Looking for answers!

[lizab]

Hello, I am the mother of a 17 year old boy with a 3 year history of hypocellular bone marrow (30%), mildly low peripheral blood lines (WBC & RBC & normal platelets), low/no iron stores, decreased NK function, positive ANA, low C3 & C4 (no lupus clinical symptoms), only physical symptoms is mild fatigue. He has had 9 BMB's and a lymph node biopsy (because of weird enlarged lymph nodes). He has been to NIH and at the end of October we will be going to the Boston Childrens. At this point we have no answers to what could be causing his bone marrow failure. I am looking for anyone with similar situation and the path of there disease. Any imput would be gratefully appreciated.

[bailie]

Are any genetic mutations showing up in the BMBs? Any blasts?

[lizab]

No blasts and no mutations.

[Naive]

Did they do FISH or karyotype assay for mutations. FISH only searches for specified mutations, not all.

[uno99]

Those stats sound like me! Have you heard any answers yet?

[lizab]

No answers yet! We traveled from Ohio to Boston Dana Farber where we met with a bone marrow failure specialist and extensive genetic testing was done for bone marrow failure syndroms and I recieved an email yesterday stating all testing came back negative. They have done FISH testing but nothing on that as well.

I am kind of unsure of where to go or what to do from this point? I am waiting on a call from Bostons physicians to go over their plan....He currently sees a Hematologist at Nationwide Childrens in Columbus every 3 months and another BMB scheduled for December 28. I am amazed with today's technology no one can figure out what is going on with my child.

Do I stop doing BMB and back off on testing and watch and wait or do I remain aggressive and continue BMB every 6 months and bloodwork every month????

[Hopeful]

Hi lizab,

Although your son's cellularity is low, it sounds like his blood counts are staying stable but somewhat low. The remaining stem and progenitor cells must be doing a good job cranking out new cells!

Many of the doctors advise only doing a BMB if there is a change in blood counts. Given this, I think it would be reasonable to back off the scheduled 6 month BMBs unless his counts drop. (I am not an expert though. So listen to your doctors if they are advising otherwise.) Monthly blood draws are pretty benign. If something is happening, it will likely show up in the blood first. Maybe you can stretch these out over time, if he continues to remain stable. I've found that having less frequent testing actually lowers my anxiety, as I am not always thinking about this disease!

I hope things remain stable for him for a long, long time!

[medicalenigma]

Could you have his copper levels checked? It is an overlooked test for mysterious anemia and neutropenia with normal platelets.

http://www.bloodjournal.org/content/...o-checked=true

Full recovery seems to happen in a few months.

Originally Posted by lizab

Hello, I am the mother of a 17 year old boy with a 3 year history of hypocellular bone marrow (30%), mildly low peripheral blood lines (WBC & RBC & normal platelets), low/no iron stores, decreased NK function, positive ANA, low C3 & C4 (no lupus clinical symptoms), only physical symptoms is mild fatigue. He has had 9 BMB's and a lymph node biopsy (because of weird enlarged lymph nodes). He has been to NIH and at the end of October we will be going to the Boston Childrens. At this point we have no answers to what could be causing his bone marrow failure. I am looking for anyone with similar situation and the path of there disease. Any imput would be gratefully appreciated.