Summary: In response to shortness of breath and a dull chest pain when exercising, Jana was scheduled for a cardiac stress test. A routine blood test showed an abnormal white blood cell count that was diagnosed as the result of chronic myelogenous leukemia. She has started treatment with Gleevec which should control the disease for many years.
Monday June 2, 2010, was probably the most bizarre day in Jana's and my life together. Jana had been having difficulty getting a good, satisfying breath and had a dull pain in her chest when she exercised, so she went to the doctor in April. Her primary care physician didn't think there was anything significant going on, but she referred her to a cardiologist who scheduled a stress test that she went in for on Monday morning. Before the test, she had blood drawn. After the stress test the doctor said that her heart responded abnormally during the test, and that he would have to look it over and give her an analysis on Thursday. About noon the hospital called to say that her blood test was abnormal—too many white blood cells—and she needed to come in for a retest. We had planned to go in on Tuesday morning, but we were out in the afternoon, so we decided to drive on up to Round Rock and have her blood drawn. On our way home, Jana got a call from the hospital asking her to come back and see the cardiologist. The nurse said that she should bring her husband and perhaps an overnight bag in case she were admitted to the hospital.
We drove back to the hospital and the cardiologist said that her white blood cell count was almost 17 times the high normal level of 10,000. With an infection, the count might rise to 15,000, but Jana's was at almost 170,000. He said it looked like leukemia and took us over to the hematologist who had been looking at her blood test results throughout the day. She gave a tentative diagnosis of chronic myelogenous leukemia (CML) and arranged for a bone marrow biopsy for the next day.
We found it so bizarre and hard to believe that Jana would be diagnosed with cancer 11 days after I was. We kept expecting someone to say, "Smile, you're on Cruel Candid Camera!"
On June 16th we got the results of the bone marrow biopsy which confirmed chronic myelogenous leukemia, and Jana got a prescription for Gleevec. CML appears to be one of the best understood cancers, and is the first cancer that can be tied to a specific chromosomal disorder. At some point within the last year, an error occurred in Jana when a bone marrow stem cell was dividing. Chromosomes 9 and 22 broke during cell division and regions swapped positions. That is, part of chromosome 22 ended up attached to chromosome 9 and vice versa. This breaking and fusing (called a translocation) combined DNA from two different genes that created a new fusion gene that produces a faulty protein (enzyme). This particular translocation is called the Philadelphia translocation and the resulting chromosome is known as the Philadelphia chromosome in honor of the city in which it was discovered.
Normally, cells identify and repair errors in the DNA that occur during cell division, and when they cannot be repaired, apoptosis or programmed cell death is triggered and the cells die before they have a chance to replicate. In CML this process fails, and the cells do not die. The aberrant enzyme causes the cancer by stimulating uncontrolled cell division in certain white blood cells, hence Jana's high white blood cell count. These aberrant cells crowd out normal blood cells and impact the blood in various ways resulting in the disease. If left alone, CML will remain in a chronic stage for some time before progressing to an accelerated stage and finally to a fatal blast stage. Traditionally, physicians have had three ways to attack cancer. Surgery can be used to remove all or most of the tumor from the body. Chemotherapy can be used to kill fast-growing cells like cancer; however, some healthy cells like hair and bone marrow are also fast growing, and killing these cells has resulted in serious side effects. Finally, radiation has been used to kill cancer cells, but like chemotherapy, radiation can have serious side effects when it kills healthy cells. Now, however, as progress is being made in understanding cancer at the molecular level, targeted therapies are being developed that attack the cancer cells and have little impact on normal cells. CML is one of those cancers for which a targeted therapy has been developed.
CML’s aberrant protein has been studied and is well understood which allowed the development of Gleevec, a drug that binds to the protein and keeps it from triggering cell division. Gleevec also initiates apoptosis. The doctor expects that Jana’s blood counts should be normal within three months. Subsequently, the expectation is that all of the cells with the Philadelphia chromosome will die; however, she will need to continue to take Gleevec because the Philadelphia translocation frequently reoccurs without treatment. Sometimes the Philidelphia chromosoe develops new mutations, and Gleevec is no longer effective in halting cell proliferation, but luckily they have several second-line drugs that can bring it back under control. They will check her blood weekly for a month or so, and then every three months.
So far (three pills), Jana has tolerated Gleevec very well with no nausea, but we’ll have to see if she has side effects with longer exposure. The biggest shock from the drug was the price. Our copayment for the first month’s pills (30) was $1,256. When you add in what our insurance company paid, the cost is about $140 per pill. Fortunately, we should have maxed out our out-of-pocket expenses for this year, and insurance will pay for the pills for the rest of the year.
