I have PNH, PNH doesn’t have me

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.

March 29 2014 - Genzyme - Rare Disease Run - 022

Amanda with GRT-partner Dan

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9 comments on “I have PNH, PNH doesn’t have me
  1. Jessicac says:

    Thanks, Amanda, for this great post! Glad you were able to overcome your writer’s block.

    I was struck by all the doctors who said, “I read about this in med. school, but I was told I’d never see it.” I hope we find a way to get med schools to stop telling doctors-in-training that they will never see rare diseases! With 1 in 10 people having a rare disease, they most likely will come across more than one in their career. And they need to start looking for them.

  2. Pete Smith says:

    Thanks for sharing Amanda. Monday is your day. See you at mile 14

  3. Dan Wilkens says:

    Nice work on your blog debut, and thanks for being a great teammate!

  4. Susan Olivo says:

    Thanks Amanda – you have come a long way since we first met. Now you are a spokesperson for the PNH Research & Support Foundation. You give hope and strength to all those who are faced with rare disorders. Congratulations, well done!

  5. Bobbi S says:

    As someone with a rare autoimmune disease, MCTD, I really could relate to your blog post. Thanks for sharing your story. It helps to know we are not alone!

  6. Emma Rooney says:

    Hi Amanda
    I appreciate having a better understanding of PNH from having read your blog post. Your willingness to share is appreciated!
    Your comment about struggling with the response to the comment “…but you look so healthy”, resonates. Sometimes I take it as a compliment (I’m working hard to make you think that) and sometimes it feels as if people are saying, since I can’t see you looking “too sick” your condition is obviously not anything too serious (not worthy of support either). What a pain! That being said, glad your condition doesn’t have you. I think it’s really neat to hear you are a track and field coach! Saddened that running has become a chore for you (sounds like it’s definitely not a nice part of your “new normal”) but I’m sure you give Dan a lot of energy for his run and he better push even harder today!

  7. cody wilson says:

    your not alone….

  8. Way to go, Amanda! You have done a great job describing this experience–so close to my own. Thanks for speaking out for fellow PNH patients.

  9. Sharon Payne says:

    My husband was diagnosed a year ago, fatigue and tiredness being a real issue, as he works full time, and driving 100mile round trip each day. Would love for him to go part time, but nobody will help me find out about benefits he would be entitled too. After all, its not his fault he has this awful disease. Any ideas, you all sound like a friendly bunch.
    we live in Uk, so if this is an american site, I apologise for troubling you, you wont be able to help me, as you guys are alot more advanced with Pnh, that wgat we are.

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