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Bone Marrow Failure Causes, treatment approaches, terminology, related diseases

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Old Fri Dec 11, 2020, 11:06 AM
David M David M is offline
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What in the world???

Well, I don't quite know where to begin...

Since about 2000, we have been monitoring my low blood counts. Through the years, I have had at least 3 Bone Marrow Biopsies, and untold number of CBCs... and even a few genetic tests. Doctors have concluded that I have Moderate Aplastic Anemia (AA). AA is a very rare disease.

Just this week, my brother (who is now 60 years old), after a BMB, was diagnosed with another very rare bone marrow disease -- myelofibrosis! He has only recently (after a bout with Covid) shown symptoms of this form of cancer. In fact, the tests he underwent in diagnosing and treating his Covid exposed the underlying issue of myelofibrosis -- otherwise he might not have realized until it was too late what was going on. I guess in this case, Covid did us a favor!

My question -- if you call it a question -- is this... how could this happen? How could two brothers come down with such rare blood diseases? And both of us were diagnosed in adulthood (I was probably 35-40 when diagnosed with MAA; he was 60 when diagnosed with myelofibrosis). Should we suspect heredity? Environment? Coincidence?

Also, we have a younger sister... should she be worried about also coming down with a rare blood disease?

I'm just a little bumfuzzled at the moment...

David M
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David M, reds/whites/plats slowly declining since 2000; hypo-cellular bone marrow; diagnosed Mild AA; low counts, but stable since 2009; watch and wait -- no treatments required to this point.
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Old Fri Dec 11, 2020, 01:24 PM
DanL DanL is offline
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David, I'm sorry to hear about you and your brothers diagnoses. I'll address the last question as it is easiest. The diseases are not hereditary. While it is a little unusual to develop maa later in life, it is not unheard of, and it sounds like you have had symptoms for 20 years, which would make the onset a very mild aa that progressed from what it sounds like. As for your brother, if he is around 60 years old, he is the poster boy for PMF. That disease tends to hit in the 6th and 7th decade of life and is pretty rare before that. In terms of rare disease. I understand the frustration and difficulty around it. My diagnosis of MDS at age 36 is extremely rare without prior chemotherapy. I calculated under 100 people in my age range in the US in the year I was diagnosed. My initial diagnosis of ITP was in error, because it was basically incomprehensible to the doctor that somebody my age could have it. MAA and PMF are both pretty manageable these days and we have some good treatments available to improve blood counts and improve quality of life. There is nothing easy or fun about having these diseases, but you and your brother have options and can both generally live a long time with the diseases if treated and get a good response. Rare blood diseases suck. I wish you and your brother well. Make sure you find centers of excellence for your treatment protocols. And get 2nd opinions until you are comfortable with treatment options and goals. Also, if you or your brother need help with drug costs, co-pays, etc, go to lls.org and apply for financial assistance. Do the same with your treating hospitals. Lastly, the forums aren't very busy these days, but there are still a lot of Cheyenne and former patients here to help answer questions as they arise. Use the resources, ask questions.
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Old Fri Dec 11, 2020, 03:25 PM
GoodDay5150 GoodDay5150 is offline
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Hi David. Dan already gave the same opinion and advice that I would give regarding rare blood diseases. I have been told by one doctor that there are sometimes contributing environmental factors in respect to some blood diseases. In my non-medical but real life experiences, it seems that MAY be true, but I can not say for sure. Someone I grew up w/ died from melanoma when he was abt 49. He was light skinned, got sunburned as a kid, lived in Colorado (a lot of UV exposure), but there are many people that fit that same description who are alive and well and much older. As they are defined, rare diseases are rare, unlike diabetes, heart disease, and cancer. Were you and your siblings exposed to something harmful as children? You probably don't know, and probably never will. With medical science being as good as it is, not every question can be answered. We all wish you luck in your treatment.


Mario
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Old Sat Dec 12, 2020, 12:32 AM
Neil Cuadra Neil Cuadra is offline
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David,

When family members get similar diseases, the question of heredity versus the environment versus coincidence is likely to come up.

Although the diseases aren't inherited, it's possible that certain people have genetics that leave them predisposed to (more vulnerable to) certain types of diseases, in ways that we don't understand. Even if it's not likely, we can't rule it out.

You will probably never know the answer for you and your brother. But it's only sensible for your sister to be vigilant (not panicked, just aware) because if it so happens that your family had some kind of environmental exposure or possibly a generic predisposition, then her risk level would be higher than the average person.

I know a family that had 3 family members with the same non-inheritable disease, without any known toxic exposures, so even that type of rare case is possible.
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Old Wed Jan 13, 2021, 02:55 AM
quantpsyc quantpsyc is offline
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Heredity

David, the latest version of the NGS chromosome mutation panel tests for a gene mutation in ddx41. Not alot of literature but there but it popped on my husbands POST transplant panel (was not included in the pre transplant panels!!) It appears to be associated with a hereditary form...and in my reading it seemed that there were different blood disorders within families. Look it up. P.S. My husband was an only child and only a couple of cousins. Only after her death last year did I discover his Mom had a bone marrow biopsy in her 60s and was treated for sideroblastic anemia. By the time Ed got sick her memory was pretty shot (90 years old) ...she never mentioned it.
Gosh!!
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October 2018 started Decitabine, "exceptional response", MUD HSCT May 7, 2019.
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Old Sat Jan 16, 2021, 08:25 PM
triumphe64 triumphe64 is offline
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Aplastic Anemia MDS Foundation supports myelofibrosis.

www.aamds.org

There is also a FaceBook group.
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