Jody's Disease

Jody has had for several years a disorder called Essential Thrombocytosis "ET" (it can also be known as essential thrombocythemia depending on platelet counts). "ET" is a rare chronic blood disorder characterized by (in her case) the overproduction of platelets (Platelets are small irregularly-shaped cells, which are derived from fragmentation of red blood cells. The average life span is between 8 and 12 days. Platelets play a fundamental role and are a natural source of growth factors. They circulate in the blood of mammals and are involved in the formation of blood clots) in the bone marrow. In some cases the disorder may be progressive and may on rare occasions evolve into acute myeloid leukemia or myelofibrosis. "ET" is one of four myeloproliferative disorders. "ET" is diagnosed at a rate of about 2 to 3 per 100,000 individuals annually. The disease usually affects individuals at an average age of 50-60 years old. It often goes undiagnosed as individuals die of other complications or diseases.

• The cells that circulate in the bloodstream (made mostly of water) are generally divided into three types: white blood cells, red blood cells, and platelets. Abnormally high or low counts of any of the three cells may indicate the presence of many forms of disease, and hence blood counts are amongst the most commonly performed blood tests in medicine, as they can provide an overview of a patients general health status. This test is known as a "CBC" (Complete Blood Count).

Jody was first diagnosed back in New Jersey in 1998 with an abnormally high platelet count. She had her first bone marrow biopsy there to see what was going on in her bone marrow and nothing was found to be wrong. Her doctor started her on a treatment that consisted of taking a few pills a day of Hydroxyurea and Anagrelide to manage her "high platelets". When she moved to Denver in 2006 she began working with a hematologist (Dr James Faragher) at Rocky Mountain Cancer Center, who continued to adjust her pill regiment with monthly CBC's. He told her she had Essential Thrombocytosis (ET). This was the first time she knew what disease she had contracted.



Jody's mother, Maxine had Polycythemia vera or polycythemia ruba vera a blood disorder in which the bone marrow makes too many red blood cells. Her father, Joseph has Spherocytosis, which is another disease of the blood characterized by the production of red blood cells that are sphere-shaped, rather than bi-concave disk shaped. Her mother required monitoring with occasional blood letting due to her disease, and her father needed the same monitoring with blood transfusions (typically every 3-4 moths) to control his disease. He just turned 94 years old and is still with us here in Denver. Her mother passed in 2001 due to Hepatitis C at 88 years old. There is no medical support that shows her parent's blood diseases can be passed along genetically to their offspring.

Jody needed her first blood transfusion the week we got married in May of 2008. Prior to that her pill regiment was controlling her blood counts. In April of that same year she had her second bone marrow biopsy, which came back negative for any disease.

Her monthly CBC tests went from monthly to bi-monthly as her disease went from high platelets to low platelets and anemia. She began to need blood transfusions every 3-4 weeks. These more frequent transfusions caused her iron (ferritin) levels to move up. Too much iron in your blood can cause liver or kidney failure as it hardens your internal organs. This excessive iron level caused her to begin taking a iron reducing drug. This drugs side effect can cause high kidney lab values (high creatine). High kidney lab values indicate the kidneys are not functioning properly removing toxic waste from her blood stream. This in itself can cause life threatening problems.

In November of 2009, Jody and I went to see a bone marrow transplant doctor to explore the possibility of a bone marrow stem cell transplant. This was our first meeting with Dr. Mark Bunvand. He explained to us the tremendous risk and side effects of a transplant. He told us he would not consider a transplant until there was some indication Jody's disease was progressing.

On February 11 Jody underwent her third bone marrow biopsy, and on the 17th Dr Faragher diagnosed her with "Post Esential Thrombocythemia Myelofibrosis".

• chronic idiopathic myelofibrosis (KRAH-nik IH-dee-oh-PA-thik MY-eh-loh-fy-BROH-sis) is a disorder of the bone marrow. It is currently classified as a myeloproliferative disease in which the proliferation of an abnormal type of bone marrow stem cell results in fibrosis, or the replacement of the marrow with collagenous connective tissue fibers.