I know this photo may not have much to do with this post but he’s cute and looks curious and a post is really much more interesting with a picture so there you go. Moving on. Since I was lucky enough to win the disease lottery and score a disease that only 4,000-6,000 people in the world have (the odds are about 1 in a million, how’s that for beating the odds), I am constantly trying to explain this unpronounceable disease to everyone. It took me months to figure out the real name for it and for the first week I came up with a plethora of incorrect acronyms for it. But these days, I have a pretty good handle on what this three letter disease that has changed my life is all about so I thought I’d share a summary and do my best to make it understandable to people who haven’t spent countless hours searching the internet for all things PNH related, as well as update where I’m at with this disease right now.
PNH is considered a bone marrow disease and develops after one’s bone marrow is suppressed for some reason or other. I myself do not know when this occurred for me. A genetic mutation occurs (this is not a genetic disease though) and the PNH cells begin to take over. The number of cells affected by PNH is measured in a test called Flow Cytometry and the percentage of PNH cells is called clone size. My clone size is roughly 70%. The PNH cells are missing the protein coating that normal cells have to protect them from breaking down in the blood stream, which is called hemolysis. Essentially what happens with hemolysis is that the blood breaks down within your blood steam and becomes kind of like garbage and creates a heightened risk of blood clots, which is the number one concern with PNH. The other main concern is that the blood levels drop because the blood is breaking down before it is supposed to. Less than 10 years ago, there was no real treatment for PNH available and life expectancy after diagnosis was 10 years. The field has jumped leaps and bounds since then and the old rules and expectations have flown out the window. The best form of treatment is a drug called Soliris, which is an infusion therapy like chemo that I get every other Friday. It is also the most expensive drug in the world at an average of $400,000 a year (like I said, this disease is a little like winning the lottery). Soliris works by blocking the immune system at the level that it causes hemolysis. I have been on Soliris for about a year now, and while technically it is working since I do not have much hemolysis, my blood counts are still very low without any explanation. Even within this incredibly rare disease, I don’t fit the mold. What can I say, I’m special like that. So these days we are trying an added iron infusion for the next 5 weeks along with b12 and procrit injections (which are supposed to force the marrow to produce more red blood cells). We are hoping that this will raise my blood counts as all three (platelets, white count and hemoglobin) have fallen to a level that is too low for comfort. For any of you out there interested in the actual numbers, right now my platelets are at 33,000, my WBC somewhere between 1.5 and 3, and hemoglobin between 8.7 and 9.7.
In general, my story with this disease has been lots of wait and see, which is the mode we are in once again. We are waiting to see if the iron and injections raise my counts. If not, then it’s back to the drawing board to see what else might work. As complicated as all of this has been, I have been blessed to remain relatively healthy through all of it. Besides feeling tired and achy sometimes, I’m pretty asymptomatic which is so fortunate. It helps that I have the luxury of being “retired” and able to simply focus on staying healthy. Being able to put my health first goes a long way with this disease I have found. So, for now at least, I am sick on paper but that’s about it. My prayer is that it remains that way and that the field continues to move forward with new and improved treatment options. Sorry if this was a little dry, or a lot dry for that matter. I just wanted to get the facts out there for anyone looking for them and provide a background for my story. If you stuck through this entire post, you are my hero 😉