Trying to get a diagnosis

[rdavidp]

On January 12, we rushed my wife to the hospital because she was having pains in her right side and shoulder with difficulty breathing. A few days earlier, she was having situational dizziness. Hospital immediately starts checking for heart attack, but rules that out. In doing so, they find that all of her blood counts are "How are you even still alive" low. By their measuring, her wbc is not even 1, with normal range between 4 and 7. Her red blood count was 4, normal is in the 20s. Also her platelettes were a bit low too, don't remember the count. They immediately get the hematologist on call and he starts working with us to start testing for everything, and orders a bone marrow biopsy for that day. He doesn't have a long enough needle, so no sample. The next day he tries for the other hip and is able to get an aspiration, but not able to penetrate the bone enough for marrow. A week later on the 19th all the other blood tests for infectious diseases and other things come back clean so this has to be some kind of bone marrow/blood disorder. He does another biopsy that day, and is able to get a good bone marrow sample. The doctor also starts neupogen injections after this biopsy. He does his own work up and determines either AML or MDS, most likely MDS. He sends the samples to John Hopkins, which is not too far from us, to get their opinion. On Feb. 1, wife is still in hospital because she now has a bad cough and breathing problems, the hematologist comes back with the results from Hopkins, and they say it is AML. The next day, she is transfered to the leukemia ward at John Hopkins. That day as soon as she gets in, they take their own bone marrow biopsy. For the next few days, all the talk is about leukemia. Then on Feb. 4, the team of doctors come in and say that the diagnosis of AML may be been premature, and also the neupogen shots have skewed the results of their bone marrow biopsy. The team now says it could still be AML, but now looking more like MDS. We will need to wait for all the labs to come back, which I am fine with because I rather wait for the right diagnosis rather than going back and forth. As this week has progressed, they seem to be more sure that it is MDS that my wife has, but when I ask why they are more sure that it is MDS now they just say we can discuss the results next Thursday with Dr. Carraway.

Well, I am not too satisfied with that, and all I really want to know is what are they seeing in the test results that has changed their diagnosis. Is it difficult to diagnosis AML and MDS because the two seem to be similar? Is that the reason, if so just say so. Are there some kind of markers you see in MDS that you don't in AML, or markers that clearly mean AML? That is all I really want to know. Also since my wife is still in their hospital, why can't we get someone to talk to us about MDS instead of waiting until next Thursday. I know we won't be able to talk about my wife's specific case because they said they were waiting for more results, but just give us some information on the disease. I know we are dealing with the leukemia doctors, but can't they send someone up to just talk to us for a couple of minutes?

They also mentioned that my wife may have to undergo another bone marrow biopsy in the next week or two after the effects of the Neupogen have worn off in order to get the full results and diagnosis. That means we may not know if this is AML or MDS until the end of Feb., and her she has already spent one month in the hospital, and would have whatever disease for atleast a month and a half. If it is AML, we don't have that time.

What is the best way to ask the doctors what has made them change their diagnosis and seem sure about MDS while still waiting for the full results and possibly needing another biopsy, and actually get them to answer? Anyone else have this much trouble in getting diagnosed?

Meant to add that my wife is 42 years old.

[riccd2001]

Sorry to hear your wife has gone through so much in the last month. But confirmimg MDS and what type it may or not be is still not easily done.

I went through a similar sequence of testing - but NO TREATMENT whatsoever (IMO it sounds like the "...neupogen injections after this biopsy..." were premature). It took about 8 weeks for me to get a confirmed low-risk MDS diagnosis. This was in early 2008. One would think things could be confirmed faster now, but maybe the progess hasn't been as good as we expected.

[rdavidp]

Today I was able to get some answers from the resident doctor who came in to give us the results of a chest x-ray. He clearly explained why they are now confident in a diagnosis of MDS versus AML. Based on all the tests and symptoms that my wife has, she would either have AML or MDS. After taking another look at the number of blast cells, the high number that comes with leukemia is not there. She is under the threshold of what they would consider the line between AML and MDS. After he explained that, I feel much better about the diagnosis of MDS, not that I feel better that she has MDS because it sounds just as bad as AML, but better that this is the right diagnosis.

[mausmish]

I had a similar situation when I was diagnosed 2 years ago. My blasts from the first biopsy were 20% (AML) and from the second 17% (MDS). The label AML vs. MDS is somewhat arbitrary at this stage. Treatment options will most likely be the same. In my case, they started me on Vidaza right away. I was very fortunate to show improvement after only a couple of treatments. It bought me time to contemplate a bone marrow transplant (my husband and I were terrified at the prospect and I had no related donor). About 5 months later, we decided that a transplant was my best, quite possibly my only, hope for long term survival. I had consults at University of Maryland, Johns Hopkins, and Fred Hutchinson Center in Seattle. I opted for Johns Hopkins, just 29 miles from home and had my BMT 11/30/2010. I've done fantastically well and am so happy i had it done. Don't ever lose hope! My husband and I detailed our journey in our blog, linked below. The biggest source of comfort for us were the stories of those who had gone before us that we met here at Marrow Forums, particularly Ruth Cuadra (founder) and users DebbieW (her husband, Mike), Squirrellypoo, Flamingo Jim, and Laura. There are many, many others - too numerous to mention - with lots of wonderful information, encouragment, empathy, and humor. Best of luck to both you and your wife. It is a difficult journey but you are not alone.

[Neil Cuadra]

rdavidp,

I'm so glad to hear that you got your wife to the hospital in time despite her "how are you even still alive" condition. I know how frightening that is since when my wife was first diagnosed her doctor wondered how she was still walking around with such low counts. She too was in her early 40s and she's now an MDS survivor.

As you say, finding out that your wife is under the AML threshold is good news, relatively speaking. If you're looking for other silver linings, know that Johns Hopkins has experts in both diseases and that statistics repeatedly show that younger patients like your wife have better outcomes than patients in their 60s, 70s, and beyond. Most patients diagnosed with MDS or AML are in those older age groups.

I suggest that you get the free information packet from the Aplastic Anemia & MDS International Foundation (AA&MDSIF). If at some point you want to learn more about AML you can get information from the Leukemia & Lymphoma Society (LLS).

Keep asking questions too. You are doing the right thing to try to learn about these diseases and how to help your wife. As patients and caregivers we need to learn enough to be able to participate in the decisions our doctors are making on our behalf.

I thought about why the AML/MDS diagnosis can take so long. Checking for the presence or absence of chromosome abnormalities in the bone marrow and measuring the percentage of blasts would seem straightforward. However, with these plus many other factors involved, it's not that simple or straightforward. There's useful information about the diseases and their diagnoses on the Cleveland Clinic's website (see MDS page and AML page).

Possible reasons for diagnostic delays:

• MDS and AML are both syndromes that span multiple illnesses, i.e., diseases with subtypes. Two patients with the same diagnosed disease can have very different underlying disease conditions.
  
  
• There are multiple categorizations used as a basis for diagnosis of the two diseases, primarily the French-American-British (FAB) system and the World Health Organization (WHO) system. Under the FAB system, having more than 20% blasts in the bone marrow can indicate refractory anemia with excess blasts in transformation (RAEB-T), overlapping the range of AML.
  
  
• No matter what cutoff values you use (e.g., 20% blasts for AML), some patients will be on the borderline, perhaps falling under the cutoff in one test and over in another.
  
  
• During bone marrow biopsies, doctors collect only a sample of cells, so seeing a certain percentage of blast cells or certain chromosomal problems may not reflect the overall state of the bone marrow.
  
  
• Some bone marrow biopsies don't succeed, as you've experienced. Not only do they sometimes have trouble penetrating the bone, but when patients are hypocellular (too few cells in the bone marrow) the samples have fewer cells to analyze.
  
  
• These diseases can evolve over time. They don't always hold still while you try and match the symptoms to a diagnosis.
  
  
• A patient may have some other illness or health condition that make it harder to diagnosis the bone marrow failure. Doctors would need to recognize or rule out other conditions.
  
  
• Treatments, such as transfusions and Neupogen, affect test results.

I'm glad you've gotten past this hurdle, rdavidp. What do your wife's doctors now recommend?