wheresonichedgehogwnt replied to your post “I start radiation in the next 30 days (well he said ‘within the month’...”
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).
- 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
- 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.
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.’
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!
On the other hand, boo they know almost nothing about my disease or how to treat me because there’s hardly any peer reviewed research that might increase my survival and quality of life odds that isn’t based entirely in a minimal number of patient studies and the statistics are lacking and highly variable.
