer to be alive with CF rather than not exist at all. Some parents of children with CF go on to have more children, risking the chance of them having CF, because they think that they'll love the child just the same and they know how to look after them.

It's a sensitive topic because personally I wouldn't take the gamble, if I became pregnant by someone who wasn't a carrier then the child wouldn't have CF, but if the person was a carrier my child would have a high chance of having CF, I think it's possibly 50% but I might be wrong there.

For me, I prefer a life with CF to none at all but I don't think I could handle the guilt of knowingly bringing a child with CF into the world when there are now ways to prevent that from happening, but that's my own decision and it's not for me to decide what others should do.

I mean I nearly have a heart attack when my cat sneezes more than a couple of times, and he's rushed off to the vet, I think I'd be in a perpetual state of fear if I had a child with an illness and I really admire people who manage to cope with it.

Harry Handsome Bulldog wrote: »

I am curious, if both parents were a carrier of the deltaf508 gene, would that be one gene they’d pass on to the child or could the two genes be the same type? I hope that makes sense, what I’m trying to say

Basically each person has these particular two genes, and they are either both CF genes (so you have CF), or one is a CF gene and one isn't so you are a carrier, or both of your genes are CF free.

So in the case of two parents with a Delta F508 gene, if both of them passed on their Delta F508 gene, their child would have two Delta F508 genes, or as it's known, they would be double delta F508. These genes are the most common genes found in Ireland, and I think about 70% of people with CF in the world have at least one of these genes.

CF is supposed to be most severe if you have two of these genes however it can vary, I've heard of people with double delta who are healthier than me, but most would either be as ill as me or more ill.

Even two siblings with the exact same CF genes can have very different experiences. Sometimes one sibling dies quite young and the other doesn't.

There are theories that there are other genes in play that can possibly modify how severe or mild your CF may be. My rare gene is typically considered ''mild'' but I use that word with reluctance because my condition right now is moderate to severe and it's a progressive disease. Really no two people with CF are exactly alike, it's so varied.

Now I hope that makes sense because it can be kind of difficult to explain, if you want further clarification just ask

bolgbui41 wrote: »

Hi Succubus,

Thanks for answering all these questions in so much detail. It's a great insight into CF and how you cope with it.

My first question is kind of picking up on something you said in earlier responses - about how it's tough knowing that you can never have a break from disease/have a holiday from it. I know quite a lot of people with chronic physical illnesses (myself and my gastrointestinal diseases included) also develop mental health problems like anxiety and depression, so I was wondering how/if you deal with the psychological implications of CF. Do you have any sort of counsellor or anything on your medical team? Or have you any opinion on how the HSE should or could be dealing with the mental health side affects of serious illnesses?

Secondly, can you say anything about how your parents deal with the CF? I know I sometimes forget how hard it is for my parents to have a sick child, and have a tendency to lash out at them (and immediately regret it) when I feel particularly bad. Do they have any support themselves? How engaged are they with your medical care?

Hi there Bolgbui,

I'm glad that you don't think it's too much detail! Thanks for your questions too I'm very sorry to hear that you also have a physical illness to deal with, I hope you are as well as you can be, it is tough when it's chronic.

Well, truth be told, I've struggled with mental illness for a very long time and it is partially to do with CF but not entirely. I suppose my physical illness really started to have an impact when I was eleven but my mental health problems began when I was about ten. So, by the time I was diagnosed with CF I was actually already suicidal and in a bad place, I didn't even care about CF really from a life expectancy point of view because I didn't want to live. The diagnosis didn't help of course and I think it tipped me over the edge, I had a breakdown when I was fifteen due to anxiety and depression and it took me a couple of years to recover.

I did recover and my physical health calmed down until I was about nineteen, then CF really started to kick in and cause me more trouble but I was better able to handle it mentally. In the last couple of years my mental health dipped a lot and I was diagnosed with Borderline Personality Disorder a few months ago, which is causing anxiety and depression. The last time I was this depressed I wasn't as physically ill so I could focus more on my mental health recovery but this time I can't just ignore my CF and it is having an impact. My mental health started to dip when I wasn't physically well enough to work anymore but I think that if I could improve my mental health I could possibly work part time, so they are I suppose both contributing to my situation.

Having said that though, like you said, depression and anxiety are common in people with chronic illnesses and 1 in 3 people with CF suffer from anxiety. When I lived in Dublin there was a dedicated CF psychologist who you could talk to when I was in hospital or when I came to the clinic, it's brilliant that such a service is available. They are trying to get the same sort of service in Cork but it hasn't happened yet. However, my CF team have been brilliant and they admitted me for IV antibiotics but also so I could see a psychiatrist right away last September because I was in a bad way. Now I have started a year long weekly course of therapy to help with the BPD, depression and anxiety and had my antidepressants increased.

It was set up so quickly and it's all on the public system, really it has been brilliant. I was living in the UK until September but came home because it felt like I was getting worse and worse mentally and nobody was listening. In the UK I was seeing a CF psychologist but she could only offer me eight sessions of CBT and that was it. Even though my CF team have been so good, there's still a lot of misconceptions about mental illness. Like last week I had an appointment at the CF clinic and I told one of my CF nurses that I think I've turned a corner and things seem to be improving for me mentally, more good days than bad. However, she then asked me why I wasn't doing my physiotherapy, even though I am taking most of my medication and I am trying my best. I had a suicide attempt a month ago which I now regret but that she's aware of, it's the second one in the last few months. I am really struggling to do all of my treatment and instead of her understanding that, she asked me was it laziness or could I just not be bothered to do my physiotherapy. I was trying to explain to her that it's difficult to find the motivation to do your treatment when you don't really care whether you live or die, but she didn't seem to really get it and I just came away feeling worse about myself for being lazy.

As for my parents, well to be honest they didn't handle the diagnosis in the best way, in fact it was treated as if it hadn't happened and we all went on with life as normal. I remember my mother waking me in the middle of the night to angrily give me some cough bottle before I was diagnosed, as I kept them awake for about two years with my coughing at night and I just remember her being annoyed with me whenever she came in. They didn't do any research or try to find out anything about CF and I struggled to do my treatments because of my mental health problems and because I wasn't used to this sudden treatment regime but instead of being supportive they were angry with me for not doing my treatment, as if I was doing it to spite them when really I just couldn't cope.

To be fair to them, I guess they couldn't cope with suddenly finding out I had CF and they desperately wanted to believe that I was mild and I'd be ok so they just continued on. My mother has said some very hurtful things to me over the years without realising it, such as she isn't sure if she would have aborted me if she knew I had CF, and she often talks about CF being a burden on her and my dad, and on my wife. I think that's why I've never thought ''why me'' when it comes to CF, because I'd hear my parents arguing with my sister about who would have to take me to the CF clinic when I was a teenager because nobody wanted to do it. If I got ill it was my fault for not doing enough treatment or not wrapping up well enough. I've always felt like a burden or a hindrance. I'm getting help with feeling like that now though and I'm hoping to change that.

To be fair to my parents, they are much better now, my mother has had therapy herself and we had family therapy when I was a teenager, recently I had to tell her that she has to stop referring to me as a burden or a strain and she's realised what that sounds like and she's really making an effort not to say things like that. I'm living at home with them at the moment and they honestly couldn't do enough to help me now, they are always fussing and helping me as much as they can. I think they feel guilty for their past behaviour and they are really doing their very best now. I am really very grateful to have them.My parents didn't get any support when I was diagnosed and they should have, we all should have, but nothing was offered and they didn't think to ask. I think it's tough for them to see me ill but they try not to show that side to me and my mother always tries to be positive. It can still be difficult for me because if I cough at night now I'm still wondering if I'm waking them and are they annoyed with me.

Before I moved back home last September, I was living in the UK like I said and before that even when I lived in Cork with my partner, my parents hadn't been engaged with my CF care since I moved out of home at the age of 21. My mother used to help me make up my IV antibiotics when I lived at home but it was always a chore for her that she hated doing and when I moved out my partner started to help me and to help me get my prescriptions and get to the hospital and things like that. My partner is so very supportive and never ever makes me feel like an inconvenience

So, when I moved home in September my parents didn't really have a clue what medication I was on or what treatment I was doing. Now though my mother is totally up to speed and she helps me organise my medication for the week and she picks up my prescriptions from the GP and my medication from the pharmacy, or my dad does. They also bring me to my appointments at the CF clinic (I'm struggling with agoraphobia at the moment so it's hard to take public transport and I can't drive). They are now very much involved in my care, I still worry that they resent it and they resent me but I'm trying to trust that they don't feel like that anymore

Tell me how wrote: »

This answer is one of the best single post answers I have read in any AMA.
It is literally a 1500 word book. Parts of it brought tears to my eye.

I'd like to echo those that have thanked you for doing this and praised your courage.

Is your partner still in the UK? Do ye get to see each other much?

Thank you very much Tell Me How, I'm really delighted to hear that. I wasn't sure if I was oversharing or indulging in a bit of self-pity. It's really moving to know that you felt that way reading it.

Yes, my partner is still in the UK. We moved over together last January as she was offered an excellent job and I thought maybe all I needed was a fresh start to get me out of the hole I'd crawled into. Unfortunately I was more isolated than ever and went downhill. It was struggle trying to get an NHS number sorted out and join a new CF team, and the hospital I was attending took a bus and two trains to get there if my wife couldn't bring me (it was only a half an hour drive away but awkward to get to on public transport). Of course I felt guilt at being too useless to learn how to drive and being a burden on her. I had to navigate a new health system which had its own way of doing things and let's just say wasn't as relaxed as the Irish system which gives you a bit more leeway :pac: For example, my portacath has to be flushed every six weeks so I tried to make an appointment with the CF clinic in the UK but they couldn't make an appointment with me on the system unless I had an NHS number and I was waiting for it to come through. I ended up having to go back to Ireland to get it flushed at my Cork clinic.

If you go to the GP there it's free which is brilliant for people but you are only given a ten minute slot and only one ''issue'' is dealt with at a time and some of the medication I get here wasn't available on the NHS so I had to get a substitute or go without. My lung function dropped to 46% and when I came back to Ireland and it was partially because they'd been giving me half the dose of one of the IV antibiotics that I take for MRSA. It was based on weight and I was one kilo off needing the double level so they didn't give me what I usually get in Ireland. It was that kind of pedantic stuff. I got the full dose in September when I came back home and my lung function shot back up into the 50s. All in all it was just a lot of upheaval and readjusting and I don't think I was in the right frame of mind for it. I mean there is so much to see and do there and I felt guilty wasting my time sitting around inside. I downloaded meet up but I was too embarrassed to go because I felt like I was totally useless because I wasn't working and people would ask me what I do, and I'd try to diet but end up having a binge as I was home alone all day, and I'd tell myself maybe I'd volunteer or get a part time job once I lost weight and so it became a vicious cycle of trying to do things and not knowing where to start. I took a knitting lesson, I tried to bake, but I was just going through the motions and my physical health was worsening too which made it harder to do things. I didn't want to go out and have people stare at me as I cough, my breathing would get worse and my heart rate would go up, it became a struggle to leave the house at all on my own. Some of it was just bad luck too, like my port flipped over and couldn't be used and it was looking like it would need to be replaced so I was back and forth to the hospital about it (thankfully it weirdly seems to have flipped back ) and my wife was very stressed in her new job. I felt like a burden on her as I had no one else to help me and she had so much going on with work it wasn't fair on her. Most days I didn't go out unless I had a hospital appointment and spent all of my time alone.

A fresh start worked before when I moved to Dublin, those years weren't the best for my health as I was in hospital a lot but they were definitely the best for me mentally. I was in a new place making new friends and in a new relationship, not in Cork where everyone knew me as ''crazy'' Succubus who got drunk and did self-destructive things and just generally seemed a bit unhinged. I moved in with my partner and I went to UCD when I was 22 which is something I never thought I'd manage to do, mentally or physically, I missed a lot of secondary school due to mental and physical problems so I didn't have high expectations for my leaving cert but I actually didn't do too badly.

So, for the time being my partner is still in the UK and our plan is that I will go back to the UK when my therapy finishes until she feels like she has enough experience in her job to be in a good position to get the same kind of job in Ireland. She'd like to have two years of experience before she comes back so I may not need to move back to the UK at all depending on how long the therapy takes. It was always our plan to come back to Ireland eventually. We'd like to move back up to Dublin and maybe buy a little house outside of it, possibly in one of the more affordable commuter areas. That's what I try to hold onto, that one day I'll live in Dublin again where I have some very good friends and that hopefully I'll either work part time or volunteer or do courses to keep me busy, to do something with myself and my life. To contribute, to not be useless or worthless. I don't want my partner to have all of the financial strain on her, it's something I feel guilty about, as well as her having to do so much for me when I'm ill and even helping with prescriptions and things. Well now I'm my parents' burden again :pac:

I miss my partner very much (sorry, I switch from wife/partner because we had a civil partnership so I use either) and she misses me too. In some ways I think it's more difficult for her because she's on her own in the UK and she doesn't know that many people, she has our cat of course who I miss very much too We'll see how things go, if she feels very lonely or if we can't stand being apart she might come back in six months or so. We do try to see each other once a month and we call/text every day.

TL;DR: Yes she's still in England and we see each other once a month

Bobtheman wrote: »

I think with the more mixed population last 20 years the rate of Cf will decline? Correct?

I'd imagine so. I mean the more the gene pool expands then the fewer carriers we'll have and therefore there will be fewer people born with CF.