R saw his Hemo-Oncologist yesterday after a recent bone marrow biopsy and more labs. When he first got diagnosed with primary myelofibrosis (PMF), he had several things that led to his diagnosis: the JAK2 gene mutation, a very high level (772) of the lactic acid dehydrogenase (LDH) enzyme in his bloodstream, a significantly enlarged spleen, low energy and unexpected weight loss. What he didn’t have was scar tissue in his bone marrow, a hallmark of the disease.

That’s no longer the case. R’s marrow now has significant scarring. They grade the level of scarring on a 1-3 scale. R is at a 2-3.

On a positive note, his hemoglobin went up, and the rest of his blood work looks stable—not that all his blood indicators are good, but they haven’t gotten worse since the hospital ran the last set of labs. If a person’s hemoglobin dips below 10, anemia will result. When it gets really low, symptoms can include migraines, extreme fatigue, weakness and shortness of breath. These patients become transfusion-dependent. R’s hemoglobin reached 12, which is low but not as low as in prior tests.

Given the progression of the disease with the marrow scarring, Dr. Halpern asked R to consider joining a drug trial from the Geron Corporation, a biomedical company located in California (headquartered in the Philippines). The drug is Imetelstat. The goal is to shrink patients’ spleens. R has been on two different medications, and neither has gotten the job done. His spleen is still much too large—approximately 21 cm when it should be 12 at most. The drug will not “cure” the PMF—that can only happen with a bone marrow stem cell transplant.

We learned that the spleen must be closer to a normal size for a stem cell transplant to be successful. When the time comes, we want R to be ready, so he must do what he can to shrink the spleen now.

We asked the doctor when a transplant could become necessary. She said, “Not likely in the next year, but probably in 1-5 years.” This is a catch-22. R doesn’t want to go through a stem cell transplant because of all the complications that can arise. Experience shows that people don’t return to “normalcy” for at least a year after transplant. On the other hand, we want R cured!

R will officially join the Imetelstat trial near the end of the month. It’s still a small study. Twenty-one participants worldwide will be in Phase 1, including R. The second phase will add 15 more. R will need 2-hour IV infusions of the drug every 28 days, frequent blood draws and a couple of MRIs. He’ll also need to keep a detailed diary of his symptoms.

The risks of taking Imetelstat are fatigue, low blood counts, anemia, nausea, diarrhea, fever, headache and altered taste. If symptoms are severe, they can try to combat them with other medications or R can withdraw from the study.

R is in good spirits. He’s a fighter with great hope for kicking this rare disease’s butt. Enrolling in this study seems like the right thing to do, whether it helps R or helps future patients with PMF.