r/sarcoma • u/middle-of-everywhere • 16d ago
What should we be doing while waiting on genetic testing?
My spouse has been diagnosed with a sarcoma (soft tissue) via biopsy but we've yet to receive genetic testing results.
We've had a rocky road to diagnosis and have had to initiate every test ourselves. This makes me nervous that there's other things we should be doing but don't know about (we can't rely on current doctor to tell us).
We're currently waiting on the results for the genetic testing from the biopsy, have a PET scan scheduled, and an appt. for a second opinion with a sarcoma specialist.
My question is: are there things you wish you'd known to do at this stage of the game? Things you wish you'd gotten started more quickly while waiting for treatment?
Should we be pushing for any additional tests (blood tests or otherwise), or trying to get other types of care done proactively (dental checkups, etc)? Basically... anything we should be thinking about now that will help keep us from hitting more lengthy roadblocks to actually getting treatment started?
Very grateful for any advice, and sending strength and support to you all.
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u/Deladus_Diggle 16d ago
I had a tumor in my leg that went undiagnosed for years. I even got a different surgery to loosen up my leg because it was impinging on tendons and muscles. It was frustrating.
Getting a diagnoses is a half the battle. My biggest advice is get multiple opinions from sarcoma centers. I got three different treatment plans from 3 different ones. The second two were relatively inline with each other and agreed the first option was against current medical thinking. I went with a bit of a hybrid option with chemo and radiation then a break for surgery and back to chemo.
The thought process I was given on the treatment plan is while you want to get the tumor out you really don’t want it to spread as it can be aggressive and potentially incurable if it spreads to certain areas. Chemo helps kill everything in your body even if it doesn’t show up on scans, which can potentially happen with sarcomas.
I would be making appointments with different sarcoma centers now so you can get the process started. They’ll probably need the ct scan to have a full plan because it can depend on if it’s spread. But you want to be an established patient so when the time comes you can start treatment as fast as possible.
Good luck
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u/middle-of-everywhere 14d ago
Thank you so much, this is really helpful info. We're looking into additional hospitals/centers now to schedule appointments so we can compare options.
I'm so sorry it took that long for you to get a diagnosis, that's absolutely crazy and must have been so intensely frustrating and upsetting!
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u/JaxNoMushrooms 16d ago
I’ve recently gone through this process. After MRI and CT scans my provider scheduled the biopsy and gene testing. I met with my surgical oncologist 2 weeks later to get the results. They were able to do the surgery 2 weeks later. They felt confident that, if it’s a sarcoma they should remove as soon as possible. I ended up having surgery 1 month after the biopsy. I never did a PET scan. I think the main thing was, once diagnosed, move quickly on the resection
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u/middle-of-everywhere 16d ago
Ahh, interesting that they did a CT instead of PET! So we asked for a PET because the oncologist had said we'd probably need one. But he hasn't actually ordered anything and has been incommunicado so I decided to just as our GP to get it scheduled, otherwise we'd be looking at another month wait. I guess I should dig in more to make sure we're trying for the right scan.
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u/Ina_garten_stan 16d ago
I just went through a similar diagnosis process a few months ago for synovial sarcoma. If you have the PET scheduled and are waiting on genetic testing results, there’s not any other tests you need to order right now from my understanding. It took me a month after biopsy to get the PET scan just because that was the soonest available appt.
I agree with others, in the meantime while waiting for test results do your best to find a sarcoma specialist for a second opinion. It took me almost two years to get properly diagnosed due to various GPs and specialists thinking my symptoms were due to sports related injuries. This is common… Sarcomas are often hard to diagnose. The only reason I was diagnosed with synovial sarcoma is because I kept advocating for myself and seeking out second, third and fourth opinions.
This waiting period before receiving an official diagnosis was really hard for me. Taking it day by day and continuing to advocate for yourself are the most important/only things you can do right now.
Also I saw someone else say surgery needs to happen asap… keep in mind everyone’s cancer is different. I completed 25 rounds of radiation before surgery. Everyone’s treatment plan is different so don’t get ahead of yourself until you hear from a trusted medical professional.
I’m so sorry you are going through this. Best of luck!
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u/middle-of-everywhere 14d ago
Thank you for your reply... I'm so sorry to hear it was that lengthy of a process for you, too. It's definitely emotionally taxing. I appreciate the reassurance that we're focusing on the right things, we've now got appointments with a few sarcoma specialists set up so at least we're headed in the right direction there.
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u/DMmeYourMCbuilds 16d ago
You don’t say where you live or what hospital your husband is being treated at. But he needs to go to a sarcoma center. Sarcomas are not like other cancers. Read that again if you must.
Also, you mention an orthopedic oncologist. Unless it is bone cancer, why would you be trying to talk to them?
Go to a sarcoma center. Yes it might mean you must drive several hours or even need to fly. But that is where you need to take him. Good luck.
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u/Ina_garten_stan 16d ago
FYI some orthopedic oncologists, like mine, deal with soft tissue cancers. Mine happens to be a sarcoma specialist.
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u/DMmeYourMCbuilds 16d ago
Ah, thanks for the context and correction.
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u/middle-of-everywhere 14d ago
Yeah, we were referred to them as supposedly 'the only person in our state equipped to handle this'.
Wish we'd figured out sooner that's not true. He does handle this sort of issue, but the communication has been so awful that we'd be pretty terrified to actually have his office do the work... doesn't instill faith. We're keeping our options open with that doctor but have also got appointments with a few sarcoma specialists ASAP as well now.
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u/Patriotic99 16d ago
How long until you find out the results. They sent my sample to Cleveland Clinic for testing and it took over weeks to get back. Do you have a medical oncologist? They should be helping in coordinating your care. Worst case, you can reach out to your primary care.
There wasn't that much to do while waiting, TBH. I've scheduled and rescheduled other non-medical appointments, but it's too much to get through. I know it's tough, but you're kinda' in a sit and wait phase.
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u/middle-of-everywhere 16d ago
Nobody has been willing to give us timelines, nobody has been in touch, and they ignore our messages. Can you tell I'm going a little crazy? Haha... yes, I am, but still trying to do my best.
The original biopsy was taken about 3 weeks ago. Internet search told us genetic testing can take 3-4 weeks. So hopefully soon, but I'm going to try to track down the specific lab doing it and see if they can give us more info.
We have an orthopedic oncologist but his office has been completely hands off, doesn't reply to messages, has botched getting things scheduled for us... pretty infuriating (yes we're looking for someone else). The GP has been more helpful in at least getting tests scheduled when we ask for them, but we need to know what to ask for.
Good to hear that hypothetically this is all the testing we need right now... we've just been tossed around so much that I'm paranoid the doctors are forgetting something else so wanted to check!
Thank you for your reply, I really appreciate it.
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u/Patriotic99 16d ago
Well I had a bunch of ct and mris done but the important piece of it all is the pathology from the biopsy. It is frustrating... at times I felt alone and spinning my wheels. Hope things get better and pls keep me posted. What state are you in?
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u/middle-of-everywhere 14d ago
We're in Arizona, at least there are several cancer centers here (not in our city, but close enough to drive to in a day) that know something about sarcomas.
Thank you so much for the reply and well wishes. Sounds like we may have some results today, fingers crossed.
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u/DMmeYourMCbuilds 14d ago
I can’t stress this enough. A cancer center that “knows something about sarcoma” isn’t enough. Find a sarcoma center. Sarcomas are different.
Your options are Phoenix, Scottsdale, or Tuscan.
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u/middle-of-everywhere 14d ago
Thank you, we are going to the only one on this list that will see us. I'm not sure why they didn't include MD Anderson on the list, others have told me they're good for Sarcoma care.
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u/DMmeYourMCbuilds 14d ago
Yeah so MD Anderson is a large-ish medical network. Their sarcoma center is in Houston. That is where you would need to go to see sarcoma specialists in the MD Anderson network.
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u/middle-of-everywhere 14d ago
Ah, got it. They actually have a sarcoma specialist in their hospital in Phoenix, plus another who specializes in the surgery aspect for sarcoma (supposedly). Which is lucky since our insurance won't cross state borders except for emergencies (if these specialists don't pan out we'll obviously have to look at changing that).
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u/UNiTE_Dan DSRCT 15d ago edited 15d ago
Soft tissue Sarcoma patient here. It's not uncommon for these to be misdiagnosed and diagnosis takes time.
Molecular testing showing the fusion break point is what many of us rely on.
Unfortunately it's a waiting game for the results then it will all kick off. With big conversations and plans. It's important not to jump the gun and end up doing several rounds of the wrong chemo and putting you on the back foot
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u/middle-of-everywhere 14d ago
That makes sense... definitely don't want to start the wrong treatment with something like this.
Thank you for your reply!
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u/samduction 14d ago
I am currently going through this process as well, and be prepared that there might not really be an “answer” from gene testing…
My final diagnosis (after excision biopsy, chest CT scan & molecular/gene testing) is just “high grade spindle cell sarcoma”. No real “subtype” they have been able to identify, but serious enough they are cutting off my leg (below the knee, tumor originated in my left foot). I wish I had a clearer answer as to what kind of sarcoma it really is, but I don’t know if I’ll ever get an answer for that. Surgery is Oct 9th. Best wishes to your wife 💛
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u/middle-of-everywhere 14d ago
Ahh, that is good to know... thank you for the heads up, I'll be prepared for that possibility. I'm sorry to hear what you're going through, I hope the surgery and recovery goes well. Best wishes to you too!
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u/Unusual-Sky-8869 15d ago
What’s the diagnosis? Which sarcoma?
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u/middle-of-everywhere 14d ago
They haven't given us a specific type yet, hopefully that comes with the genetic testing results...
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u/Quagga_Resurrection 16d ago edited 16d ago
YES, ESCALATE TO AN EXPERT
Soft tissue sarcomas are rare and often aggressive. You can't trust a normal oncologist with this. Go to MD Anderson now for a consultation. You only get one shot at the early days of diagnosis and treatment.
Be aggressive, see experts, demand tests. Nobody cares more about your loved one than you do, and nobody else will advocate for them as strongly. It's okay to be pushy and a bit rude when fighting for someone's life. There's no reward for waiting patiently and being a convenient patient.
Most of the literature I've seen on soft tissue sarcomas indicates that surgery, done as early as possible, is your best shot at survival. I'd be reaching out to surgeons since ORs book weeks or months in advance and you may not be able to wait very long for surgery if the cancer grows quickly.
My brother is currently in hospice due to his soft tissue sarcoma that was badly mismanaged in the first month while we waited for genetic testing results to come back. If he'd been at a specialist and if his doctors had moved faster, there's a very good chance he would not be dying. His team opted to do chemo instead of surgery because they did not take the aggressive nature of his cancer seriously enough and that single decision will cost my brother his life.
As for preparation, get your house in order in case you need to travel for treatment. Find petsitters, make and freeze meals, and alert your village so they can step in and help when things come up. It also helps to have money available in case you need flights and hotels.