wheresonichedgehogwnt replied to your post âI start radiation in the next 30 days (well he said âwithin the monthâ...â
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, itâs the nature of the disease though. Like no one with SDHD or SDHB would be surprised to have this happen:Â
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).Â
Like, for this condition there is:Â
- No grading system for the severity of the disease. (Not recognised globally or per country).Â
- No understanding of how the genetic defect affects the body outside of the tumours. âSurely Succinate Dehydrogenase defects re: the ATP cycle is bad but thereâs no funding for that so just...tell us your symptoms and weâll note them down and be unable to confirm if thatâs the defect or not cheers.âÂ
- 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 âcancerâ or not (now leaning towards âcancerâ - but not all my specialists agree. Surgeons call it cancer. GP calls it cancer. Endo says âwell we donât know yet because the paperwork isnât officialâ and RO says âum.â Differs by country and field of speciality. Oncologists say âitâs basically cancer, but also not quite, but basically, but not - but we treat it like it is, so...baSICALLY...â)Â
- No understanding of why some peopleâs conditions metastasise and others donât. As in: no determining risk factors, and with no grading system, no way to go âstage 4 has X chance whereas stage 1 is X.âÂ
- No understanding of why some get tumours younger and some donât, they think itâs down to gene penetrance, but theyâre not sure.Â
- No global agreement on treatment protocols (even on surgery vs. radiotherapy vs. lutate (chemo) vs. abstaining).Â
- 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 itâs no better and more inconvenient to patient).Â
- 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 itâs too rare for the risks of beta blockers.Â
- 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. Letâs not even get started on SDHD / C etc. where they know even less.Â
- 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 donât have to have scans for the rest of your life. Sometimes. Not in Australia - no wait, not in Perth).Â
- 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, thereâs:Â
- 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, itâs 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.Â
Elsewhere in the world (largely funding / machine dependent), itâs CT with contrast only, or only MRI (PET and MRI is considered superior as a combination, but a lot of places wonât fork out for this). Or MRI with no contrast. Or PET with non-DOTA chelators.Â
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.Â
Itâs not uncommon to actually be allowed to conference call with your teams, because thereâs 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: âyou will have to explain this to everyone who doesnât know about this disease.âÂ
Sucks if you donât want to do that because youâre being crushed by the disease in the first place.
Doctors common responses: âPara what now?â âSDHD - what does that stand for?â âOh, so itâs...benign? No wait.âÂ
At the 2017 Symposium on Para/Pheos in Australia, the worldâs 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 thereâs so few of us that weâre often all intimately familiar with our specialists and weâre almost all in fucking case studies lol like âoh thatâs Darren from Pacakâs study right? Oh yeah, I remember talking to him about X doctor regarding this study and didnât he shit talk that trial...â) about the situations as they present themselves.
Sometimes they come to good decisions. Sometimes they donât. Sometimes they throw their hands in the air and say âtwenty people in the world have this type of tumour and you have it in an entirely new way so we just donât fucking know.âÂ
Oh hey, itâs rare disease day tomorrow! *thumbs up*
Rare diseases suck. I have been a case study already. I have been a âhow not to do thingsâ case study (re the first surgery) and a âhow to do things rightâ case study (re the first surgery, LOL).Â
It sucks to have panels discussing your case. Truly. Like on the one hand yay people get to learn things!Â
On the other hand, boo they know almost nothing about my disease or how to treat me because thereâs hardly any peer reviewed research that might increase my survival and quality of life odds that isnât based entirely in a minimal number of patient studies and the statistics are lacking and highly variable.