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MDS diagnosis with DDX41 Germline and Somatic
For the last 6 months I've been going to a Hematologist to determine the cause of my low WBC, low platelet count and low B12 level (153) and a history of binge drinking (I've since stopped drinking). Normal Hemoglobin of 14.3. Also been on Clonazepam and Lorazepam for my anxiety for the last 22 years.
After 4 months of weekly B12 injections, my B12 came up into the 500 range, and my MMA level is in the normal. I was also prescribed Folate supplements along with two BMB 3 months apart.
After 6 months, all my numbers stayed the same: WBC 1.9, ANC 1.1 Platelets 192
My Hematologist sent me to an MDS specialist who determined that I have a low grade MDS with a DDX41 variant, both hereditary and somatic.
Recommendation is to wait till my Platelet count goes below 50 or my Hemoglobin level goes below 10 then go directly to a Stem Cell Transplant.
I am scared beyond belief. I am a 61-year-old white male. They could not give me a prognosis on the success of this procedure, or how they define success (6-months, 6-years, etc....).
The plan is I would have this procedure done before I need chemo, stay in the hospital for 1-month, then for 3-months on an outpatient basis go to the hospital twice a week. With a 1-year best case recovery.
Has anyone gone through something similar to this or can give me any information about this? Please any input would be greatly appreciated.
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Hi @asarnesejr, From what I’m understanding, your doctor is recommending a Allogenic stem cell transplant (SCT) or called a bone marrow transplant BMT)to treat your MDS which may be progressing.
With an allogenic transplant, you’d be receiving stem cells from a donor, essential getting yourself a new immune system with the goal of preventing further proliferation of the MDS. It does come with risks but many of us have gone through this process for AML, MDS or other blood cancers and have been given a second chance at life with this amazing gift
The one thing I would like to mention, from my understanding from a discussion with my transplant doctor, a SCT may not always be the appropriate treatment for the DDX41 variant; It’s uncommon with limited studies. So it’s highly important to have a consultation with a hematologist oncologist who has expertise in this. It might be worth a 2nd opinion.
I’m posting links below from two fellow members who also have the same DDX41 mutation regarding the potential for a SCT.
They were both seen by a specialist at Mayo Rochester.
The entire discussion is here: Does anyone else have AML with ddx41 genetic mutation?
Does anyone https://connect.mayoclinic.org/discussion/aml-with-ddx41-mutation-anybody-else-in-the-same-boat/
From these conversations with @fortuitous https://connect.mayoclinic.org/comment/1089183/
@sherbs https://connect.mayoclinic.org/comment/1218733/
If you are able to go ahead with the SCT, I’m here along with many others who have gone this path. We’ll help guide you along. There is a lengthy recovery time…being slow and steady. But there is life after the transplant! In June I’ll be celebrating my 7th re-birthday with a BMT. So try not to live in fear…instead, look forward to a future!
Do you live near your transplant center? Is this a larger teaching/research hospital?
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1 ReactionI believe I've advised this before and I'll advise it again...
Get an appointment with Mayo ASAP and get their recommendation. Stop screwing around.
As Lori said, DDX41 isn't something that is all that familiar to most Hem/Onc. DDX41 is complicated and encompasses a wide variety of different mutations. Some of those mutations warrant moving quickly to BMT, other variations do not.
On the advice of Mayo, I found that my particular variety of DDX41 mutation allows me to postpone BMT for now. Your case may be similar, or may be different. My original hem/onc wanted to rush me to transplant ASAP which didn't sit well with me or with the research I was able to do on my own. I'm very, very thankful that I went to Mayo for a second opinion and can't stress highly enough how important that is.
Before you do anything else, gather as much information as you can from the most knowledgeable people in this area (Mayo). The more information you have, I think the less helpless and frightened you'll feel.
It is likely that you and I both have a BMT in our future at some point. It's really just a question of 'if' you choose that path, and 'when' your body is at that crossroads. However, there is much to consider and having knowledge makes it easier to know what the right decisions might be.
-sherbs
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3 Reactions@loribmt I am currently dealing with Penn Medicine in Philadelphia. It is about a 2-hour drive to get there from our home.
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1 Reaction@asarnesejr @asarnesejr I wanted to make sure you’ve seen the reply from @sherbs regarding their experience with the DDX41 mutation and having a SCT. . Here is their reply: https://connect.mayoclinic.org/comment/1476612/
Because you have time before requiring the SCT and it is a procedure to consider carefully, it’s not a bad idea to get a 2nd opinion in cases that aren’t cut and dried.
If you’re interested in a 2nd opinion from Mayo here is a link to get you started. http://mayocl.in/1mtmR63
This may not necessarily mean a trip to the clinic but the possibility a tele-conference with one of the specialists.
As for the procedure and recovery for the transplant it can vary per person. I was 65 at the time of my bone marrow transplant for acute myeloid leukemia. Age can be a consideration but at 61, if warranted you’re still considered young enough for a transplant. I personally know patients who were in their middle 70s, now into their 80s and still doing well, active and enjoying life. However, before doctors consider a transplant other factors come into play, including age, co-morbidities, whether the patient is healthy enough to withstand the rigors of the pre-conditioning and transplant itself and mental assessment. There is the requirement usually to stay within a 30 minute radius of the facility for around 100 days. So there’s a time commitment and the requirement for a dedicated caregiver. You can read a number of stories, including mine, here:
My bone marrow transplant story; Will you share yours
https://connect.mayoclinic.org/discussion/my-bone-marrow-transplant-bmt-story-will-you-share-yours/
Do you have any specific questions about the transplant? Do you have siblings or children that might qualify as a stem cell donor if needed?
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2 ReactionsMy typo, my current Platelet count is not 192, but 92.
Also, additional data that I thought I should share with you. The MDS doctor I saw at Penn Medicine told me that when my platelet count trends below 50 (currently 92) or my Hemoglobin level goes below 9-10 (currently 14.3) that it is time to perform a stem cell transplant. Her position is that I would have a better outcome if performed before it progresses to AML.
She is not overly concerned about my blast count with the DDX41 mutation, or my WBC and ANC level. She feels my body has compensated for those since I rarely catch a cold.
Do her views seem legit?
From the limited past data that I've kept, she feels that my numbers started going down in 2011 when my platelet count was at low normal of 153. And again at 120 in 2018. Most of my blood work never included a CBC.