In May 2001, Barry Katsof was diagnosed with the rare blood disease paroxysmal nocturnal hemoglobinuria, more commonly known as PNH. Although the odds were initially not in his favor after his body exhibited numerous dangerous symptoms, Barry was able to receive therapy that ultimately allowed him to return to life as usual. Barry shares his PNH journey and how he overcame the obstacles that came with it below!
On what seemed like a normal day in May 2001, I woke up and was shocked to see strangely dark urine when I went to the bathroom. I realized that it was most definitely blood and so I immediately sought the help of a healthcare professional - little did I know this was the start of a long journey.
Any answers to what was wrong with me were few and far between. After seeing two different urologists and a kidney specialist with no diagnosis to show for it, I was frustrated and scared. I had undergone several long tests and yet everything had come back negative. Although no one understood what was wrong with me, I knew something wasn’t right, so I kept pushing. Sometimes as a patient you have to be your own advocate and I needed answers.
Finally, after two years of searching, one hematologist was able to provide me with a substantial diagnosis after detecting hemoglobin in my urine — I had paroxysmal nocturnal hemoglobinuria (PNH), a life-threatening blood disease with a yearly incidence of 1 to 1.5 in a million. Most often found in younger adults age 35 to 40, PNH is caused by mutated bone marrow stem cells. The condition makes red blood cells vulnerable to attack by the immune system, therefore making it difficult to replace them at the rate they are destroyed.
When I was diagnosed in early 2003, very few doctors were aware of PNH, let alone knowledgeable about how to treat it. In addition, there is a large range of symptoms that manifest differently in each patient. My doctors were nervous for me as some of my symptoms were chronic anemia and blood clots - a major cause of death among PNH patients. As my condition progressed, I became less and less optimistic. Though the average survival rate after diagnosis is 10 years, by 2007 I needed biweekly blood transfusions. While this was state of the art at the time, I was perpetually tired; I couldn’t walk or even make it through a dinner without difficulty.
Luckily by 2008, I started a new immunotherapy that turned things around for me – my energy came back and I started to live again. I just turned 70 this year and my life is just as full as it was at 50. I’m very active now and try to cycle and hike so that I can always live life to the fullest.
Although rare disorders can be overwhelming, I hope my story shows that there is hope and that perseverance is key. To help others with PNH, I ended up founding the Canadian Association of PNH Patients, which provides support and helps connect patients to doctors who specialize in PNH drug therapies. With the current advancements in healthcare, there are more and more treatments available to help those with rare diseases. Slowly, but surely, these new treatments are giving people their lives back. At the end of the day, remember to never give up hope!
Interested in learning more about PNH? Visit http://www.pnhca.org/ for more information!