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?