MDS diagnosis with DDX41 Germline and Somatic

Hi! @asarnesejr Congrats…these numbers look improved over last month! They’ve all pretty much recovered back to what they were previous to when you had the stomach issues on your vacation. Platelets are lagging bit but they are definitely on the rebound from being down to 67.

From my own experience, some of those genetic tests can take a really long time before the results are completed! So hang in there. Keep enjoying life! ☺️

Hi @vng Mmm, Miso! One of my favorites! Your husband starting out his morning with Miso soup is super! It’s such a healthy gut supporting food along with the sourdough bread! I start out my morning with a helping of Kimchi! Another good gut food. I agree with you whole heartedly, real food…not supplements! 🥰. Thanks for sharing!

As an update, today I went to see the Transplant Team at the Hospital. My MDS doctor scheduled it as an informative initial visit. Apparently, this visit is needed, as they are the group that searches the donor database for possible matches. Much information was thrown at me during our 90-minute meeting. Needless to say, I am very overwhelmed by how much my life will change and how much can go wrong during this process. I suppose I always thought that once I get through the long recovery period, and the new stem cells take, I would be able to resume my life with minimal complications.

According to the Transplant Team my IPSS-M score is at -2.3. Even lower if you take into account that my MDS is ddx41 driven and that the IPSS-M scoring system does not take into account ddx41 mutation. However, I was informed that the original paper for the IPSS-M scoring system DID consider the ddx41 mutation as well. They did not know why it had been omitted. They feel that if you consider the ddx41 mutation, my score would be even lower, proposing possible -3.3.

This is all so confusing and upsetting to me. On the one hand they say I'm lucky that I have a ddx41 mutation and that I'm at very low risk. However, on the other hand, they say I will eventually need a SCT and that my life will never be the same again. Also, donors are NOT checked for the ddx41 mutation, so I could get the same mutation again, but someone else's.

They couldn't speculate as to how slow progressing my MDS is and when I will need a SCT. How does one even begin to cope and not think about it while 'waiting and watching'?

Good morning, @asarnesejr. Well, my friend, you have a lot to chew on today after your meeting with the bone marrow transplant team. I know there was a ton of information tossed out to you yesterday and I’ll do my best to help you sort through it.

After reading through your concerns a couple of times I really think you’re most worried about what your life would be like after a bone marrow transplant. If all goes as planned, most of us return to a near normal existence.

From my own experience, my life has returned to, I’d say, 98% of my ‘normal’ life. I have developed close friendships with other BMT patients over the past 7 years, along with members here in MCC. Depending on where we are post transplant, I think we’re all pretty much just going about our lives as routine now. Certainly there are risks vs rewards that need to be weighed. There have been significant advancements in the prevention of graft vs disease complications since I had my BMT almost 7 years ago. So waiting to go ahead with this can have advantages.

However, I will say, that the first year post transplant is a lengthy recovery period often stretching into year two. Meaning fatigue can linger and recovery will involve of frequent doctor’s appointments and blood draws. If your risk score is super low, that means the likelihood of developing a more aggressive blood cancer remains low. Has your team discussed the possibility of other treatment options instead of a transplant?

Also, from information I’ve read, your DDX41 mutation has been recently linked to more a favorable response rates and long overall survival with chemo than with the allo transplant. My Mayo transplant doctor is also involved in cancer research. He and his cohorts have published papers on the DDX41 mutation and that was one of the findings. I think I’ve shared that information with you before. https://www.nature.com/articles/s41408-023-00818-6

There are other members in Connect who also have this mutation and have been referred to DDX41 specialist at Mayo. They’ve shared their stories with you as well.

@fortuitous posted this comment a while ago.
https://connect.mayoclinic.org/comment/1089183/
Along with @sherbs in this comment https://connect.mayoclinic.org/comment/1476612/

Honestly, if I were you, I’d just try to put this in the background and get on with your life. The term waiting and watching is anxiety producing. It’s like you’re just waiting for the other shoe to drop. Active surveillance is much more appropriate. IF, over the years, things change and you need treatment, THEN you will deal with it. People have BMTs into their 70s. But for right now, all this worry and stress is robbing you of some wonderful retirement years! It’s ok to get the information and a potential plan for the future. But from my own experience, live in the present! Each day is a gift and when you focus only on ‘what if’ then you’re losing precious moments.

@loribmt The transplant team did not discuss other options besides stem cell transplant. Honestly, it was 90 minutes of everything that will probably go wrong with the SCT. They told me they perform 150 SCT a year and I'd have a 50% chance of survival. Besides the chemo killing me, the stem cells may not take, I may have GVHT. Even if the SCT team considers it a success, I could end up on kidney dialysis, liver damage, heart damage (or attack), retina damage, and always more susceptible to colds and recovery from such.... just to name a few I could remember.

They really did not say anything positive about the SCT process or outcome. My wife was with me as a second set of ears.

Is this the reality of it? That once my numbers go low the SCT is prolonging my death sentence. Or is this the doom and gloom speech they have to give to cover themselves?

I'm even more scared than I was initially, and did not sleep much last night

@asarnesejr With what you’ve just told me about your visit with your potential stem cell transplant team, quite frankly I’d suggest getting another BMT team! The first red flag is they only do 150 SCTs annually. That’s not much experience on their part to handle some of the potential issues of transplant. You also need a facility where they have a deep bench of specialists if the need arises.

I did not get a gloom and doom speech from my team at Mayo. It was a solid plan, with the risks vs rewards delineated. I knew it wasn’t all sunshine and lollipops but my team sure didn’t paint the picture you got!
I had tests to make sure my body was capable of handling the conditioning and rigors of transplant with heart, lung, organ testing. I had mental assessments to make sure I was emotionally and psychologically fit to cope with changes. And tons of classes and meetings to know how to avoid infections, food choices during recovery and how to stay fit and healthy. I went in totally prepared and ready to take on my new life.

The survival rate for SCTs are much higher than 50% and yes, there is the potential for what’s called Graft Vs Host Disease (GVHD). But larger hospitals where they do upwards of 650 SCTs annual, have been using a newer protocol of drugs which can help prevent the worst of the gvhd manifestations. For most people there are minor issues and there are some people who develop chronic gvhd, sometimes serious. But generally there are treatments to ease the complications. Over time, typically conditions begin to settle down.

So yes, of course, there is always a risk of mortality or gvhd. But any of us could get hit by a bus tomorrow. Life holds no guarantees. That’s why having a bone marrow transplant isn’t something to be taken lightly. For most of us, the transplant comes at a time when we have no other option in front of us! If I hadn’t received the transplant 7 years ago, I would have been pushing up daisies from the underside a good 6 years already. So for me I jumped at the opportunity. It was a 2nd chance at life.

I really think that this discussion about having an SCT is very premature in your journey. You were diagnosed with low grade MDS with a mutation that deems it very unlikely to progress to a more aggressive form of cancer.
Plus, you haven’t even started any treatment yet that I’m aware of. There are many options available for MDS patients to help slow the progression or to help mitigate symptoms. Transplant can be arduous so those other options should be exhausted first before heading to an SCT. And often patients can receive those treatments for years!

If I remember correctly, you’re only 61 years of age. You’re not in treatment and low risk. For me, this is a no brainer. Just go out and live your life and stop focusing on a bone marrow transplant that may not even be necessary. You are not the disease. ☺️