10% cellularity - what to do now

[jojo]

Good morning. My son (13) had a recent bilateral bone marrow biopsy. It revealed 10% cellularity, moderate thrombocytopenia, as well as neutropenia and lymphopenia. However, his peripheral labs are holding steady at 1.9 wbc, .7 alc, 1.0 anc, slightly low rbc, normal hemaglobin, platelets 130,000, mcv 102.1. They continue to "bounce around" in this area.

The drs have talked about a possible bone marrow transplant should he go into crisis, but right now it's wait and see and frequent blood draws.

I am very concerned about his cellularity. What are the implications of having this low of cellularity????

He does have an underlying chromosome issue, but they are unsure if this is causing his bone marrow failure as there's nothing in the literature to support this.

He's tested neg for Fanconi's, pnh, immunologic causes, and even HIV.

My question is what should I be doing as mom? The dr is comfortable with the wait and see and in trying to rule out the causes, which they have done.

Should we seek a second opinion? If so, where? Our son has a very complicated medical history, including a seizure disorder.

Is it a good idea to wait for crisis? With his lab work being what it is, I know now wouldn't be a good time to do the transplant, but it's the cellularity that concerns me.

How likely is it that a crisis will occur given current cellularity but holding his own peripherally?

Somewhere I read that if you are hypocellular that it's hard to tell if you have MDS. Maybe I did not read that correctly. Anyway, the dr indicated he does not have MDS based on his bmb. Should I feel comfortable that the negative MDS result is accurate?

As for a possible transplant, we've tested our immediate family for a match. So far my result is the only one that's in, and I am not a match. Hopefully I'll match someone else.

When do we start looking for a match with others should our family's not match his? The dr is comfortable waiting on this, but . . .

And to confuse things more, in 2003 his cellularity was 30% They thought it was a site sample issue at that time and not a true representative of his cellularity. He also had a high mcv at that time, but they attributed this to the ketogenic diet used for seizure control.

His labs have slowly trended down since 2003, especially the wbc. Now, looking back, his bone marrow failure probably started back in 2003, especially given his recent bilateral bmb result, but we just didn't know it.

I know transplants are hard on everyone, and a transplant would be extremely hard on him given his underlying health conditions. I just want to make sure in the meantime we are doing everything we possibly can for him!!!

As you can see, we have a lot of questions. Thank you soooo much for your help. We truly appreciate it.

Wishing you all the best.

[squirrellypoo]

I'll let others more knowledgeable than me answer some of this, but you don't say where you're located - is it possible for you to be referred to an MDS Centre of Excellence near your for a second opinion? It sounds like the current team aren't even certain of the diagnosis, and a lot of the different MDS variants have very different treatment options.

I'm confused as to why they tested you for a bone marrow match - it's usually only siblings that could possibly be a close enough match...

[jojo]

Hi. Thanks so much for your quick reply and for the link. What a great help. We are located in Michigan, so it looks like we have an option to see one of the Centers for Excellence here. My son currently has his care at the U of M.

The dr believes he has AA, but is not 100%. She's indicated he will "declare" himself at some point. They do feel he has bone marrow failure. I would like to find out which grouping, if at all possible, especially if treatment options are different for each. Again, the 10% is very concerning to me.

If the bmb results indicate no MDS??????, could they have gotten a good enough sample to be sure of this? I will definitely read the info posted on the MDS site you provided.

His results indicated: Hypocellular, 10% cellularity. Decreased granulocytic:erythroid ratio. Erythroid Elements: Moderately decreased quantity, but with full spectrum of maturation and no convincing evidence of dysplasia. Myeloid Elements: Markedly decreased quantity, but with full spectrum of maturation and no evidence of dysplasia. Pancytopenia. Moderate thrombocytopenia with occasional large platelets. Absolute neutropenia and lymphopenia. Slightly decreased number of megakaryocytes.

As you can tell, I am new to all of the language and things to look for. I feel a bit lost . . . even though we've been on quite a special journey with our son all along.

As for why my husband and I were tested . . . The dr advised me that statistically speaking it is highly unlikely that we would be a match. I asked if it has happened, though, and she said yes. Then I asked to be tested. Rare-er things have happened, especially for my son (smile).

It sounds like you have been on a tough road yourself, but doing well. Great to hear!!!!

Thank you again for your help.

[Hopeful]

Hi Jojo,

Hypocellular myelodysplasia and AA are hard to distinguish between when there is dysplasia but no cytogenetic abnormalities or increased blasts. This is because getting a sense of the "significance" of the dysplasia is difficult in a hypocellular marrow. Your son's result don't indicate dysplasia, which is good. I'm assuming that your son's underlying chromosome issue is unrelated to MDS.

With AA, kids usually have a great response to both transplants and immune suppressant therapy. However, if your son does have AA, time is of the essence, so act fast. Get your second opinion ASAP. Research on line to find a center with someone that specializes in Aplastic Anemia (which is rarer), not just MDS. Also, there are EXCELLENT webinars on AA at the Aplastic Anemia and MDS international Foundation website at:
http://live.blueskybroadcast.com/bsb...T=944&CAT=1031

Another thing that I would recommend doing is a Google search on "Aplastic Anemia" and any medications that your son may be taking.

I wish you both the best!

[Jen B]

JoJo,
My son was 3 1/2 when he was diagnosed with SAA.
I was lucky that we had Kaiser and our doctor diagnosed him immediately. After researching, I felt that he had done all that seemed standard in our case. In my research though, I found that there are several doctors whose names stand out in the research of pediatric AA. You are very close to one of the best:
Dr. David Margolis at Childrens Wisconsin

He is very easy to talk to - I just got his number from the AA/MDS foundation. There are a few notable doctors nationwide. She gave me the number also of Dr. Neil Young at NIH and another at UCLA (but he really didn't specialize in pediatrics - saw him speak at an event). Dr. Margolis is VERY approachable. If you call him, he will call you back. He can't consult unless you go to him as a second opinion, but he will tell you what he thinks over the phone.

It made me more confident that I was making the right decisions for my son. Our doctor's brother had AA so I knew he was up on all the latest research. But, if your son's history is that complicated, you might just try and go to Dr. Margolis for a second opinion.

[evansmom]

Hi JoJo,

Sorry to hear about your boy. Jen has made a very good suggestion with regards to contacting Dr. Margolis in Wisconsin. He is one of the best when it comes to pediatric aplastic anemia/bone marrow failure and BMT.
We live in Ontario, Canada, and when my son was diagnosed at the age of 10 in October of 2007, I wrote him a letter. It was a shot in the dark but, like all parents, we were willing to do anything, go anywhere to get our boy better. Dr. Margolis called me the day he received my letter and that opened the door of 'off the record' communication and advice via phone and email that proved to be invaluable to me.

As it stands right now, your son's counts are safe, making immediate treatment unecessary but no one knows when or if that day will come when the last bit of bone marrow function quits and his counts drop, making transfusions and protective isolation necessary.

You do need an absolute diagnosis and treatment plan in place, especially given your son's other health issues.

I want to mention here that there have been links between bone marrow failure and some anti-seizure meds as well as other meds. Has your son's doctor considered this as a possible cause? I realize that you couldn't just stop his meds, but can anything be changed up just to see if anything improves over time?

Best wishes for some answers and a treatment plan.