Struggling with decision to move forward with Allogeneic Transplant

Hi Folks,

Long time but following up on this... I'll post more in the DDX41 specific thread but the short version is that, after finally meeting with my doctors at Mayo Rochester, the most advisable course of action is to delay SCT until absolutely needed.

This fits in well with what I've read about DDX41 treatment - particularly for the sub-type of mutation that I have. So, for now, it's a few more rounds of Inqovi to improve my counts (one round has already done some good in that respect). Once there, we may be able to stop chemo and just monitor.

I've also began working with an integrative oncologist to see what other treatments might prove beneficial for MDS. There do seem to be a number of studies done that show promise in areas such as diet, intravenous vitamin c, maitake mushrooms, and green tea. Granted, these all may be somewhat marginal - but I'll take any edge I can get in keeping this at bay.

Of course, my doctors have said that there are no guarantees and that this could still develop into AML, but for now transplant isn't recommended as an immediate action.

To all out there considering or facing transplant, I can't recommend enough that you look for second and third opinions (especially from Mayo). This goes double if, like me, you have a relatively rare set of circumstances. The more rare your situation, the more important it is to seek out those most knowledgeable.

I wept openly when we were told my husband’s only hope for cure of his MDS was an allo transplant. I was unaware of recently advances in treatment. I got a lot of information and support from the NMDP (National Marrow Donor Program) including one on one sessions of counseling. I highly recommend contacting them.
My husband had his transplant in August and while we’ve had “bumps” we are profoundly grateful for this miracle. Best to you.

You will be in the best hands there. Both hematology and transplant programs are outstanding. My husband was diagnosed with high risk MDS about 13 months ago. We were referred to Mayo by his local oncologist and advised tgg gf at SCT was his hope for a longer life. At 74 with many other health conditions, it was no cakewalk. A donor was found and he had the transplant Aug. 22. Lots of twists and turns but we are both very confident we did the right thing.
Good luck to you, keep doing the research and asking all the questions.

I’m so glad you got your appt for Mayo! It’s my home away from home and you’ll be in the best of hands there! The hematology dept is 2nd to none!

If you’ve not been to Mayo before, here are a few links that might be helpful.

~Accommodation recommendations when coming to Mayo
https://connect.mayoclinic.org/discussion/what-are-your-accommodation-recommendations-when-coming-to-mayo/
~Your Tips on How to Get Off to the Best Start with a New Specialist https://connect.mayoclinic.org/discussion/your-tips-on-how-to-get-off-to-the-best-start-with-a-new-specialist/

Rochester is easy to navigate and so is the Mayo Clinic. The buildings are all interconnected with great signage for directions and wonderfully helpful people in blue jackets to make sure you get where you need to go!

Make sure you use your new Mayo number to set up your account on the patient portal. It becomes your lifeline for communication between the clinic and you. You’ll get updates of appointment scheduling, test results, doctor’s notes, etc.
You mentioned having only one appointment so far. It’s one of the amazing things about Mayo…you go in for your initial appointment with the specialist and then boom, they work their magic and you get dropped into the schedule for tests/appointments while you’re there! I call it being Mayo-naised.

If you have any questions don’t hesitate to reach out. Are you within driving distance?

Thanks Lori...

I'll reach out to @fortuitous and chime in on that thread.

I did just book an appointment for next month. Currently just one appointment scheduled but they prefer I stay for 3 days just in case they want to set up any other tests/appointments.

Planning for a visit to Mayo!

Hi @sherbs. The DDX41 mutation is isn’t well understood but my transplant doctor at Mayo-Rochester is one of several doctors there involved in a study of the DDX41 mutation. From what I’m understanding some patients with this mutation have better chances without the transplant.
We have another member in the forum with the same mutation who went to Mayo Rochester. I’d like you to meet @fortuitous. You can read through their discussion here:

Does anyone else have AML with ddx41 genetic mutation?
https://connect.mayoclinic.org/discussion/aml-with-ddx41-mutation-anybody-else-in-the-same-boat/
This comment discusses not having the transplant:
https://connect.mayoclinic.org/comment/1030574/
Knowing that you’re already considering a second opinion at Mayo, here is the link to their page for requesting an appointment.
http://mayocl.in/1mtmR63
You don’t need a referral but it can help to have your doctor’s input and mentioning the DDX41 mutation.
Have you tried using a referral?

Hi Folks,

I did meet with my team and we discussed many things.

Some background. I have MDS-EB1. It was discovered that I also have DDX41 mutation that is likely pathogenic. If not for this mutation, I'd be considered very-low or low risk depending on which scoring system is used. Unfortunately, that DDX41 mutation puts me in a category of unknowns. There just aren't a lot of cases like mine and DDX41 isn't considered in the scoring systems being used to categorize MDS.

I've done quite a bit of research on DDX41 that has given me pause and I did discuss that research with my transplant doctor. I think it may be unwise to make general claims on the forum about what is best for DDX41 patients but I will say I'm bit upset with my care team for not being fully transparent about the current research and instead wanting to start chemo as a bridge to early SCT.

My current transplant doctor says that she considers each patient an individual and that the data on DDX41 is limited and may not be statistically significant and may not apply at all in my case. I accept that to some degree but it's also very difficult to simply ignore what I've read and plow forward without more input.

What I have decided is that I need to seek outside opinions on this from those in the best position to advise someone like myself with this not-yet-well-understood mutation. Best place for that is Mayo and I'm trying to get in to see folks there but haven't found availability through their scheduling department as of yet.

Really appreciate the followup.

I do think that, at some point, SCT is in my future - it really is a question of when I think.

Hi @sherbs. I’m sure you’re anxious to find out as much as you can about your upcoming BMT. You’ve had some great information from @katgob, @deb913 and @mary612 (caregiver for husband) about their experiences with the transplant process and recovery.

Do you have any specific questions about what to expect?
Did you have your meeting with the transplant team this week?

sherbs...keep us posted.
Below is the study i was in.
Doctor it was under: Al Malki MM
Subject: Single Center Pilot Study to Investigate the Efficacy of Adding Itacitinib to Post-Transplant Cyclophosphamide as Graft-Versus-Host Disease Prophylaxis after Reduced Intensity Conditioning Matched Donor Hematopoietic Cell Transplantation with Peripheral Blood Stem Cells as Graft Source

Who knows what studies are offered, but sometimes just sharing them may give your doctor something to look into. They could offer up another one ifyou are blessed to be at a teaching research hospital.

No... Not yet.

I'm meeting with my transplant team next week to discuss it.

I've been doing my best to educate myself in the mean time on my specific mutation that is driving my disease.