My diagnosis with Paroxysmal Nocturnal Hemoglobinuria (PNH) was a lot to handle, as is any diagnosis of any kind. I could talk forever in circles about the experience of my diagnosis and how it changed everything for me. For the beginning of my story, I will specifically focus on my medical diagnosis of PNH.
Here are the symptoms I was showing before my diagnosis: I was exhausted, all the time. I could not do any athletic activity without being incredibly shaky for hours after, sometimes having to lay around the entire next day. I can remember lying on my couch after surfing and thinking if I stood up my legs wouldn’t be able to hold me up. Dark urine, I mean dark as in black. This happened to me twice before I was diagnosed. I would get insane abdominal pain at times, similar to cramping in the abdomen. I had a very yellow tint to my eyes and pale skin.
I’ll start at the beginning. In early 2008, at 19 years old, I began to experience overwhelming exhaustion, so I visited my physician. I was diagnosed with mononucleosis. I took it easy as the doctor recommended, but I never felt normal again. In the summer of 2008, I was admitted to the hospital with dehydration and heat exhaustion.
Upon drawing lab work the doctors found I was slightly anemic, with a hemoglobin somewhere around 11gm/ dL. Hemoglobin is the part of red blood cells that carries the oxygen throughout the body (Cleveland Clinic, 2018). Cleveland Clinic (2018) defines normal range for hemoglobin in males as 14.0-17.5 gm/dL, for females 12.3-15.3 gm/dL. During the hospital stay, either night one or two, I woke up at night to urinate and my urine was black (this is the first time that had ever happened to me). It was terrifying.
The physicians told me due to my dehydration my body had broken down muscle and blood cells; they monitored my kidney function, collected 24-hour urine, and gave IV hydration. After the stay, I was even sent to an oncologist/hematologist to follow up on my anemia. I remember the consultation with the oncologist, I remember being told I was anemic, but I did not have anything to worry about, no cancers, no blood diseases.
In discussing this with my mom while writing this, she stated that the hematologist I had seen monitored my blood counts for a few months and that he had determined my levels lived in this lower range (I did not remember this, however being curious have reached out to his office for records to see exactly what my diagnosis was— will update when I know more). Let’s stop— anemia, black urine, exhaustion. Did I have PNH in 2008? I would bet so.
After my symptoms continued over the next few years, I saw multiple doctors. All the tests came back negative, except for my primary care physician diagnosing me with hypoglycemia and anxiety. Oncology- slightly anemic, Cardiology- normal EKG, normal stress test. By 2010 I stopped seeing doctors, I pushed through. When I felt like I couldn’t stand, I told myself it was just anxiety. When I felt like I couldn’t exercise, I told myself I was weak and kept going. If someone else could do something, I could do it too. I spent many days keeping up with friends, and many of the next days recovering in bed.
Fast forward to April 2014, my wife and I were getting ready to start travel nursing, and for our new jobs we had to get physicals. Our physician ran lab work that showed my hemoglobin was critically low at 7.7 gm/dl. Remember that Hemoglobin is the part of red blood cells that carries the oxygen throughout the body (Cleveland Clinic, 2018). And also remember that the Cleveland Clinic (2018) defines normal range for hemoglobin in males as 14.0-17.5 gm/dL, for females 12.3-15.3 gm/dL.
Welp! Now there was a clear reason why I felt so horrible all the time. My body was working with much lower blood counts than it should have been. I was scheduled to see a GI doctor and a hematologist. Initially, my physician thought maybe this was GI related. I had a stressful job, drank coffee, and did not sleep as much as I should so the thought was maybe I had a slow bleeding ulcer? I also remember them thinking possibly celiac disease?
My hematologist diagnosed me with iron deficiency anemia and started me on folic acid and iron. I started taking the folic acid and iron right away. He was sure that soon we would see a boost in iron levels, which would help to create more blood cells, and then blood counts would normalize. I had an EGD/ colonoscopy done which showed that I had no signs of bleeding and no celiac disease, so iron deficiency anemia was the diagnosis.
After a few weeks on the iron, my hemoglobin was steadily going up and we were pleased. About 4 weeks after starting the iron, I woke up to get ready for work and urinated black. I notified my hematologist. He had a list of labs he wanted drawn immediately. I had my labs done that day, a Sunday or Monday.
That Thursday, May 22, 2014, I was working (my wife and I are nurses). It was towards the end of my shift and my wife happened to come and check on me. My doctor called while my wife and I were talking, he has an answer to all of this. It’s Paroxysmal Nocturnal Hemoglobinuria. Right away, I think, “awesome! An answer!” I was relieved. I then googled “Paroxysmal Nocturnal Hemoglobinuria” as he began explaining the disease.
My heart sank in disbelief. The only cure for PNH is a bone marrow transplant (Johns Hopkins Medicine,n.d.). Immediately I came upon information regarding the lifespan of a PNH patient. This narrative has changed over the last 6 years as more treatments are tested and one more medication (Ultomiris) has been approved for treating PNH. At the time of my diagnosis, there was a lot of as my physician says, "inaccurate" information regarding life expectancy of PNH patients, since so much information online referenced patients living with PNH before treatment with Soliris existed.
I decided while writing this that I would Google “PNH Patient Lifespan” and see what I found. The information I found at Johns Hopkins Medicine(n.d.) stating “the median survival after diagnosis is 10 years" is similar to what I initially read the day I was diagnosed; however, Johns Hopkins Medicine (n.d.) continues the same sentence to say "however, now that effective therapy exists, most PNH patients should be able to live a normal life expectancy". According to the Aplastic Anemia & MDS International Foundation [AAMDSIF] (n.d.a) PNH patients “will soon have a lifespan that is normal compared with people their own age”. Six years after my diagnosis, I am excited to post this information regarding current PNH life expectancy because the experience and fear of reading what I did that initial day defined my life and bred fear for a long time.
Remembering most of the initial conversation of my diagnosis is a blur. At the time it was all white noise and disbelief. Questions and connecting dots. My physician was patient and explained the PNH diagnosis inside and out. He answered every question my wife and I had. After a solid 25-minute phone call that night, he asked us to come to his office the next day. There, we sat for another hour and a half and reviewed the disease extensively. These were questions I had for my physician at the time of diagnosis and I have answered them below.
- "What test was done that showed that I had PNH?" PNH is diagnosed using a blood test called flow cytometry. AAMDSIF (n.d.b) explains that flow cytometry is the "gold standard" for diagnosis as it is able to identify the missing proteins on a patient’s blood cells. (I encourage everyone reading this to research flow cytometry and how it works, it is fascinating.)
- "Have all of my blood cells mutated into PNH cells?" My physician explained that the percentage of cells in my body which are missing proteins are referred to as my PNH Clone Count. A PNH patient's clone count can vary from 0.01 %- 100% (PNH National Service, 2020a). My PNH clone count is in the high 80%. According to the PNH National Service (2020a) the PNH clone is accurately determined by using flow cytometry to measure the percentage of the patients PNH granulocytes as these cells are not affected by hemolysis like the red blood cells are.
- "I read that PNH can cause blood clots?" Yes. Per the AAMDS (n.d.d) at a minimum one of three PNH patients will suffer from blood clots. The PNH National Service (2020b) states that half of all PNH patients will suffer blood clots and per Johns Hopkins Medicine(n.d.) blood clots are the leading cause of death in PNH patients. Patients with PNH form blood clots due to what researchers believe are abnormally sticky platelets (AAMDSIF, n.d.d). However, both Johns Hopkins Medicine (n.d.) and the PNH National Service (2020b) state that treatment with Eculizumab (Soliris) reduces risk for blood clots in PNH patients as well as other complications caused by PNH! If you didn't know already, Soliris was the first drug approved to treat PNH in patients by the FDA and the EMEA until 2018 when the longer acting complement inhibitor Ultomiris was approved by the FDA for PNH treatment (AAMDSIF, n.d.e).
After explaining and answering our questions my physician set out a plan for what was to come before starting treatment for my PNH. First, I would need a bone marrow biopsy to confirm that I did not have aplastic anemia along with my PNH. Both PNH and Aplastic Anemia are bone marrow failure diseases, and per the AAMDSIF (n.d.c) 10 of every 100 aplastic anemia patients will develop PNH, as well some with PNH will develop Aplastic Anemia. According to Johns Hopkins Medicine (n.d.) "up to 30% of newly diagnosed cases of PNH evolve from aplastic anemia". The bone marrow biopsy showed I do not have aplastic anemia.
After completing my bone marrow biopsy, my physician recommended that my wife and I travel to Duke University to consult with a PNH specialist. During this consultation, the specialist reviewed my lab work, answered any questions and gave his recommendations for beginning treatment. His recommendation, Eculizumab (Soliris) was at the time the only approved treatment for PNH. Soliris reduces the breakdown of a PNH patient's blood cells by blocking the complement system, which is responsible for the hemolysis in PNH patients (AAMDSIF, n.d.d) After completing a loading dose schedule, Soliris maintenance dose is administered every fourteen days intravenously (PNH National Service, 2020). We would return home from Duke with the plan to begin treatment with Soliris.
Before beginning Soliris—
- Vaccinate with Meningococcal Vaccine— Per the Centers for Disease Control and Prevention[CDC](2019) complement inhibitors including Soliris increase a patient's risk for meningococcal infections 1000 to 2000 times, so patients must be vaccinated two weeks prior to starting treatment to protect against meningococcal disease. If you are curious about the CDC recommendations of meningococcal vaccine for patients taking complement inhibitor therapy visit here.
- Get Approval from insurance for Soliris— the drug is EXPENSIVE, very very EXPENSIVE— a bill I found while researching price showed the cost of a Soliris infusion was charged to my insurance at $40,770.00 (and let’s not forget, this is every two weeks). In my experience, prior authorization from insurance is a must. My wife and I had to work very closely with my physician's office to be sure we had everything approved by insurance before I could start my Soliris.
In early July 2014, I started treatment with Soliris for Paroxysmal Nocturnal Hemoglobinuria.
I’ll continue my story in a future update.
This story was taken from Josh and his wife's blog about living with PNH. You can follow their story here at www.dayfifteen.com.
Aplastic Anemia & MDS International Foundation. (n.d.a) How long do I have to live?
Aplastic Anemia & MDS International Foundation. (n.d.b) Diagnosis.
Aplastic Anemia & MDS International Foundation. (n.d.c) Paroxysmal Nocturnal Hemoglobinuria(PNH).
Aplastic Anemia & MDS International Foundation. (n.d.d) Treatments.
Centers for Disease Control and Prevention. (2019, May 31). Managing the Risk of Meningococcal
Disease among Patients who receive Complement Inhibitor Therapy.
Cleveland Clinic. (02/02/2018). Low Hemoglobin.
Johns Hopkins Medicine. (n.d.) Paroxysmal Nocturnal Hemoglobinuria(PNH).
PNH National Service, Leeds & London. (2020a). Frequently Asked Questions.
PNH National Service, Leeds & London. (2020b). Overview of PNH.
PNH National Service, Leeds & London. (2020c). Eculizumab Treatment.