u/Zealousideal_Wall694

Hello all

My dad was just diagnosed with MDS and of his bad mutations has two clones of ASXL-1. According to my research to date, this is an undruggable mutation… not much has been done scientifically to directly target this mutant.

Curious if anyone else has stumbled upon trials or any other promise in the direct treatment of this mutation.

I came across a Reddit thread (sounds like some greedy investors / big pharma people) indicating new trials for a Stella drug SLS009 has promise. Don’t know much more than that (link below)

https://www.reddit.com/r/sellaslifesciences/s/x2OG4Mb94w

Appreciate any other thoughts / knowing what others are coming across with regards to this mutation

Hello all,

My dad, age 67, was just diagnosed with MDS . He has some bad mutations ASXL1 (times two clones), U2AF1, PHF6, IDH2….

Only mildly low counts in all three lines and 3% blasts. Healthy and fit guy overall.

We are talking to top cancer centers about options and bone marrow transplant

I’ll be honest..,.we are feeling very concerned about the transplant option, as the more we read, the more complex and high-risk it seems especially given his age and mutations (increasing chance of relapse).

If anyone has experience with BMT or managing MDS with a similar mutation profile, we would really appreciate any insight or guidance.

Thank you all for your time and help 🙏

My dad was recently diagnosed with MDS and I’m still learning about the disease and what may have contributed to it.

We’re seeing Dana Farber soon to discuss treatment options including meds and possibly transplant and I’m trying to understand as much as I can before that appointment.

One thing I keep coming back to is the role of inflammation in diseases generally . My understanding is that many diseases start with some kind of inflammatory or cellular dysfunction process, and in MDS that seems to include some level of ongoing inflammation in the bone marrow potentially due to with triggers like prior chemo or chemical exposures that can damage DNA and disrupt normal cell function.

Things I’ve been reading about include red light therapy, acupuncture, diet changes, and certain supplements or herbs, though I know the evidence is limited and I’m not treating any of this as a cure. I’d really appreciate any insight, personal experience, or other approaches worth looking into.

Also I know this is a controversial topic and some people will come back and say “there’s no proof this works.” That’s okay….i don’t think our current scientific focus as a country really is on alternative remedies … the money is always in big pharma.

I’m mainly interested in hearing from anyone who has experience with MDS especially around inflammation, environmental triggers, and functional medicine/ complementary approaches that may help alongside standard treatment.

Hi all,

My dad age 67 was recently diagnosed with with MDS

He has

ASXL1 (×2)

U2AF1

IDH2

PHF6

Has anyone else had similar high risk biology at a similar age and did you have a BMT? Looking for any guidance and stories you have

Thank you 🙏

Hi everyone,

My dad (68M) was recently diagnosed with Myelodysplastic syndromes (MDS-spectrum disease) after years of low blood counts.

We just received his genetic testing results—- Mutations they found

• ASXL1 (x2)

• U2AF1

• IDH2

• PHF/PHF6

He also has chronic cytopenias (low WBC/ANC and platelets, mild anemia) and mild dysplasia, but no increased blasts (2%)

What we’ve been told so far:

• Not “low-risk” biologically due to mutations

• Not high-risk AML/MDS yet (no blasts, relatively stable counts)

• Disease appears driven by a clonal process rather than reversible causes

A rough estimate for years to live was around 5 years, 😔 but it seemed more like a general population-based estimate

Treatment problem:

Insurance is currently denying a medication because it is labeled as a “leukemia drug,” even though his hematologist says it is appropriate for his MDS and mutation profile. It’s $50k -80k a month

We are currently going through the appeal process…. Any insight on this is also appreciated.

What I’m trying to understand:

• How serious is this mutation combination?

- has anyone else had a similar risk profile who has survived it? This is really what I am interested in hearing. BMT looks like high risk from the stats I read online but I wonder if that’s because they are counting a population of more elderly sick people who drive up the mortality rate

• outside of BMT Any treatments that work well I should know about ?

• How often do insurance appeals succeed for off-label use of leukemia drugs in MDS cases?

Any insight from people familiar with MDS, hematology, or insurance appeals would be really appreciated. We’re trying to understand the real situation beyond the labels.

I’m absolutely broken 😞