#SDHD gene fault

[not-poignant]

It's that time of year again! Hammered out a modest (for me) word count of 472k over the year, with December's reflecting my overall burnout. Finished Falling Falling Stars, started another story to get addicted to (Underline the Black and friends), and overall it's been a great year for emotionally authentic writing! (My yearly wordcount does not include: worldbuilding, outlining, planning, multiple drafts (only the first draft of a chapter is included), or half-chapters since I *only* count completed chapters. It's a bit unconventional, but having a monthly wordcount where I only count completed chapters has been working for me for years now!)

This has been the first year in a little while that I haven't hit 500k, which I think reflects both a desire to spend more time relaxing and resting between writing, but also being absolutely smashed with a lot of new medical diagnoses and appointments, and being often too burnt out to write at all.

Next year doesn't look much better on the medical front, and may indeed be a lot worse. Being diagnosed with Chronic Obstructive Pulmonary Disease (COPD), T2 Diabetes (50% of the people with my permacancer get T2 diabetes which only goes into remission upon removal of the tumours, but my tumours are inoperable, so my T2D can't go into remission) and possibly Pulmonary Arterial Hypertension (PAH) on top of all my other disorders each came as huge blows. One of the saddest being learning I may never be able to take ADHD meds again, and having to stop after a very amazing 3 months where I could schedule writing ahead for the first time in my life, and plan a holiday for December.

There will be no more Schedules going forward, that was sadly a 'medicated ADHD' blessing, and it's gone now. :(

So going forward into 2023 I don't know what writing I will be doing or what I will achieve. I don't know if I can continue writing the way I have been, and if I get an official confirmation on the PAH (so far it's only CT confirmed), and only have around 5~ years left to live, my writing future could look very different indeed.

But it's business as usual in the meantime.

This year I am the most broke I have ever been on the medical front (I have no health insurance, and only some of our healthcare is free, which doesn't include psychiatry, or the calibre of therapy I need, and now that I need to see a private pulmonologist and possibly engage in lung rehabilitation, things might get pretty awful pretty fast). I have never been more grateful to all the folks who have supported or who are still supporting on Patreon or who have given to Ko-Fi.

I love everyone who is in this little community, but for the ones who kept me financially afloat so I didn't drown, thank you.

[capillata]

update!

- i have a horrible rash inside the entirety of my mouth and throat. my tonsils are swollen and my gums hurt. yay. 

- another 1.5 weeks before things stop getting worse? actively worse? and then they might plateau. and then they might start getting better. they also may never.

- food is disgusting! all food! all drinks! even water! i’m not going to talk about weight loss because i’m pretty sure i’m not that far away from a gastrostoma / PEG feeding tube and let’s just ignore that.

- a lot of people think i am better now, including me, which means i start to do more things, which means i may have made things worse. 

- casual but increasingly frequent suicidal ideation is about as much fun as it sounds. (see my therapist next week. provided i’m well enough to get there, and my throat is intact enough to talk. um).

- when everyone tells you ‘things will get worse for 2-3 weeks after radiotherapy’ and you and everyone you know interprets that as ‘things will plateau for 2-3 weeks’ you are all wrong and actually things will get worse for 2-3 weeks after radiotherapy. my entire body’s general reaction right now is ‘WHAT HAVE YOU DONE TO MEEEEE, I WILL AVENGE USSSSS, BY FIGHTING USSSSS.’ 

- like it’s a whole bullshit Godfather metaphor up in this shit

- radiotherapy of the head/neck is no joke. 

- hahahaha it could be months before i can taste again (if i can at all) and in the meantime everything tastes bad like my brain has reacted to no taste by going ‘you have lost this sense, clearly this thing is bad for you, it might be poison! bad!!! spit it out!!!!!!’ my brain is okay with cornflakes, so clearly my brain is against masturbation. 

- i miss saliva. a lot. i miss that warm wet bath my teeth lay in all day, without me thinking about it, and now my teeth and my gums miss saliva too, we all miss saliva. i thought i had a dry mouth before (and i did, sometimes), but hoo boy, nothing like this. rice pudding is too dry to eat. 

- all the research says mental illness spikes after radiotherapy and boy howdy that’s no joke either because that’s when the majority of the support vanishes, and you feel pressure to start being like ‘yay it’s over everything’s great!’ meanwhile i’m going to go bathe my throat in glycerin, castor oil and polymers and sleep in the hopes that i don’t wake up to bursting pustules in my mouth and throat in the morning. or something. 

- also i want that stupid lactose free protein powder to arrive because that would help a ton. i think.

- ugh. 

- sorry for whining i am trying not to vent on facebook, twitter, dreamwidth, my other tumblrs, and to actual family etc. and that pretty much leaves here. (if you notice me whining everywhere else it’s because i’m weak, weak i tells ya)

[not-poignant]

Have you ever thought of moving abroad? If you could live anywhere, where would it be?

I have thought about moving abroad! It was all I wanted to do when I was younger (and we had no money and couldn't afford to go anywhere overseas). Back then I thought a lot about Canada mostly because it was cold, or New Zealand, because it was cold, lmao.

When I was able to travel, I thought about Melbourne (which isn't really moving abroad, but hey, it is a 4 hour flight away which feels like the same thing sometimes), and also Scotland, which I well and truly fell in love with. We even priced up real estate in Scotland and talked about making it feasible.

But...unfortunately, having an extremely rare genetic and incurable cancer condition means you almost always have to be very close to a hospital with specialists who actually understand your condition and manage it, and Scotland actually isn't known for being one of the best hubs in the world for the SDHD gene fault. On top of that, the NHS wouldn't be free for me as healthcare, and the yearly MRIs, thrice yearly PET scans and blood tests alone to monitor things are a lot of money if you're not able to access socialised healthcare.

There's only a few places in the world that would actually be kind of skilled enough and have the right kind of specialists for my disease, and that ruled out New Zealand, Scotland (especially the time spent waiting to access the NHS in the first place), Canada, and anywhere else I wanted to live. It's left us with other locations in Australia, but again, the only other place I really want to move is Tasmania, and anyone who wants treatment for this condition in Tasmania has to fly to Melbourne and back again just for consultation appointments.

To give you an idea of how hard it is to find specialists.

I am...miraculously lucky here in Perth. I almost thought we'd have to leave the state for a few months to find a specialist for my condition, and it turned out we lucked into two, and I have one of the best in Australia. Depending on the number of tumours I grow and what they're doing, I need access to the best neurosurgeons, vascular surgeons, endocrinologists, ENT surgeons, and medical and radiation oncologists who know what PRRT is, or gamma ray, or debulking. People with this condition die in places with specialists who don't understand. These tumours can cause a hypertensive crisis if you so much as touch them - biopsies have literally killed us, and many don't understand not to do them because when most doctors see a tumour they want to stick a needle in it.

I don't recommend having disabilities of certain kinds - particularly the kinds that need unique management (one of my tumours occurs in only 1/20,000,000 people to give you an idea of how rare it is) - if you have dreams of moving abroad. It was a pretty sad realisation honestly, because I'd be like 'but what if- oh, the tumours.'

These ticking time bombs basically mean I can never move far away from a hospital of any kind, and it's incurable, so you know, that's that pretty much done. No more indulging thoughts of moving abroad. But I'd like to visit Scotland again one day, when it's safe enough for immunocompromised people to travel freely. Which will probably not be in my lifetime. :/

[not-poignant]

Definitely don't have to answer if you don't want to but since I live in the Netherlands I'm curious whether your name is just simply Dutch or whether you were actually born here, or if you speak Dutch or have family or friends around here?

I'm first generation Australian, to Dutch and English immigrants. So I was born in Western Australia and my parents came over when they were kids/low teens. My Dad and his parents spoke Dutch all the time, but had zero interest in teaching either of us anything about the culture or the language. We learned a little about the culture and the food from our Oma and Opa (both now deceased), and sometimes from extended family who visited.

Tbh the most 'Dutch' thing I have from them is my autosomal dominant genetic cancer, or 'Dutch Founder's Syndrome' - now known as the SDHD gene fault, lmao. My Oma had it, many of her sisters and brothers had it, my Dad has it, my half-siblings have it, and I have one of the worst cases of it, with three primary tumours right now.

I have some family in the Netherlands but I've never been and I'm not in touch with anyone. No one ever reached out to us either. Tbh I don't know their names or how to contact them, and since our surname is pretty popular over there, that's not really a good place to start. With my Oma and Opa being deceased and being estranged from my Dad, I'm pretty much cut off from everyone now.

I have some Dutch foods I really like and sometimes special order, which is really one of the only connections I have left to my Oma in particular. And since I was raised by a working class mostly below or on-the-poverty-line immigrant family, I've never been there either. I *do* know that one of Oma's relatives immigrated to America, and that's it. I have no idea who they are either though!

[not-poignant]

Hey how's your neck stuff doing?

Hiya anon,

The truth is we don’t really know. I have an MRI in September to see how the tumours are going after radiotherapy (three months is about a standard wait for these kinds of tumours). And then after that I see my Radiation Oncologist in October, and I see my ENT surgeon in November.

Honestly it’s been a little stressful. I didn’t think about what it could mean if the radiotherapy didn’t work while going through radiotherapy, because I think very few people in the world would put themselves through head/neck radiotherapy if they felt like it would be a waste of their time (it’s a lot of side effects to acquire for ‘no reason’).

Rest is under a Read More because I’ve been stressed.

But now that it’s over with and I’ve landed with some of the permanent side effects (tinnitus (ringing in my ears), some cognitive dysfunction (that’s brain damage, but it’s super mild), loss of saliva production etc.) I’m now sort of looking forward to the future and having more moments of anxiety realising how much I’m fucked, and how much my quality of life is fucked, if the radiotherapy didn’t work.

So honestly I try not to think about it very much because the difference between ‘it worked’ and ‘it didn’t work’ is like, my life as I know it being over - both literally (I’ll die a lot sooner) and in terms of quality of life (the surgery to remove the two tumours takes three specialist surgeons and will ruin my life. Like the baseline unavoidable side effects are: deafness, loss of arm function, loss of ability to speak and swallow, increased risk of choking on like...yourself...and the other side effects of the surgery include high risk of things like stroke, brain damage (and death), and there’s no guarantee the tumours won’t just grow right back in the surgical site, which...then...they can never be treated again I think).

And I still have an untreated tumour on the other side of my head which like, could decide to grow and cause deafness at any time (it’s one of the primary side effects of that particular tumour, along with blocking bloodflow to the brain, which is about as much fun as it sounds).

Anyway, the upside of this is the radiotherapy probably worked (it has a 90% chance to) and I’m just soaking in my own PTSD and anxiety over it until I know for sure. But due to a few other things happening in my life at the moment (including a family member I love dearly going through their own cancer battle), I’m just...not managing my mental health as well as normal. Also I’ve been super short-tempered. So I am not my favourite person right now.

But, okay, neck stuff tl;dr is probably going well but we don’t know. At least I’m not having to do anything (like treatments) right now.

[not-poignant]

rynfinity replied to your post: Hey how's your neck stuff doing?

waiting sucks so bad. i’m sorry!

Yeah the most common strategy for dealing with this disease in general is called ‘Watch and Wait’ and I think that’s why it’s one of the few diseases where your doctor and your Endocrinologist pause and go: ‘So...how is your mental health going.’

Because Watch and Wait is brutal. (Honestly, they don’t do this with any of my other illnesses, lol). Sometimes it’s fine? It gets worse right before a new scan (which is affectionately known as Scanxiety in the cancer syndrome group I’m in lol) which is like ‘life is normal life is normal life is normal shit I have a scan coming up in a month OH GOD I’M GOING TO DIE AND THE SCAN WILL PROVE IT.’ Lmao. It’s kind of amusing, because it’s a predictable and unavoidable process.

The theory is that because the disease was generally found with the scan, and because the scan is usually what will announce Game Over as well, it’s basically like, voluntarily retraumatising yourself every year (or in my case at the moment, multiple times a year) so you get all the typical PTSD relapse symptoms in the month or so before hand.

But *hugs* thank you <3 waiting does indeed suck. In an ideal work, by this time in October, I’ll be back to ‘life is normal’ and not thinking about it much again. :D

[not-poignant]

I'm so sorry to hear about all that you're dealing with, but I am very very glad that you are willing to 'vent' to us. I would much rather know how you are truly doing rather than just a) me assuming things are okay and then accidentally doing things that may stress or aggravate you, or b) not knowing anything and worrying a whole bunch. I mean, I know I can't actually DO anything, except feel bad for you, but I still love when you're willing to share the hard stuff.

Referring to this post.

But, again, like, the alternatives are not better, either. So we do what we do.

It’s very up and down anyway. There are some great moments still, and it’s not all bad, and it means something that I can occasionally vent on that blog and people aren’t like ‘god you are the actual worst’ (or if they are, they are too polite to say so! lol).

[not-poignant]

Were you finally able to take your long-anticipated wonderful warm shower again? (I remember you said you had to wait at least until the 14th, was that right?) If so, was it everything you'd been longing for? :D :D

Hiya anon,

Not a proper one, unfortunately. They’re still not that warm yet.

It’s partly that things kept getting pretty sharply worse for a while, and I’m still recovering from that. Like, the skin on the back of my neck got suddenly worse, so did the inside of my mouth, my jawbone, my throat, a few other things.

And it’s not really safe to kind of go warm while you’re still showing side effects, or while those side effects are getting worse.

It’s all kind of a waiting game right now, I’m not sure when I’m going to be able to have a proper hot shower again. Hopefully not much longer. :)

[not-poignant]

ratties-and-tea replied to your post: Only one more day!! (And then +two weeks. But hey,...

HNGHHH WEIRD ACCESSORY TO MUMMIFICATION BDSM THIS IS GOLDEN

I mean I legit started thinking this a few weeks ago like lying there on the carbon bed and clipped into the face mask and I was like ‘some people are into this as a kink and I know folks who would probably dig this in a situation with a safeword or a Dom or something.’

And then I giggled to myself like ‘tehe.’

[not-poignant]

Yay for the halfway point! Sorry to hear about side effects. :/ How are you holding up? (If you don't mind me asking)

Hi hi anon! Thanks so much for answering! I’m going to give a short answer here for the folks who don’t give a shit about my personal life:

I am holding up okay in the face of some unpleasant side effects and also pretty happy to be alive.

Now for reality, lol.

So far it’s been, ahhh...rough. So I’m gonna put this under a Read More.

Mostly at the moment the biggest issues have been losing my sense of taste and making almost no saliva, so I can no longer eat any dry food, and I can’t taste the rest of the food I’m eating (and if I can, it doesn’t taste good, lol).

I know it generally takes about two months after radiation has finished before the tastebuds grow back properly, so I’m probably looking at like...fuck, like August, before I can taste things again. And there’s no telling if the lack of saliva and damage to the parotid gland is permanent. If it is, that’s bad news bears for a lot of things, mostly my already not very happy teeth. That may also permanently affect the taste of food.

Unfortunately the side effect of this is I have been dropping weight really quickly, which they do not like at all when you’re having radiotherapy. Like, I have been told to blend straight up butter in with my smoothies, etc. lol because it firstly messes with the body’s ability to cope, but secondly means they’ll probably have to make another face cage at some point. I’m hoping not. I mean I’m keeping an eye on my weight, it’s just...yeah, kind of apparently you never realise how much you need taste to eat food until you can’t taste and then you’re like ‘pfft whatever.’ ;)

I’m also sleeping a lot. About...oof, maybe 14-15 hours a day at the moment. And I’m not very functional the rest of the time, though I’m still able to keep up with artwork and stuff, because that’s very lazily done in waiting rooms.

I’ve also developed blisters in my throat (er, google radiation mucositis, if you want to be horrified (if you want to be more horrified image search it but I don’t recommend that), but I only have it in my throat, and not my mouth, thankfully!), so that’s been a whole... Imagine you have really bad tonsillitis. Now imagine that instead of knowing it will sort of get better, you are going to be doing something that will make it worse for 11 straight days. Now imagine it will take like over a month to heal from and you might be bleeding non-stop by the end of it from the mouth and need a feeding tube. And you probably won’t need that, but you’ve been warned that you might need that. Lol. Right now I’m hammering the blisters with anti-bacterials and anti-inflammatories and it seems to be holding steady, thank goodness.

Otherwise I’m holding up okay, actually. Week 4 next week, which will be a welcome relief even though things will keep getting worse for a little while, and I’m looking forward to it being over.

I can’t remember if I posted these waiting room ballpoint pen sketches, but here you go! (These are actually like a quarter of the size they appear on Tumblr , lol).

[capillata]

week 2 radiotherapy things

- i have about 20% of my tastebuds left and what is left is like, not firing correctly, so today chocolate tasted sour. that was bad. i expect green smoothies and soup to be my future. it can take over 2 months for the tastebuds to return, and they may be permanently damaged. as we’re only in week 2, i expect my sense of taste to be fully obliterated. i’m sort of sad about it but also kind of like just resigned to it and there are plenty of other lovely things in the world so y’know.

- throat raw. i did spend like three days seeing mum, seeing sean, seeing mum/family, and talking more than normal. so i’m hoping this improves a bit. i think my throat may start kind of just literally falling apart though. 

- you don’t know how much you need saliva until your mouth starts producing almost none. i’m really hoping the damage to my parotid gland isn’t permanent. i still have some at the moment, which is good. but dry foods are nearly impossible to eat. if you can eat dry foods and swallow them without worrying about choking, *thumbs up*

this week i hit the halfway point. i have been assured it will ‘really hit’ about week 4. not in any way alarming.

i’m sleeping a lot and the fatigue is real. i am regularly too tired to make something to eat. sleeping really hard when i do sleep. doing everything much more slowly than usual. was a time when i’d do like 5 things in the kitchen at once. now it’s one thing. and sometimes not even that.

bless glen for fetching me food when i’m too tired to fetch it because i just go the ‘i don’t need food’ route which they don’t like. the nurses don’t want me to lose any weight. and i’m like ‘ugh.’ i’ve lost a tiny bit already (about 8 pounds). if i lose too much, they’ll need to make another face mask.

rewatching all the old seasons of Great British Bake Off and Nadiya and Tamal are like faves i love them so much. 

day 11 (of 25) tomorrow.

[not-poignant]

Thirded! You're my favourite writer, too!! I'm so glad your treatment is almost over! Will you be able to start taking warm showers again?

Alas no! No warm showers until about June 14/15 (same with not being able to return to my preferred shampoo/conditioner - I have been having a steady bad hair day for like 30 days now). Same with no sun / no sunscreen (so basically ‘don’t go outside during the day’) and etc.

Can’t get my hair dyed for about another 6 weeks. 

Tbh, I won’t really think of the worst part of this as over until June 14th. From next Monday, I enter about 2 weeks of what they call Peak Week/s, lol, which is where the symptoms steadily get worse without the support network of the clinic. It’s actually when most people’s depression/mental health spikes, because even though you’re not getting the radiotherapy every day, you’re still getting worse, you don’t have the nurses/radiologists checking in all the time, and that’s when a lot of folks expect that your life is going back to normal and you’re okay.

Because of how radiotherapy works, the cells are still dying (their DNA is being absolutely torn to shreds) faster than they can heal, and while that happens, side effects continue to worsen. Someone I know who is having radiotherapy in the same place for the same tumour, went deaf in one ear three days after radiotherapy finished.

The cells will continue to die - especially in the tumours and the cranial nerves - for another three months. Whatever ‘new’ side effects I have in three months’ time will be the permanent side effects. So we’re still waiting to see what they might be.

Prolly gonna be 2-6 months before taste comes back (this is a big problem and disability - without taste, you don’t make saliva anyway, and you can’t taste if food is spoiled and you lose your appetite and can no longer tell if you’re full and think you’re full all the time - eating right now is literally the worst part of my day and I dread it) and about 12 months before saliva fully returns. I think hair takes a while to grow back too? But I’m (so far) only losing a small patch of that.

BUT, all of that being said, I am also really glad that the treatment will be over soon. Being able to deal with worsening side effects without having to go on a lengthy drive to the clinic every day will actually be kind of nice. :) Plus no more face cage soon! And with every passing day I’m closer to getting at least some of my taste back and stuff, and getting something that looks like normalcy. Super looking forward to that too.

(And warm showers from like June 14th. YES YES YES)