I procrastinated my way through undergrad and grad school, and so it was no surprise that the marathon is days away and I am still struggling with what I could contribute to the team’s blog. I texted my partner Dan to inform him of my writer’s block and he encouraged me to share what it feels like to live with a blood disorder that is literally one in a million. My first thought was “Oh yea, that’s right, this isn’t everyone’s normal.”
I was diagnosed with Paroxysmal Nocturnal Hemoglobinuria (PNH) in 2005.
I was twenty-one, and it was my senior year of college
PNH is a progressive acquired bone marrow failure disease. PNH patients’ red blood cells are prone to destruction by an individual’s own immune system, due to the absence of a protective protein on the cell; this destruction is called hemolysis. In PNH patients, hemolysis happens constantly and at high rates. As my Genzyme partner perfectly described in 26.2 Miles of Personal Transformation it’s pretty much the opposite of blood doping.
The range of PNH symptoms varies greatly among individual patients; however, the three main causes of symptoms are hemolysis; thrombosis, and low blood cell counts. Symptoms include: dark urine, extreme fatigue, dizziness, difficulty concentrating, headaches, difficulty breathing, irregular heartbeat, abdominal pain, kidney failure, jaundice, esophageal spasms, low blood counts, blood clots, an increased risk for infections, and end organ damage.
My diagnosis took about eighteen months, and included innumerable blood tests, and multiple bone marrow biopsies. The day that I was diagnosed, my hematologist came into the exam room and told me I had a medical condition that I could barely pronounce. I was given a folder of information and a week to think of questions before I would return. The first sentence, on the first page of information stated that the majority of individuals with PNH die within five to eight years of being diagnosed. I didn’t compose a list of questions, because I did not think that this was real; I became a master of denial and convinced myself that soon the doctors would realize that they had made a mistake.
I hated the fatigue, I still do. Initially, however, all my twenty-one year old mind could perseverate on was being angry that the fatigue was so unmanageable. Through high school and college I had competed in cross-country. Distance running takes strength and stamina, both of which had slowly been fleeting my body. I felt that PNH had robbed me of my passion: running.
Although I resisted allowing PNH to take space in my life, as my symptoms intensified, and the disease progressed, my denial bubble burst. I quickly realized that many well-intentioned medical professionals don’t know what the P-N- and H stand for; or I hear: “I read about this in med. school, but I was told I’d never see it.” I had no choice but to become my own best advocate.
My “new normal” consists of bi-weekly Soliris infusions, and patient advocacy; co-mingled with my full-time job as an adjustment counselor, and coaching high school Track & Field. Nine years post-diagnosis (that’s right, I’m 30 and I’m proud, take that PNH!), I still struggle with how to respond when people comment: “…but you look so healthy” I try to maintain that I have PNH, but PNH doesn’t have me.
Amanda with GRT-partner Dan