Newly disgnosed with MDS

[Guy L]

I just signed up, so I thought this would be a good place for a first post. I got my official MDS diagnosis a month ago today (on June 20) following a biopsy and tests of marrow samples drawn last April. As probably most people here, this is a condition I had never heard about before. Just telling anyone about it draws the same blank. Thankfully the internet answered an awful lot of questions, but actual patient experiences can only be found on forums like this, especially for an illness that is rare enough, that your chances of personally knowing someone else with it are remote.

My first question is: how much time do people typically see between the first signs of the disease (usually from abnormal routine blood tests) to a formal diagnosis? In my case blood test results started to show lower levels of platelets and WBC almost 4 years ago (Sept 2021). My family doctor had me do blood tests every 6 months to see if a trend could be observed, and only got me to see a hematologist this last spring. My first meeting with him was a discussion of my previous blood test results, and he said "this looks like MDS", along with an explanation of what it meant. A month later came the biopsy and samples, and then the diagnosis 2 months later. Is this typical? In the reading I've been doing about risk levels, mean survival times, etc it always mentions "starting from the time of diagnosis", but very little about the typical time between the actual symptoms and a diagnosis, hence my question.

One last test result is still pending but enough is known to put me in the "low" risk group. I'm still learning a fair bit of the lingo from this forum and other sources, and everything is done in French here, though it is fairly easy to see the equivalent terms. I know I have ringed sideroblasts, my mutations are ASXL1, IDH2 and U2AF1. There is a chromosome test result still pending. There is a good cancerology team here in the Montreal region and they seem to have things under control, so I'm quite hopeful. Once completed, my test results will be looked over by specialists and a recommendation will be made about any treatment, or just close monitoring of my periodic blood test results to see if anything changes. I'm told that the relative stability of my test results is a good sign, and honestly I can't say I'm feeling any symptoms or anything unusual yet.

[Ruth Cuadra]

Hello, Guy. I'm glad to know that Marrowforums has already been helpful to you in gaining information about MDS and the wide variety of patient experiences with this disease.

When I was first diagnosed with aplastic anemia in 1996, I had been having symptoms of low blood counts for at least a year, but didn't recognize or attend to the issues. When I finally saw my doctor, he recognized my extreme anemia, ordered blood tests, and called me the next day to go to the hospital to consult with a hematologist. Boom! A diagnosis in about 2 days. Once I was able to learn a little about aplastic anemia, I began to question, as you are asking now, how long I might have had the disease. If the life expectancy for someone my age (I was 40 at the time), was 4 years, had I already used up 3 of them?? In the end, it didn't matter because I got the treatment and care I needed at the time of the diagnosis. About 18 months later, when my diagnosis changed to MDS, I had the same worries. Was I some years into a disease with a 3-5 year life expectancy? It was in the back of mind for quite a while, but again didn't end up making any difference in my treatment. (I had up with a bone marrow transplant about two years after my original diagnosis and this year am celebrating 27 years of good health.)

I think you are fortunate not to have symptoms yet and so, although the incoming test results are alarming, you and your doctors have time to decide on the best course of treatment for you.

[Guy L]

I think the 3 to 5 year expectancy has to be interpreted with caution. It is a mean, not an average. It would be a good thing for that to be pointed out a bit more strongly, for those who are less statistically minded. It is still a scarily small number though, and certainly stresses that this disease cannot be left unmonitored. The oncologist stressed that point quite well, saying I had a deadly disease that can usually be managed if any change is caught early enough.

The hematologist that did my diagnosis isn't the same one that will be following my case, because the first one was outside of my geographical area. I'm not too concerned (mainly because of my stable results for almost 4 years).

I'm 66, and have had a very stable health all my life. The last time I missed a day of work due to being sick was in 1985, and I have always had a bulletproof immune system. I never get the flu, never got covid, etc. We tend to take these things for granted, although I am all too aware that good health isn't a given. I lost a sister to breast cancer in 2012 and my brother to prostate cancer in 2020. Certainly makes you feel vulnerable.

[Guy L]

9 months have gone by since my initial diagnosis. I have a moderate-low risk factor. So far I have had three routine (every 3 months) blood tests to see the trends. White and red blood cell counts have actually increased slightly from those 3 years ago (we've been following my blood tests since 2021, and got diagnosed with MDS in spring 2025) and cells are now at the low end of the normal range. Neutrophilia is at 2.6, was as low as 1.44 a year ago. As I asked the doctor following my case, what we're looking for at this stage is both trends and stability. My readings do seem to be leveling off.

Platelets have been on a slow decline, and my last test just 5 days ago came in at 87, a new low. They were in the 160's 5 years ago, and been averaging downwards since. That seems to be my biggest cause for concern. Reading up on survival rates has been kind of discouraging, even though most texts about this point out that it is based on older data. I just can't seem to find updated information on this. The doctor seemed to suggest that the average expectancy for my risk level is about 5 years with no treatment, and up to about 11 years with the currently available treatments. That's sort of in the middle of what my mind considers both short and long. That would bring me to age 78, which certainly isn't considered old in this day and age.

There are no shortcuts to knowing how things will play out, every case is different. The hope is in the continued development of treatments for this rare disease.

[Meri T.]

Hello Guy L
I?m glad your counts are stable after nearly a year, though the platelets aren?t cooperating enough.( They never do !) I remember every 10 days I needed a platelet transfusion, was the time my hematologist decided to have the transplant talk with me and my husband.
I was around 50 then, when I was diagnosed, fortunately with no mutations, but like you, I didn?t have much symptoms when I was diagnosed. Just an annual checkup that saw counts spiraling downwards every year, until the Lows made the chart red, and gave the doctor my first referral to see a hematologist.

Since you are a healthy 66 year old, and with good doctors to care for you, I believe you will do well with your chosen treatment.
Meri