#sdhd

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 mean it’s nothing bad, i’m officially in ‘watch and wait’ with these three tumours, and this is the appt to say sayonara to the radiation oncologist, and get referred back to my prof of endocrinology for lifelong surveillance until the next unexpected hiccup in the road. 

the verdict so far is that the two tumours treated with radiotherapy are feeling sorry for themselves and probably won’t grow again for a while, and the untreated tumour is staying small. 

for people who want to learn more about the condition i have, aspects of it are covered here! i have the SDHD gene fault, which is an autosomal dominant genetic cancer syndrome. i have three paragangliomas currently, and the fourth was removed when i was 18, along with my external and internal carotid arteries on the left-hand side of my neck (replaced with saphenous vein graft from the inner thigh, and resulting in a fucking wicked 30cm scar - consequently all the bloodflow to my face comes from the right-hand side)

Date with Alter. Date Fee: $5000 Customer Comments: "It looked like it would be a fun day, but as it turns out... (Person in late 20s)"

If it gets to much, just remind yourself that there is a real thing called 'the Cyberknife panel.' Say it outloud and remind yourself that humans are ducking strange and amazing creatures.

I am honestly in awe of my medical staff and the technology I’m being allowed access to, especially as I’m not a private patient and a lot of people decry our public system for being slow / poor and a lot of other things. (Unfortunately I guess that’s the ‘privilege’ of having a very rare disease, is that it is given more weight). I have not been treated ‘slowly’, and my treatment has not been poor. 

But like, to have access to Cyberknife at all - whether they go ahead with it or not - when I know others in other states of Australia would have to fly interstate just to consider it... I am very fortunate. I see surgeons who respect me and my views, who listen to my opinions and one even asks me how my mental health is going (if you’ve seen surgeons or specialists before, you’ll know this is rare, lol). They never rush me out of their rooms in 10 minutes, and they discuss things with other specialists if they’re uncertain. 

I mean it’s not all been a smooth ride, and one of the downsides is that they don’t have all the answers, because this condition is just too rare (which is why my Radiation Oncologist is vacillating on the treatment protocols for my condition, there literally aren’t any protocols, he like co-invented the Australian protocols for Cyberknife, lol). Sometimes I know more about my condition than they do, but they’re very humble about that. My Assoc. Professor Endocrinologist says this frequently: ‘You are teaching all of us all the time, and we’re fortunate, even as you’re not. We get to learn, and we will try and help you in the meantime.’ 

He also tells me to shoot him an email if I find any good academic articles about my condition, lol. 

So, like, right? Cyberknife panel. And something called Cyberknife exists! There’s also something called Gamma Knife. :D The world of technology around illness improves all the time, and I am immensely thankful to live somewhere that allows me to access that mostly for free, because of public healthcare. I would be dead by now in another country, and I will always sort of...be in awe of the professionals, the technology, the country I’m in...

In some ways I’m unlucky, for sure, being 36 and looking down the barrel of what head/neck tumours can do to you is no lark in the park. But in other ways...yeah, the world is amazing place.

Tbh even after however many decades I still find MRIs fucking amazing like you are in a tube and they are LOOKING INSIDE OF YOU that is amazing. They are looking inside of me to help me and my life. If it was 50 years ago, 100 years ago, 150 years ago...

Well...

This is going to sound weird, but thank goodness your doc has a panel of their peers to take your case to, because that sounds super complex and sometimes it takes twenty opinionated experts citing papers and smacking each other down for three hours to come to a good decision in complex cases Which doesn't make it any less frustrating for you, but I'm glad a bunch of experts are going to have to come to a hard-fought consensus for you, if that makes sense?

Yah, it’s the nature of the disease though. Like no one with SDHD or SDHB would be surprised to have this happen: 

So far I have been discussed amongst: a panel of endocrinologists (within the state and Australia-wide), a team of vascular surgeons, a team of ENT surgeons, a team of a neuro/vascular/ENT surgeons (each the heads of their respective departments and taking point on my case) and registrars, and now a panel of radiation oncologists (and presumably their registrars). 

Like, for this condition there is: 

- No grading system for the severity of the disease. (Not recognised globally or per country). 

- No understanding of how the genetic defect affects the body outside of the tumours. ‘Surely Succinate Dehydrogenase defects re: the ATP cycle is bad but there’s no funding for that so just...tell us your symptoms and we’ll note them down and be unable to confirm if that’s the defect or not cheers.’ 

- Not being able to determine if the primary tumours are benign or malignant. Latest science says they are now all malignant because of the way they behave and the complexity of treatment, even in the absence of metastasis.

- No consensus on whether it should be called ‘cancer’ or not (now leaning towards ‘cancer’ - but not all my specialists agree. Surgeons call it cancer. GP calls it cancer. Endo says ‘well we don’t know yet because the paperwork isn’t official’ and RO says ‘um.’ Differs by country and field of speciality. Oncologists say ‘it’s basically cancer, but also not quite, but basically, but not - but we treat it like it is, so...baSICALLY...’) 

- No understanding of why some people’s conditions metastasise and others don’t. As in: no determining risk factors, and with no grading system, no way to go ‘stage 4 has X chance whereas stage 1 is X.’ 

- No understanding of why some get tumours younger and some don’t, they think it’s down to gene penetrance, but they’re not sure. 

- No global agreement on treatment protocols (even on surgery vs. radiotherapy vs. lutate (chemo) vs. abstaining). 

- No agreement on the basic testing protocols like should it be plasma metanephrines, 24 hour urinary metanephrines, or dopamine / tyrosine tests? (Recent leanings is plasma metanephrines, but many doctors prefer urine despite accrued case studies indicating it’s no better and more inconvenient to patient). 

- No agreement on how to respond to hypertensive crisis as caused by shoving a scalpel near tumours that dump fucktons of cortisols and adrenaline into the body if you so much as look at them wrong. Some surgeons like beta blockers. Some surgeons like intra-surgery management. Some surgeons like nothing at all, believing it’s too rare for the risks of beta blockers. 

- No agreement on what kinds of surgeons should be taking point on the surgery. Often leading to gross surgical mismanagement across the world, as say, a vascular surgeon or gastrointestinal surgeon takes something that should be at least partly-managed by an endocrinological surgeon who understands the treatment protocols for hypertensive crisis as caused by paras and pheos. It can take months-to-years for the body to adjust to a para/pheo being removed, for example, and that often needs hormonal treatment. Especially in the case of pheos where someone has SDHB. Let’s not even get started on SDHD / C etc. where they know even less. 

- No agreement on if tumour removal should be followed by radiotherapy, and no agreement on how to determine if someone is in remission. (Pro-tip, if they have the genetic defect, they never will be - but ten years with clear scans means you don’t have to have scans for the rest of your life. Sometimes. Not in Australia - no wait, not in Perth). 

Oh and finally:

- No agreement on how often surveillance scanning should be done or when it should be started if you have the genetic defect. Some say from age 5, to have whole body MRI every two years. Some say from age 8. Some say from age 11. Some say every six months, one year, three years.

Once you have active tumours, there’s: 

- No agreement on how often surveillance scanning should be done or when it should be terminated. Some say it should never be terminated (the prevailing opinion). Some say 3 months, some say 6 months, some say 12, some say 2 years, some want a varying scale

OH AND ACTUALLY FINALLY:

- No agreement on what kinds of imaging should be done. In Western Australia, it’s PET scan every five years with Octreotate, and for me a whole body MRI with gadolinium every 6 months (more regularly right now) for the rest of my life. 

Elsewhere in the world (largely funding / machine dependent), it’s CT with contrast only, or only MRI (PET and MRI is considered superior as a combination, but a lot of places won’t fork out for this). Or MRI with no contrast. Or PET with non-DOTA chelators. 

...

And so it goes on.

*

Even in the US with their shitty, shitty healthcare, people with Paras/Pheos who have the genetic defect are usually sent to major centres of research to get involved with trials and multi-disciplinary teams. 

It’s not uncommon to actually be allowed to conference call with your teams, because there’s so little consensus at every step of the way that you might as well be fucking involved. The specialists tell you to self-advocate, and they say: ‘you will have to explain this to everyone who doesn’t know about this disease.’ 

Sucks if you don’t want to do that because you’re being crushed by the disease in the first place.

Doctors common responses: ‘Para what now?’ ‘SDHD - what does that stand for?’ ‘Oh, so it’s...benign? No wait.’ 

*

At the 2017 Symposium on Para/Pheos in Australia, the world’s best specialists all flew to Sydney and basically argued diplomatically with each other (along with the patients, who were invited to the Symposium alongside specialists at a discount, because there’s so few of us that we’re often all intimately familiar with our specialists and we’re almost all in fucking case studies lol like ‘oh that’s Darren from Pacak’s study right? Oh yeah, I remember talking to him about X doctor regarding this study and didn’t he shit talk that trial...’) about the situations as they present themselves.

Sometimes they come to good decisions. Sometimes they don’t. Sometimes they throw their hands in the air and say ‘twenty people in the world have this type of tumour and you have it in an entirely new way so we just don’t fucking know.’ 

The joy of rare disease.

Oh hey, it’s rare disease day tomorrow! *thumbs up*

Rare diseases suck. I have been a case study already. I have been a ‘how not to do things’ case study (re the first surgery) and a ‘how to do things right’ case study (re the first surgery, LOL). 

It sucks to have panels discussing your case. Truly. Like on the one hand yay people get to learn things! 

‘hi i have a genetic disease called the SDHD fault help me’ (heavily paraphrased)

‘oh that is very rare’

‘yes can you help me’

‘yes i think so can you get your doctor to give you an indefinite referral’

‘wait indefinite? oh, that’s right, it’s incurable’

‘yes, it is’

‘so my case is rare enough?’

‘yes, it is’

‘so i’ll probably see [desirable professor who has been recommended to me by desirable professor in Sydney but is extremely hard to see who only holds a clinic for two hours once a week and like at this point i’m pretty sure i’ll see Santa before i see him]?’

‘indeed it is his area and yes he is rarer than a unicorn but i think he’ll make an exception for your case.’

‘hey cool, i hope you have an awesome day thank you for helping me’

‘remember the referral needs to be indefinite.’

*hangs up*

If you're new to this situation, I have a thing called Hereditary PGL/PCC or PGL1 or the SDHD variant or gene fault. It is incurable. And it makes me grow tumours. It's also known as the paraganglioma/pheochromocytoma thingie, which are very rare endocrine tumours that are rather horrid and never benign, even if they're not metastatic. It's also known as  'you have para what?' and 'how do you pronounce that again?' and 'geez, I'm a doctor and I still have never heard of it' and 'is that cancer?' I currently have two paragangliomas. Both on the right hand side of my neck. One is a carotid body paraganglioma that sits nicely between the internal and external carotid arteries (this is bad for the arteries, they couldn’t save them the last time I had a carotid body paraganglioma on the left hand side). The other is a glomus vagale tumour that is growing in the vagus body of the vagus nerve, and this one is large enough to be pushing my arteries apart, and is a little too close to the jugular and the tympanic membrane and skull case. A hungry glomus vagale will happily eat the skull and penetrate into the brain, but...so far that’s not happened to me. *crosses fingers*

- fasting 10-12 hours - but drink water - no exercise in 24 hour period - no mints - no coffee - no strong flavours in 24 hour period outside of fasting - no smoking (okay I don’t smoke that’s fine) - lie down on back in dim room for 30 minutes before bloodtest - no speaking - no moving

I love this bloodtest so much. It’s also the one where you say it to a professional and they go: ‘a what now? Plasma what?’