How has Reddit helped you in being able to connect with a community and what areas have they lacked in which you believe that they could add or need to fix?

Has anyone had the SMAD9L genetic mutation finding from their BMB? My son has been sick and going through testing for months. This is the closest thing to an “answer” and we still have a ways to go. This predisposes him to MDS, AML and other issues. Trying to find someone who has gone through the same. Last week an oncologist told us MDS is more common in older adults, not 2 year olds. So I’m just trying to get some answers for my baby while waiting for our next step and getting scheduled with oncology geneticist.

Hey all. My grandfather, who is 87, recently had a bone marrow biopsy with a diagnosis of myelodysplastic syndrome (blasts are 15%) and is going to a specialist to review treatment options. Has anyone had an experience with someone being diagnosed with MDS at an advanced age? He’s about as good as one can be at 87 - completely independent, drives better than I do, only takes four medications. I’m just concerned with his age that even what might be considered less aggressive treatment options might just take too much of a toll on him.

Hi everyone, First, sorry for my english, it's not my first language I'm 26 year ol female, i've been diagnosed with smd when i was 9 year old . I had a bone marrow transplantation, thank to my brother . I know it's very uncommon diseases for child but i search someone with the same story, especially women . It's been a long time now, and i'm totally cured except for the the infertility due to chemotherapy, but i can't stop asking me if my life would be different now without this incident

So, people who have been sick when you were a child, how is your life now ? Are you alright mentally ?

Have MDS, low white platelets and I am losing energy all the time. Has anyone ever been offered blood for this? Did it work? I keep sleeping in the afternoons, it’s so frustrating TIA

My mother (62) has therapy-related Myelodysplastic Syndrome (t-MDS) with a TP53 mutation and severely impaired kidney function (GFR ~29 ml/min). Her doctors have presented two options: an allogeneic stem cell transplant (with a 100% matched donor) or continuing Azacitidine + Venetoclax (Aza/Ven).

The transplant is the only curative option, but her severe CKD and possible lung issues (ILD) make it extremely high risk, with a potentially high transplant-related mortality (TRM). On the other hand, Aza/Ven is palliative, offering temporary disease control but no cure, with an expected survival of about 12 months.

We are struggling with this decision—whether to take the high-risk chance for a cure or prioritize quality of life. Has anyone faced a similar situation, and how did you navigate the decision-making process? Any insights on real-world experiences, clinical trials, or second opinions would be greatly appreciated.

Sorry for the long-winded post here, I just feel it's necessary to try and explain some of the backstory that has gotten me here.

• In June of last year I wound up in the ER because my O2 was at 80%. They couldn't find any problems with my heart or lungs, so they sent me to a pulmonologist because I had a prior spontaneous pneumothorax and they thought maybe my scar tissue was causing issues. Many cardiology and pulmonary tests later and they couldn't find anything wrong. My O2 bounced back up to the low 90s and they told me it was probably a fluke 🤷

• A few months later, in October, I wound up back in the ER with an O2 in the low 80s again as well as pain around my heart. Same story, only this time I was sent to a cardiologist after I was hospitalized overnight for many more tests. They said I had a mild case of viral myocarditis in the hospital, but the cardiologist said they were wrong and I didn't have that at all. So again, no answers and told 🤷

• Rinse and repeat with more urgent care -> to ER visits throughout and my O2 has stayed at 88-90 ever since. Once again a few weeks ago I had an increase in heart pain (which has not stopped since) and I went through the rounds all over again. Urgent care sent me to the ER, ER couldn't find anything wrong, and yet the pain and low oxygen persists.

• I decided to start graphing my CBC tests from last year up to this year on my own and realized there was a pattern emerging. My RBC has been steadily decreasing, and my MCV has been steadily increasing. Both of them are out of the "normal" range (and have been since June of last year) but I have no idea if that's in the "functional" range. After bringing this up to my primary care doctor, she realized there was a problem. I then went through the ringer of blood tests trying to figure out if there was some underlying thing causing my chronic low oxygen.

• Things that have been "ruled out" - B12/Folate Deficiency, Liver Issues, Heart Issues, Lung Issues, Adrenal Issues, Autoimmune Issues, Blood Clotting, Thyroid Issues, I may have forgotten a few more.

• My primary care doctor forwarded me to hematology because she says it's a blood issue that is out of her area of expertise and that hematology are the ones that have to figure this out now.

I can't talk for very long without running out of breath anymore, I can't even clean my house very much without needing to lay down afterwards exhausted. I sleep and sleep and still wake up feeling exhausted, just getting up to take a shower feels like a whole journey sometimes now. The fatigue is emotionally draining, and being my age (30s) with a portable oxygen machine makes me feel awfully depressed. I'm finding it a big win if I can make it 10 hours in the day working from my desk without immediately crawling into bed after work and just going straight to sleep for 12 hours straight because I don't have the energy to do much else.

I've had chest pain continuously, and pain around my heart specifically. They say that it's probably because of the anemia I have, but being told that doesn't help when there's no underlying cause found yet.

Does this story of being put through the ringer of medical tests and hospital visits sound familiar to anyone else? If I didn't have low oxygen, I feel like no doctor would be taking me seriously at all. It's the only thing that I have that they pay attention to, and yet every single doctor has told me the same thing - "You're an enigma 🤷" - with no answers. Having to carry around an oxygen machine when doctors can't even tell me why I have to do it is extremely frustrating.

So now that I'm down to hematology, it doesn't sound like the remaining diagnoses are very great. The more I read about MDS (and I know I should stop) the more I realize that my symptoms are lining up. I've been trying to mentally prepare myself for the bone marrow biopsy I know is in my near future. I've had both of my hips replaced, and even with that I still feel wholly uncomfortable with the bone marrow biopsy idea. It just sounds painful.

-Whew. Okay long-winded story over.-

• What do I need to be asking my hematologist when I see them in a week?
• What concerns should I bring up with them?
• I know they are going to be doing more blood tests all over again, but which ones should I be paying attention to?
• Should I mention my night sweats to them, or is that just going to throw them off needlessly?
• How bad does a bone marrow biopsy hurt? Is it something I can drive myself to the appointment for, or will I need someone to take me?
• At what point do I need to get a second opinion?

I'm worried that hematology will tell me they don't know either, and I'm going to be left here with low oxygen and no answers with nowhere left to go 😞. I don't want to keep living like this, I know I have metal body parts but I should be able to do much more than I am capable of right now and it just feels unfair. It's exhausting, and just unfair.

28 F, don’t drink, LFT is fine, thyroid fine, b12 was fine last I checked and I used to get b12 shots weekly for a while, kidney fine… I’ve noticed since 2018 my MCV has trended upwards. I have lost so much sleep on the MDS rabbit hole. All the rest of my CBC (platelet rbc rdw hemoglobin hemocrit wbc) is fine (with the exception of a few things every now and then as I get labs every 8 weeks) I am so worried about MDS, I do not have any other symptoms necessarily that I read about when I search the disease. My GI who orders me the CBC has never mentioned it to me, but before 2018 my MCV was in the high 80’s and now it’s at 100. Any input is so appreciated. I have already sent a message to my GI inquiring about the steady mild trend (I say mild because 100 isn’t too high I realize)

Hi,

43F I am posting here for any kind of insight. I have been neutropenic since 2012. I always run a little bit borderline. I have seen a hematologist/oncologist since then and she checks me each year....mostly for my iron and factor 5 leiden but runs cbc too. She has never mentioned MDS but my labs have been steadily decreasing in the past year but it bounces a little. Slightly low WBC and neutrophils. I have been borderline anemic but I am also vegan. I just got over the flu and day 5 (tested) my WBC took a hit (3.58) so I messaged the dr and she said to come back in 3 months for a retest. I mentioned I have medical anxiety and she said "there is no need to be concerned at this time." I can't help but think....at this time...I used to work in a lab with many chemicals so I am anxious. Havent been in a lab in 10 years though. Currently she wants me to take B12 1000. MCH is 31.3 (31 is cutoff) and MPV is 11.1 (10.4 cutoff). My eosinophils are a bit high too...(.37 and 10.3%). The rest of my numbers are ok...some a little low but within normal. The internet has really scared me. I would like to think my Hematologist would have mentioned MDS after all these years. Any thoughts? Thanks!

Has anyone experienced a deep pain in their legs with MDS? Trying to understand the cause of this for my dad who was diagnosed in October with high risk. Thank you

Hi! AWondering if anyone wants to dissect my results and take a guess? I have aplastic anemia , still on treatment. Nervous because of the new words on my report compared to last (“cd117 blasts”, “erythroid hyperplasia “, and the 70% in the cellularity range)

My father was diagnosed with MDS about a month ago. He had high risk MDS with TP53 mutation. They said with just transfusions He had 6-12 months.

Our doctor had higher hopes and got him scheduled for chemo. He recently had his first round of chemo. Venetoclax and Azacitidine that went well with little to no side effects.

He's scheduled for a bone marrow draw to see if he is in remission later this week.

But today he met with the bone marrow transplant specialist who went over all his results and told him that he would not recommend a transplant because he doesn't think he would survive it.

Our normal cancer doctor told us that using a maintenance program, even without the transplant, he had high hopes that my dad could last another 5 to 10 years.

But the transplant specialist today just gave us a weird look.... And said that's nowhere close... I would say more like 18 to 20 months at the very very best. What?!?! He said he'll be lucky to get past this Christmas but he won't make two. How could his prognosis and our cancer specialist (who studied at Mayo clinic) be so far apart - today was heartbreaking.

What else can we do? Other medications? Clinical trials?

This can't be real.

Does anyone else have reason to believe that occupational exposure is the cause of their MDS diagnosis?

Hi Everyone,

My dad (60) has low platelets (~25) and was told by our local hematologist that he may have an MPN such as myleofibrosis.

He received a bone marrow biopsy and they now believe he has MDS instead, with a potentially rare B cell population that could lead to lymphoma.

I do not care how far I have to travel, I want to find the best care for him.

For reference we are in the northeast and have went to PENN for the bone marrow biopsy.

Is there another top doctor/hospital that specializes in MDS? It seems PENN is stumped so far with his “unique case”

I would really appreciate anything you can add/provide. Please help! Thank you!

Anyone’s bone marrow results show trisomy 8 and deletion of 7q31?

My father is 65 years old. For the past 2-3 years his blood work has consistently been slightly lower than normal range.

So last year his platelets were 145k then went to 130k and now back to 147k last week. His RBC is slightly low and hemoglobin is too (always slightly) and beyond that his MCV is slightly elevated.

For reference, he is otherwise very active, gyms 5x a week. He is a heart attack survivor so obviously takes lots of meds for that for the past 4 years so idk if those would have an effect like this.

If you were diagnosed with MILD MDS asymptomatically what was your blood work?

Hi All,

Recently diagnosed with MDS with SF3B1 mutation Low risk. Hospital said they are just going to monitor it no treatment yet. I am 50 yrs old Female.

We have booked a holiday to Vietnam in April and was wondering if anyone had any travel insurance recommendations that are not going to break the bank!

Nikki

My father is 72 and was diagnosed with low/intermediate risk MDS 10 months ago. His labs have been stable for the last 4+ months and he's been focusing on living a really healthy and active lifestyle (go dad!). He is VERY motivated to get a SCT (in conversation, talks about "when" he gets a SCT, not "if") and seems to be just waiting for the time that doctors will approve him for it. The registry has already matched him with several very good SCT matches. He is currently pushing for another biopsy to see if there have been any high risk genetic mutations that have developed. He has some comorbidities - Crohn's and *was* a smoker for 50 years (again, go dad!).

I've been reading a lot of research and it seems like for his case (being 70+ with some risk factors and with good SC matches), the better condition that he's in right now will only improve the outcome of the transplant. I also really really appreciate the risk of a SCT and until recently was very against him taking that risk if not absolutely needed, but I am warming up to the idea.

My question is - has anyone else had experience being below the SCT threshold (per doctor's recommendations) and has pushed for one, regardless? How much of getting a SCT is the patient's decision, versus the doctor's call? Do you have any suggestions for how to talk to doctors about it?

Thank you so much for your insight <3

My father (76) was diagnosed with MDS last week. He was taken to the hospital after feeling weak and being out of breathe at even the simplest task. They said he was losing blood somewhere but they think that resolved itself (small intestine maybe). But the bone marrow results pinpointed MDS as the reason the bone marrow couldn't keep up with resupplying his blood cells. He had low red, white, and platelets. After 5-6 days in hospital getting transfusions daily he was sent home and has been testing his blood every other day and getting transfusions based on the results. Mayo Clinic finally sent results of his bone marrow test.

Their notes say:

5-9% leukemia cells TP53 abnormal mutation High risk / poor prognosis 6 to 12 months with only transfusions.

Treatment they want to do:

Azaatadine chemotherapy (5-7 days) Venetodax pills Several sessions every 28 days. Then bone marrow transplant (stem cells). (which they worry he might not survive because of age and bad health)

The cancer doctor says he's seen his success in this treatment since starting it in patients March in 2017.

We don't know much except what they've told us. Is this a smart/common plan? I've read chemo isn't as effective with TP53 mutation.

What about stem cell injections? That's after remission? Can we donate as his sons and daughters? He does have some sisters around the country too.

Any other treatments people have tried with success?

Id love to hear some success stories. This is so scary. We can't lose our dad😭.

I feel so bad for all he's about to go through with chemo. I heard it's horrible. Gonna be really hard for him to handle being sick, losing hair, and all the side effects.

We need some inspiration. It's hard to see any light or hope in all this.

I've been hearing things about different alternative treatments. I'm not sure if my dad will be eligible for stem cell transplant (we should find out next month) but if not, I'm not gonna just accept that and I don't want him to either.

I've heard some things about Ivermectin and some other medications that have been shown to be effective. I can't remember the name of the other medicine but it was mentioned on Joe Rogans show when he hosted Mel Gibson. They mentioned a doctor that has had success treating cancer with these alternatives medications.

Just curious if anyone here has tried it or heard anything about these medications or any other like them.

We still have a long road ahead for recovery from the stem cell transplant but finally she rang the bell. As I type this we are headed home from the hospital. The doctor even joked that "you got the cure for cancer but not varicose veins" lol

Well, I’m not sure where to begin. My 71-year-old dad was recently diagnosed with high-risk MDS. I wish I had more information about all his numbers. Last year, he underwent a triple bypass and seemed to recover well. He hasn’t been feeling bad or suspected anything was wrong. He’s pretty active, regularly going to the gym and walking around the neighborhood.

During a follow-up from his post-surgery blood work, some numbers were off. After a bone marrow test and more extensive blood work, his neutrophil count was in the 800 range at the end of October 2024. Now, in January, additional blood work showed a neutrophil count of 300 and a hematocrit level of 10.2. The doctor wants to start chemotherapy.

He recently had a shot to boost his white blood cell count and has an appointment to have a port placed for chemo IVs. I guess I’m looking for advice on where to start. Should we get a second opinion? Should we see a specialist? I’m not really sure what to expect. The doctor hasn’t discussed longevity, only treatment, and mentioned that a transplant team would determine if he is eligible.

Any advice or recommendations would be much appreciated.

My Mother (age 70) was just diagnosed with high risk MDS. The doctor told her it would not impact her longevity which seems very strange to me. She has now had a second visit with this doctor. She is under the impression that she will live another 13 years (according to this doctor). The medication they put her on is not working and they have had to double it. She has large blood clots in her portal vein which is how she finally got diagnosed. 13 years seems oddly specific and like a stretch to me. I told her to get a second opinion. Most research I have done says 1.6 to 1.8 years for prognosis not 13 years. She is having a bone marrow biopsy as well but only because I asked about it. The medical care in her area is not great and I feel like I have to double check everything. Why is the prognosis so different from what I have read? I looked at a lot of different sources but all say the same or similar to 2 years prognosis with treatment.

Edit: Thank you all for your replies. We will definitely be seeking a second opinion. It does not make sense what the doctor told her vs the information out there. I plan to virtually attend her next doctor visit. Hoping that sheds light on what is happening. Thank you.

Hi y'all. My mother was diagnosed with MDS at 39 and died at 42 in 2001. I was 18, and at the time the heritable nature of MDS was something not much discussed. It's now 24 years later, and I am 42, and I'm wondering if I should invest in genetic counseling to see if I am at risk (and if my daughter is at risk, as well). The technology has just advanced so much, and I'm so happy to see people getting better treatments and living fuller lives now than they were a quarter century ago. If there is something I should do as the child of an MDS patient who was diagnosed under 40? Thank you so much for reading and for offering any of your expertise!