BMB disappointment

Posted by sinojosvacios @sinojosvacios, Jun 23 10:52am

I've been on a 10 year medical journey trying to figure out the driver of my many systemic symptoms (namely, a hyperadrenergic POTS flavor of tachycardia, temp dysregulation), telangiectasia, livedo reticularis, and rare, microvascular liver abnormalities. I recently found out that my telomeres were in the less than 1st percentile which prompted a bone marrow biopsy to check for any abnormalities.

For additional context, I am 42 years old and my CBC has always been pretty normal with some occasional mild elevations in WBCs, platelets, and absolute monocytes.

I thought the biopsy would reveal something that would be THE definitive diagnosis I've been seeking, but from the amateur researching I've been doing on the results while I wait for my doc appointment, I am feeling disappointed. Whatever small abnormalities were found seem like they may be explained away by having an ordinary occult iron deficiency, having some as yet undiagnosable autoimmune issue, and being on mycophenolate for the past 2 years.

There are still some smear tests pending, but what has been found so far are:

Mild hypercellularity, approximately 70%
Mildly increased granulopoiesis
Mild left shift of granulopoiesis
Approximately 20% granulocytic dysplasia
Abnormal granulocyte nuclear segmentation
Clumped granulocyte chromatin
Granulocyte nuclear projections
Mildly increased megakaryopoiesis
Occasional atypical/dysplastic megakaryocytes
Occasional erythroid atypia
Monocytes described as prominent/accentuated
Small focal lymphocyte aggregate
Rare hemophagocytosis
No detectable marrow iron stores
No increase in CD34-positive hematopoietic precursor cells
No monoclonal B-cell population
No abnormal T-cell population based on surface-marker expression
No abnormal blast population identified

I'm feeling super pessimistic and want to cry ...like my hope has been shattered yet again...and I'm wondering if there really is any point in spending thousands of dollars to go to Mayo. 🙁

Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.

I'm so sorry for what you're going through. Every disease is bad; a mysterious disease is a curse.

I have never been to a Mayo facility, but because my oncologist is Mayo-trained, and because of what others have reported here, I'd say YES! It is absolutely worth it to have a Mayo consultation.

Will you get an answer to every question? Probably not! It's when we get sick that we learn the limits of medical science.

But Mayo is your best hope.

REPLY
Profile picture for janemc @janemc

I'm so sorry for what you're going through. Every disease is bad; a mysterious disease is a curse.

I have never been to a Mayo facility, but because my oncologist is Mayo-trained, and because of what others have reported here, I'd say YES! It is absolutely worth it to have a Mayo consultation.

Will you get an answer to every question? Probably not! It's when we get sick that we learn the limits of medical science.

But Mayo is your best hope.

Jump to this post

@janemc Thank you for your response and for trying to lift me up. It would be helpful if I could connect with others who have been seen in the pre-myeloid clinic at Mayo's MN campus to hear about their experiences in that specific office, but I don't know how to find them.

REPLY
Profile picture for sinojosvacios @sinojosvacios

@janemc Thank you for your response and for trying to lift me up. It would be helpful if I could connect with others who have been seen in the pre-myeloid clinic at Mayo's MN campus to hear about their experiences in that specific office, but I don't know how to find them.

Jump to this post

@sinojosvacios
You may want to look at the BMT discussion (bone marrow transplant) as that is the group of us undergoing either BMT or SCT (stem cell transplant) or CART. Many of us are myeloid. I have myelofibrosis diagnosis and am in the week of evaluation before my SCT. My diagnosis was relatively easy and fast once I did a self referral to Mayo Rochester. Before that the doctor I went to said let’s just wait and see how bad your symptoms become and we can get you a pill when they are too bad. Not an acceptable answer in my opinion. My Jak2V617F was a strong indicator and my doctor’s test led to answers and SCT while I am still very healthy which improves the prognosis by a lot.
Good luck,

REPLY
Profile picture for lorielLB @lorieliebrock

@sinojosvacios
You may want to look at the BMT discussion (bone marrow transplant) as that is the group of us undergoing either BMT or SCT (stem cell transplant) or CART. Many of us are myeloid. I have myelofibrosis diagnosis and am in the week of evaluation before my SCT. My diagnosis was relatively easy and fast once I did a self referral to Mayo Rochester. Before that the doctor I went to said let’s just wait and see how bad your symptoms become and we can get you a pill when they are too bad. Not an acceptable answer in my opinion. My Jak2V617F was a strong indicator and my doctor’s test led to answers and SCT while I am still very healthy which improves the prognosis by a lot.
Good luck,

Jump to this post

@lorieliebrock Hi, thanks for taking the time to respond. I didn't post in that group because I am definitely not myeloid - I'm not even sure I meet the criteria to be pre-myeloid. I didn't think my situation was applicable to that group.

REPLY

Best of luck getting a diagnosis and treatment.

REPLY
Please sign in or register to post a reply.