What are you looking forward to in 2024?

[gina-michele]

I’m looking forward to quite a bit in the upcoming year. From planned travel experiences, to continuing to build upon the foundation for myself and my family’s future, and hopefully (and importantly!) to more and more advancement in helping those with CF – especially those with nonsense (rare) mutations!

[kay]

Oh wow Gina – thank-you!

I think I fall into that category of CF. Diagnosed at 54yrs old a few years ago now. What a journey it’s been indeed. I’ve got one known – common mutation (5T) that is considered to be trivial. The other one? Well…. they said,”No point testing as it won’t change your treatment”. So whatever it is – it’s the bad one!! I actually think even having that “bad one” on its own causes problems. This would explain my father, his mother (my grand-mother) and then her father (my great-grand-father). All of them experiencing CF-like symptoms.

But me getting the 5T on top was the tipping point.

I had a facial with a steamer in late 2019. Steam going up my nose for about 15 minutes. Steam loaded up with NTM….

It took almost a year to get diagnosed and you can imagine the state of my lungs…cavities.. bronchiectasis..

The bronchoscopy that followed nearly killed me giving me hospital-acquired pneumonia. Yes everyone reading this – about 6% of people that have a bronchoscopy will walk out of it with pneumonia. Couple that with raging NTM that took a month to identify and my infamous doctor refusing to start me on any medication for it during that time. I got another cavity while waiting…

More drama… and eventually after seeing multiple other specialists … I got told to have a sweat test.

The rest is history…

I had to beg my CF clinic for help with lung clearance, something that pulmonary specialists and the clinic seem incredibly nonchalant about. Yeah – whatever …

I mean, from my reading, if you have bronchiectasis which I’m guessing most CF patients will have (or get) … they should be like Army Captains drilling the importance of lung clearance at EVERY appointment. For me? Nothing. It’s up to me to do it.

Bizarrely it feels like they want me to get sick again so they have a job… and no, these people are not rushed. The appointment is 30 minutes. It costs nothing to say.. “Hey, how is your lung clearance going? Anything I can help you with?” Nope – stone silence.

[William]

Kay, I would look into seeing if you can acquire a Vest of some sort (with the help of insurance) that does airway clearance for you. I’m not sure if your medical team would write a recommendation for you and, if they don’t, I’d seek out a new medical team that actually cares.

[tim-blowfield]

I am looking forward to:

1: Trikafta being available to those who have mutations other than F508del that Vertex has shown to respond.

2: Greater awareness of the effect of the faulty CFTR as the cause of the so many ‘co-morbidities’ seen in pwCF. It appears that these are caused by abnormal electrolytes within cells caused by the Chloride ion being retained and high in the intracellular fluid necessitating high cations to balance it. High Calcium may be expected to affect Parathyroid function causing hyperparathyroidism and osteoporosis. It may also affect muscle function including cardiac causing myocardiopathy and poor response to many cardiac drugs esp. Calcium Channel Blockers. High Potassium may also be the cause of Adrenal malfunction and Hypokalemia, cardiac muscle and even nerve malfunctions. So much to learn and currently being ignored.

3: More information being gathered on observations of what Trikafta and the other modulators are doing in the body apart from the lungs (not ignoring the lungs). It appears that many of its ‘side effects’ are from it ‘correcting’ the intracellular electrolytes.

[kevin-schaefer]

Great list, Tim! Happy 2024!

[tim-blowfield]

Kay, Sorry your experience has been so poor. You should be asking for further genetic testing as the unknown mutant may be one that responds to a modulator (eg Trikafta). If it does then that would improve your treatment immensely.

[William]

One has to wonder if the body is taking a hit with the experiences of these side effects or the body is attempting to adjust to these side effects.