What in the world???

[David M]

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

[DanL]

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.

[GoodDay5150]

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

[Neil Cuadra]

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.

[quantpsyc]

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!!

[triumphe64]

Aplastic Anemia MDS Foundation supports myelofibrosis.

www.aamds.org

There is also a FaceBook group.

[David M]

All,

I mentioned earlier that my brother had been diagnosed with myelofibrosis back in mid-2020. On July 21, 2021, he underwent a stem-cell transplant procedure in Nashville, TN, at the Sarah Cannon (aka Minnie Pearl) Cancer Clinic. He remained in Nashville for about 100 days after the transplant, and although it certainly was not an easy recovery, he did recover enough to go home after that.

His recovery was slow, but he eventually was able to get out and go places. He supported his daughter's softball team in her senior year of high school, and he was able to attend most, if not all, of the games. He was able to drive to various nearby places, go to church, eat at restaurants, do light yard-work, and had started to get back to "being himself" once again.

However, he never fully recovered his strength, appetite, energy, and muscle-mass lost during the stem cell transplant. During the transplant procedure and recovery, he had lost from about 185-190 lbs down to about 125 lbs. He had horrible mouth sores for much of the time that kept him from eating -- when he felt like eating.

He actually was able to celebrate living past the 1-year anniversary of his transplant -- and he seemed to be slowly recovering. However, he started having bouts of GVHD that still caused horrible mouth sores and other problems. He also lost his sense of taste for several months -- which didn't help him in his need to eat and gain back his weight. His doctors eventually put him back on JAKAFI, and perhaps other meds, to counter these problems.

After a short time, he started having odd symptoms. He started hallucinating on occasion, and his eyesight began to diminish. The doctors seemed to think these symptoms were within the range of symptoms one might experience on these powerful meds, but still, this was considered better than GVHD. As the symptoms worsened -- now including a sort of "goofiness" or "being high" aspect to his personality, which started becoming more extreme -- the family insisted that the doctors either take him off the meds or adjust them to a more appropriate dosage level. Something was defnitely wrong! The doctors finally decided to stop the meds and to take a closer look at his situation.

He checked in to Sarah Cannon Clinic in early October. The day before going there, he still could barely see, but he was doing well enough to be driving around his farm on a tractor. Shortly after checking into the clinic, his condition began to decline. Within a few days, he started sleeping almost all the time. Occasionally, he would awaken for short time, say a few words to family, and go back to sleep. He started waking less often and was in peaceful sleep almost continuously. After a few such weeks at Sarah Cannon, the doctors there were ready to give up and bring in palliative care!

The family was not ready to give up, and they did everything they could to have him transferred to Vanderbilt Hospital, just down the road. Finally, he was transferred to Vanderbilt, and at first, it looked like things would turn around. He hadn't spoken or been awake in several days, but after being transferred to Vanderbilt, he woke up and told his wife and daughters he loved them... he seemed be himself for a few minutes. Then he went back to sleep.

The medical teams at Vanderbilt worked feverishly and did everything they could to isolate the cause of my brother's trouble. They did repeated spinal taps, but these showed no sign of infection or of what might be going on in the brain. Finally, as a sort of last resort, they did a brain biospy. The MRI/CT scans had indicated some discoloration on and in the brain that appeared to be some kind of infection. Only by doing a brain biospy could they possibly identify the type of infection -- to determine how to possibly treat it. Unfortunately, the brain biopsy also showed no infection!

Sadly, my brother passed away at Vanderbilt Hospital a few days later (i.e. October 30, 2022) from a brain bleed. The doctors there and at Sarah Cannon never were able to identify with certainty what had happened to my brother's brain to cause his downward spiral. Biopsy tissue sent to the CDC was checked by them and results there were also inconclusive.

The only theory that has made much sense to me was that the JAKAFI (and perhaps other meds he had been given) used to counter the GVHD had lowered his immune system to the point that an opportunistic virus (PML, perhaps?) attacked his brain and did great damage. Then when the JAKAFI (and other meds) were stopped, his immune system returned and destroyed the GVHD. But by this time, the damage to the brain had been done; the discoloration in the scans was not showing "infection," it was showing the damage done by the earlier virus attack. Well, that is just a theory, but it fits the evidence, as far as I can see.

I just wanted to give you all an update. Sorry for the sad story; but it was a sad and difficult time for us. Please keep my brother's family in your prayers.

in Him,
David M

[Hopeful]

I am so sorry for your loss, David.
You are in my thoughts are prayers during this difficult time.

[Marlene]

I so sorry to hear about your brother. Our thoughts and prayers are with you and your family.

Marlene

[triumphe64]

I am so sorry for your loss. I hope the doctors can learn from all of this.

[David M]

Yes triumphe64, I completely agree! I hope the doctors are able to learn from this whole experience, and I hope they can ultimately determine what went wrong to possibly prevent it from occurring in the future.

We feel very disappointed, in some ways, that my brother survived some of the most difficult times during his transplant ordeal to then be snatched away when it seemed he was on the verge of a more complete recovery. Maybe his recovery wasn't going as well as we thought all along? We just don't know.

Could his latest round of problems have been detected earlier and corrected? Were the doctors not paying attention to possible problems like this when the patient reported some of the odd things that were starting to occur (eyesight problems, hallucinating, personality changes, etc.)? Or was this some kind of one-off unique situation that has never happend like this before? Was there anything that could have been done differently?

I guess we'll never know the answer to some of these questions. Maybe some of you on this forum who have had stem cell transplant experience or knowledge might have some insights.

[Meri T.]

David,
I am so sorry for your loss. May your brother rest in peace. You and your family have my prayers.
I remember after transplant, when GVHD flared, and the doctor trying to prescribe or taper the meds for my GVHD, it was really hard for me. And every patient is different, so I think the doctors are still learning every time they meet a new patient, especially after transplant.
I'm sorry to hear your brother had hallucinations and couldn't wake up much. I know he is in a better place now.
Take care of yourself,
Meri