MDS diagnosis with DDX41 Germline and Somatic

Posted by asarnesejr @asarnesejr, Jan 7 7:10am

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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Profile picture for asarnesejr @asarnesejr

Went today (April 7th) to my MDS specialist to review the results of my genetics test and routine bloodwork. Unfortunately, after 9-weeks the results of the genetics test have not arrived.

However, since my post Disneyworld stomach virus (2nd number), are listed today's numbers (3rd number):

RBC: 4.04 to 3.48 to now 4.05
Platelets: 92 to 67 to now 83
Hemoglobins: 14.2 to 12.2 to now 14.4

WBC: 1.9 to 1.6 to now 2.2
Neutrophils 1.1 to 0.8 to now 1.0
Lymphocytes: 0.7 to 0.7 to now 1.0

For those that have been helping make sense of all this I have been diagnosed with MDS with a ddx41 (R339C) (VAF - 53%) mutation and a somatic missense ddx41 (R525H) (VAF - 11%) variant.

Can anyone help me make sense of all this?

Thank you so much in advance....

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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! ☺️

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Profile picture for vng @vng

@loi just want to put in my 2 cents worth here .
My husband drinks a small cup of miso soup every morning . It has helped him a lot with his GI tract . He is also on sourdough bread .
Hope these hints help some patients . These are real foods and not supplements .ribmt

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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!

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