change in diagnosis? :confused:

[lacanada1]

So I posted a few months back in the AA forum, I had low blood levels (but not too low) and was being treated with Prednisone and CellCept. Since then my levels have increased incrementally, and I am now at 12.3HgB, 126 platelets, 2.26 Neuts. My diagnosis has been some kind of hypoplastic anemia.

I was living overseas and have since relocated back home to California; and I spent yesterday afternoon with my new hematologist. Well, the folks here think I may have MDS instead, referencing some tear-shaped cells they saw in my blood films. They point to consistently high retic counts to discount AA. But they're not sure and they want to run some more tests and perhaps do a biopsy...in a month's time (after I'm tapered off prednisone/CellCept).

I'm just real confused (and scared), and the constant frustrating things going through my mind are:

1) Can't someone just decide what disease I have? Maybe it's something else completely unrelated, and

2) I'm in my 20s!! (waaaay too young for this)...can people my age even get MDS?

[Ruth Cuadra]

Welcome back to California, lacanada1. I'm guessing from your member name that you're in the Pasadena area. If so, I highly recommend going to City of Hope in Duarte for an evaluation. It is possible for young people to have MDS, so it cannot be discounted on the basis of your age alone. The presence of tear-drop shaped cells is an indication that something is going on in your bone marrow. A bone marrow biopsy (BMB) provides doctors with a wealth of information--much more than blood tests alone--on which to base a firm diagnosis. Although many people suffer through this procedure, it can be done painlessly and City of Hope is adept at keeping patients comfortable with conscious sedation. Don't let having to have a BMB be an obstacle to getting your diagnosis clarified as much as possible.

Regards,
Ruth Cuadra

[Marlene]

It's really unprofessional for your docs to make statements like that without anything to back them up. Tear-drop shaped red cells don't automatically translate to MDS.

Do you know what your iron levels are? Low iron can cause this. Also, find out what your B12, folate and B6 levels. Pernicious anemia can result in tear-drop shaped red cells. Get the specific numbers not just the response that they are "in the normal range". You need to compare your current results to past results. And, unfortunately, many docs are not up to date on the latest research regarding B12 and will assume that if you B12 is under 500, then it's OK. But the latest research indicates otherwise. If they have not check these, then tell them you want them checked.

Seeing that you are or were anemic, it's not unusual to have a higher retic count especially if your SAA is under control. Your body will produce more red cells to make up what you've been lacking. They should also check for PNH to see if your body is destroying the red cells.

Marlene

[ccartbmw]

Hi,
I recomend Dr. Paquett at UCLA. He saved my life and is an expert in this field. I was refered to him by Kaiser Fontana. Check out his bio on the UCLA web site. Hope this helps some.

Carol

[Marrowforums]

Originally Posted by ccartbmw

Hi,
I recomend Dr. Paquett at UCLA. He saved my life and is an expert in this field. I was refered to him by Kaiser Fontana. Check out his bio on the UCLA web site.

Dr. Ronald Paquette's profile.

[Hawaii Bill]

I also recommend Dr Paquette if you can get to LA to see him. My visit with him was very informative and helped me a great deal. It is really good to have multiple opinions about one's particular manifestation of bone marrow disease.

Dr Paquette recommended just using a high level of CsA alone to try to and recover the response I iniitially had to ATG. And it might just be working! If I can avoid another round with ATG and Prednisone, I'm all for it.

[lacanada1]

Hi Everybody, Thanks very much for your feedback.

A few answers in response to issues that you all raise.

- I'm in San Francisco actually, and I am being seen at UCSF (good guess on Pasadena though -- I grew up right by there!) It's a very reputable hospital so my assumption is that I'm in good hands. But I've only just begun there.

- I take Folic Acid and Vitamin B compound daily, and my levels are normal; they've checked me for PNH and Pernicious Anemia (both of which I don't have).

- I had a BMT back in January when I was living abroad. The report from that was that my marrow was slightly hypocellular with relatively normal hematopoiesis.

Any thoughts/ideas?

Really appreciate this forum, it's a relief to find others who have been (or are) understanding of all this...

[lacanada1]

Hi everyone

Fast-forward 3 years and a lot has happened. In the time since, my counts continued to improve - Hgb and WBC climbing to the lower end of normal. All had been fine. So good in fact, I moved to London -- I had a great opportunity at work and my partner grew up here, etc...so we moved. My doc at UCSF said it was fine for me to do. Well, that was about 2 years ago.

In the time since I was having blood counts monitored. I have a very active life with significant amounts of international travel for work. This year they started to decline progressively but slowly. Now -- as of this Monday -- my Hgb is 8.1. I had a bone marrow biopsy and aspirate a couple weeks ago. The results show MDS-RCMD. My hematologist here says it is a definite diagnosis, but that it seems to be impacting the red cells the most. I have no cytogenic abnormalities; he did all sorts of test including for Trisomy 8, etc. All these were negative.

What is scary now is that treatment is beginning. He wants me to get a blood transfusion later this week. This would be my first, and then beginning in the new year he wants me to begin on injections of red cell and white cell growth factors. He said he was looking at Lenalidomide as a treatment option and we would discuss in the New Year. Of course, I'm totally scared and overwhelmed, but I am not totally surprised. My questions are...

1) I'm young. 31 years old!! And I still have this nagging feeling that this could be AA rather than MDS. Anyone else have that feeling?

2) I'm in London now, and I wonder if anyone out there knows of any great specialists here? I am being seen my someone pretty good it seems, but it would be nice to know if there are other people out there too. For now, I intend to stay here -- I am being seen privately (not on NHS). I can't see if the care would be any different than back home in California, but I wonder if anyone has any insight into that?

At such a young age, I have so much of my life ahead of me, and just want to get this right and defeat it so I can live the life I deserve!

[Hopeful]

Hi lacanada1,

I would get that second opinion as soon as you can - before you start any treatments. (I don't consider transfusions treatments though.) Because of your young age, you could be an ideal candidate for IST if you do in fact have AA or low risk MDS without increased blasts or cytogenetic abnormalities.

An immune attack can cause dysplasia if left untreated. Young people with AA or low risk MDS have the best chance of responding to ATG/Cyclosporine. Check your flow cytometry results for a reverse CD4/CD8 ratio (low CD4, high CD8). Some of the more recent research shows this to be a characteristic of an immune system that is out-of-whack and may respond to IST.

[lacanada1]

Hopeful: Thanks very much for your reply. Very helpful (and hopeful!). So I am looking at my marrow biopsy report and it says that I have a CD4:CD8 ratio of 1:1.3. Does that mean anything?

I am going to get a second opinion. My mom is arranging for someone at City of Hope, when I am back home in CA over the holidays.

[Hopeful]

Hi lacanda1,

A normal CD4:CD8 ratio is 2:1.

Yours is *possibly* starting to reverse, since it is still about 1:1. I'll defer to the experts on this!

Here's a recent article that goes into the latest research on all of this:
http://pagepress.org/journals/index....r.2010.e1/1792

Going to City of Hope seems like a good move to get this all of this sorted out before you begin any treatment.

Best of luck!

[lacanada1]

Hopeful,

Thanks so much. I will discuss this with my doctor when I see him next week.

Just a general question to everyone -- how is one completely sure that it is MDS or AA? I am still struggling to accept that I have an MDS diagnosis. I think it's primarily due to the fact that I am young (31 yrs old now, first presented with pancytopenia at age of 28), seem to have no chromosomal abnormalities and have consistently remained below 5% blasts despite ever-so-slowly declining counts over the past few years. Are there any questions I can ask my doctor to get a better of idea of whether or not he is 100% confident in the MDS diagnosis -- that maybe there is a possibility that it is instead AA, pernicious anemia or another disorder?

Thanks everyone, and a happy new year!

Cheers

[squirrellypoo]

Omg! Another younger with MDS in London! Edit: and you're an expat, too (I grew up in PA but have lived here for ten years now)

Get yourself to kings college hospital, ASAP. Prof Mufti is one of the world's leading specialists in MDS, and Prof Marsh is the AA specialist. Get a referral to one of them immediately - they seriously know their stuff. I had my bmt at kings in 2009 when I was 30 and I have NOTHING but praise for everyone there. The NHS completely and totally saved my life. Go read my thread in the transplants forum if you want a play-by-play account.

Good luck!

[Susan]

Hi! You're getting good advise here. I agree you need a 2nd and even a 3rd evaluation at sophisticated centers. Whie I don't know a heck of a lot about MDS I can tell you was was misdiagnosed with MDS. Also no cytocgenetic abnormalties. It was baesed on initial hyperplasia, dysplasia and macro RBCs' That hem still thought was MDS after went hypoplastic. Other dxs were ITP and AA vs MDS. Had 2 recommendations for quick BMT-without a Dx. Shocking. Fed up went to the NIH, PNH/AA dx same day.

My regret is I went with Prednisone rather than ATG/cyclo. Now older and may be less effective. Very pleased did not go BMT route but was 45 at dx.
One thing I learned at an AAMDS Conference, as of a few yrs ago, AA and hypoplastic MDS can be difficult to distinguish. But the NIH did it in 1998 so you will get your answer too before long.