Tim Blowfield
Forum Replies Created
-
Such is Trikafta. Sorry to hear of such a bad reaction. But it does show that TK and CF affects NOT Just the lungs nor just the organs with mucous membranes. The depression in this case is obviously the result of the electrolyte changes within the brain cells. These will have reduced as the CFTR Chloride channel improved leading to lower intracellular Chloride and lower balancing cations, Na, K etc. Has she been followed up by a Psychiatrist? What of other organs? heart and muscles? Adrenals? Hypokalemia?
-
My wife was diagnosed aged 67. Is now 82. We suspected CT for nearly 10 years before that as the cause of her episodes of ‘Asthma and shortness of breath. Also severe bowell disease. But when asked Drs would universally reply ‘not possible! You would be dead by now.” Even after diagnosis many dismissed CF as a mis-diagnosis. Recent taking Ivacaftor has been beneficial not just on breathing but on maost of the co=morbidities – Adrenal function and hypokalaemia, Cardiomyopathy, Hyperparathyroidism etc. I suspect that it is also benefiting her vasculitis that has almost caused her to lose a leg from Femoral Artery blockage. We look forward to trying Trikafta when available to her probably about next July. The PBAC is considering it at their March meeting to extend it to the wider range of mutations that it accepted for Ivacaftor at its Nov 2023 meeting. Was put on the PBS list last june.
-
Great to hear your story, Robert-lane. What else has changed/improved with Trikafta?
What has been reported/documented? Sadly Vertex and many CF Physicians appear to think pwCF are just lungs. No other organs in the body are important. You had year of allergies and infertility. Many have a range of ‘co-morbidities’ – most of which, if not all, caused by the faulty Chloride transport.
-
The Alfred Hospital is a large hospital in Melbourne Australia which hosts one of the 2 Adult CF Centres in Victoria, Australia. The other is at Monash Hospital. Children are seen at Monash and also The Children’s Hospital in Flemington. Ali 4 are excellent centres. All do have a psychiatrist on staff.
-
Jeanne asked: “what does compound heterozygous mean?” It refers to there being different mutations on each chromosome, in my wife’s case G542X on one and R75Q on the other. G542X is a class 1 nonsense mutation that results in no effective CFTR protein. R75Q does produce some CFTR but it is less effective than normal CFTR. For that reason her symptoms are less severe than had she had G542X on both chromosomes. Such that some classify R75Q as not causing CF – but the signs and symptoms are there. It also appears to cause many co-morbidities that may or may not be seen with some of the more common mutations.
-
The study, “Assessing the impact of elexacaftor/tezacaftor/ivacaftor on anxiety & depression symptom scores in adults with Cystic Fibrosis,” was published in the Journal of Cystic Fibrosis. This paper is interesting and supports the need for further research. It does support the thesis that in CF the Faulty Chloride channel may be affecting more than just mucous thickness and mucous membranes. There is good reason for depression and anxiety in pwCF simply from the stress and trauma of suffering from CF but abnormal intracellular electrolytes (see my previous post) may also be a significant factor. More research is needed and I thank the authors of this study for their work.
-
Hi William. I would like to see more research into the co-morbidities seen in pwCF. Into why pwCF get so many and why. Research into what the faulty CFTR is doing to the electrolytes within the body’s cells as I suspect abnormal electrolyte levels within cells may be the cause of many co-morbidities. I suspect Tricafta (TK) may be normalizing the intracellular electrolytes and in doing so causing apparent ‘side effects’. Headaches: appear similar to those seen with ‘salt poisoning’. If the faulty CFTR channel is causing intracellular Chloride levels to be high then balancing cations (one of which is Sodium) will be high. If TK causes an improved outflow of Chloride we can expect intracellular Chloride to lower and balancing cations to lower causing a reduction in intracellular salt. In other syndromes such as rapid changes in salt intake, reductions can produce quite severe neurological symptoms (headaches, twitching and convulsions, even death. Adrenal issues and hypokalemia are common in pwCF and probably result from abnormal intracellular electrolytes esp. Sodium & Potassium. High intracellular Calcium in the Parathyroids may contribute to the high levels of Osteoporosis seen in pwCF.
-
My wife was diagnosed in 2009 aged 67 after years of bowel and respiratory problems. As a child & teenager was diagnosed as having bronchitis and constipation and learnt that riding her bike vigorously enabled her to expel mucous that was causing her cough. In her 20’s and 30’s had 2 episodes where she did not tolerate living at altitudes of 7000 – 7500 feet. From aged 36 my bowel deteriorated and increasingly produced a foul-smelling irritant faeces and resulted in its total removal at aged 60 leaving her with an ileostomy. Meanwhile she had numerous episodes of difficult breathing that were diagnosed as asthma. In the 1970 her nephew was found to have CF and we were becoming suspicious. When asked ‘Could it be CF?’ we got the pat answer “No. You would be dead by now”. In 2009 she was referred to a respiratory physician who responded differently “possible – easy enough to test” and so testing began taking the next 6 months. The results were that she was compound heterozygous with one Class 1 mutation (G542X) on one chromosome and a different mutation on the other (R75Q). But all was not concluded then as on the CFTR2 database R75Q was listed as not causing CF (still isn’t). But on a checklist of 25 signs and symptoms of CF she had 20. Creon improved her digestion and just this last month Ivacaftor has improved her health (breathing and many of her co-morbidities – heart failure (cardiomyopathy & atrial fibrillation), hyperparathyroidism, Adrenal failure and hypokalemia, Sjogren’s, and we hope vasculitis, etc.). It is clear to us that R75Q does cause CF – just not as severe as some other mutations, deterioration takes longer and it has caused many co-morbidities (maybe ones that pwCF with more severe mutations do not have time to develop).
-
My wife definitely has – from some hospitalizations that did not go well. And COVID did not help. She was helped revently by a good talk with the Psychologist on the CF team at the Alfred.
-
Multiple diagnoses are common in CF. Asthma is a diagnosis that simply means ‘difficult breathing’ and has many causes of which CF is one. Every pwCF has difficult breathing to some degree. But pwCF do have a plethora of co-morbidities – oft related to the thick mucous in the lungs, resp tract, bowel, bile ducts, uterus, and other organs lined with mucous membranes. But other organs that do not have mucous membranes may also be affected. Heart disease has long been reported in babies and a 180paper reported it in older pwCF. Adrenal failure with Addisson’s Disease and Hypokalemia, vasculitis, hyperparathyroidism have all been reported and are probably caused by abnormal electrolytes within the cells caused by the faulty Chloride transport.
-
Hi JP, Yes TK is a gamechanger and we don’t know all we need about it. A lower dose is adequate in some people and reduces side effects. Side effects are not well understood – many seem that it is doing its job too well. Damage in the lungs has been progressing in most pwCF for years and some anti-inflams may be warranted. The new Phage therapy is exciting (But it is not new – phage therapy has been round since the ’50’s – the East Germans made good progress post WWII). Do keep talking to your CF Physicians and do not get toooooo discouraged.
-
Hi Kay,
my wife attends the CF Clinic in the Alfred Hospital in Melbourne. She was found to have G542X and R75Q when her gene was sequenced by the Canterbury, NZ lab in 2009. Her sweat test was equivocal but her list of symptoms were 20 of 25 for CF. I would reply to your Dr who said it is not worth finding your other mutation “Bulldust! It might be rare BUT it could be one of the 180 variants that Vertex has shown should respond to Ivacaftor, Trikafta etc. ” If it is then being on TK may be the best treatment for you. You may have some unpleasant symptoms at first as your body adjusts but in most those symptoms peter out. Go fot it!
-
Unfortunately, it seems that still far to many of our CF Experts are experts in lungs only, appearing to be in denial that any other organs than mucous membranes are affected by the faulty CFTR protein and Chloride channel. Except they do recognize that sweat glands are affected. Even the registries fail to record the extent of CF co-morbidities, most of which do appear to be CF caused. And Vertex; ……….. enough said.
And researchers concentrating on replacing the faulty gene in the airways only I fear will leave pwCF short changed – in other words up the creek without a paddle! We are also seeing this in pwCf who have had lung transplants. They haven’t been cured of their co-morbidities though some may have their Adrenal failure improves by the anti-rejection drugs given post-transplant.
-
Hi Kay. No I am not in a CF Clinic just a humble husband of a wife who does have CF and has done so for nearly 82 years but only diagnosed 15 years ago. She has one of the 100 or so mutations, R75Q; of which just 9 are recorded in the Australian CF Registry and is probably the only person in Australia with that variant and not F508del on her other chromosome.
As a retired Vet who has had to nut out some curly problems in my patients over a 50 year career I am not averse to posing curly questions. With CF I see that there is much unknown especially as to why pwCF have so many co-morbidities. Abnormal intracellular chloride and other electrolytes seem to be a reasonable explanation. I fear that just treating the lungs is shortchanging pwCF.
CF Physicians, while needing to be experts in the lungs, need to be expert general physicians!
-
Are they going to try you on a lower dose of Trikafta, Orkambi or on Lumacaftor (an earlier drug)? That often reduces the liver damage. It appears your sarcoidosis is an inflammatory response to past infections.
-
The CSIRO, Australia’s government owned and funded research organization, has developed a diet that is recommended for Diabetes and obesity – indeed most persons. It is published in a number of their books, one of which I have attached.
-
This seems common with CFRD (probably CFRD is called Type 3C by some). My wife’s blood sugar (BG) swings widely sometimes even when she has eaten nothing. Usually dips overnight and may be blow 3mmol/L about 3-6am. At times has been difficult to get up. We have found adding glucose to an electrolyte drink seems to work best. It seems abnormal intracellular electrolytes plays a significant part in CFRD. Where? Does it play a part in the production of Insulin in the Islet cells or in the activation of that Insulin? It seems people on Trikafta have better control of their BG. Do they? Comments please?
-
Aspirin (Acetyl Salicylic Acid) is an anti-inflammatory and reasonable pain killer, but not usually classed amongst the NSAIDs and is not a steroid such as Prednisolone and Cortisol are. It is an extract from the bark of the willow tree. It has many benefits but also like all drugs some issues. it is irritating to the stomach and can cause bleeding. In low doses (100mg a day) does reduce clotting and the propensity for heart attacks.
I once had a dog with severe gastric bleeding – a colleague had put him on Aspirin and the naturopathic Willow Bark Extract together. At I knew how much Acetyl Salicylic Acid was in the Aspirin tablets – How much more was in the WBark Extract was the unknown. This is why I am wary of naturopathic/alternative medicines. I like to know what I am taking and how much!
-
The latest news from Aus:
1. Ivacaftor has been recommended by the PBAC (The Pharmaceutical Benefits Advisory Committee – a Gov Committee) that it should be available to any pwCF who has a mutation where there is evidence it should help. This will make it available for about 10 persons in Aus. that can’t get it now, incl Reva. Just have to wait for the Health Minister/Gov to act!
2. Trikafta is being considered in March for kids aged 2 to 6 years by the same committee .
-
One may question the cause of your sarcoidosis. little is known about it in ‘normal’ people though like Sjogren’s it is thought to be autoimmune. In CF both these conditions appear to be inflammatory reactions in the damaged lungs. Could be a sign of the presence of Mycobacteria, a bacteria not uncommonly seen in pwCF.
-
“More vigorous exercise boosts life quality, lung health with CF” was posted today. It is well known the benefits of exercise is great for pwCF as with all people but the conclusions of an article such as this are flawed by the question ‘which is the chicken and the egg?’ The conclusion made was that those who exercised better had better health and lungs but is it that those with better lungs and health could exercise better. A pwCF with poor health and lungs may be depressed in that they cannot achieve what this article suggests they should. While encouraging the best for our pwCF we need to be compassionate in understanding and awareness when interpreting results such as these.
-
Hi J-P,
Lyrica (Pregabalin) is a rather strong pain killer that works best in neurogenic pain. Was originally developed for epilepsy. Needs reasonable supervision with a particular check for suicidal ideation. Otherwise is very good but can be addictive.
With all drugs we should read the Product Information sheets. In Australia we have 2 forms, a CMI which a consumer Information sheet that should be either in the packet or supplied by the Pharmacist when dispensing and a much more detailed PI (Product Information). Both can be accessed through the TGA (Therapeutics Goods Administration) – Australia’s controlling organization in the Health Department. Search TGA Australia. It can be a bit daunting searching for the information but I usually go through the public TGA Information. You may have to tick a consent box or so. The US has a similar source of Info.
-
The drugs you mentioned are quite varied: some are anti-inflammatories and some anti-allergy . Both have their place – we have found low doses of Ibuprofen do improve breathing. Usual dose is 2x200mg 4x a day but we find just 1 capsule once of twice a day is adequate. It is a Nonsteroidal Anti-inflamatory (NSAID). Need to watch kidneys & Liver with NSAIDS. Aspirin can help but again need to watch side effects as also Panadol.
Re: Anti-allergy drugs there is a plethora of Antihistamines and the like for Asthma – all have their peculiarities/side effects – some worse /some better than others. Most relatively safe.
-
One may question the cause of your sarcoidosis. little is known about it in ‘normal’ people though like Sjogren’s it is thought to be autoimmune. In CF both these conditions appear to be inflammatory reactions in the damaged lungs. Could be a sign of the presence of Mycobacteria, a bacteria not uncommonly seen in pwCF.