← Return to MDS diagnosis with DDX41 Germline and Somatic

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Profile picture for asarnesejr @asarnesejr

@igorp My April 7th appointment is with the MDS doctor. I don't want to move it sooner because the results of my genetics test will be back for review on that date.

When I first started this journey I was seeing a hematologist and Anderson Cooper with all blood drawn at Labcorp. My second opinion was with the team at Penn Medicine with all blood drawn right on their campus. I have found that Penn Medicine has given me a sense of confidence in their professionalism.

My RBC went from 4.04 down to 3.48 over the last 2 months

My lymphocytes remained at 0.7 over the last 2 months

I will confirm on April 7th if a donor has been identified yet.

Any thoughts?

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Replies to "@igorp My April 7th appointment is with the MDS doctor. I don't want to move it..."

Hi @asarnesejr - yes, I have some thoughts:
1. Your low grade MDS with only germline and somatic DDX41 mutations looks very favourable in terms of prognosis and treatment.
2. However, for your level of blasts, your blood readings look low. I have comparable ones for neutrophils, monocytes and platelets, but I’m at a more advanced stage - AML (and more mutations too).
3. Moreover, in your case, not only myeloid lineage is adversely affected, but also the lymphoid one. So, both parts of the immune system - innate (including neutrophils and macrophages) and adaptive (including T and B cells) - are somewhat compromised. And now (hopefully temporary) reduction in RBC and haemoglobin (which can lead to mild anaemia) - this though can be also related to your levels of B12, folate and iron. These observations brins me to the next 2 points.
4. As mentioned before, you need to get clarity about your chemo treatment and HSCT (most likely unrelated donor given germline). You may or may not need it soon, but such clarity and readiness are important at this stage.
5. Given point 3, you might also need to rethink whether such endeavours like holidays in Disneyworld is a good idea. I have to say though that, to these days, I lead a normal life, including a number of very long distance trips. However, in my case, it was against my doctor’s advice (but he still was very helpful and provided me with the right antibiotics and other medicine given my need to travel).