Tunnel Vision, Headaches Lead to Rare Diagnosis of Paroxysmal Nocturnal Hemoglobinuria
June 27, 2017
by Skyler Hrabe
I will never forget the feeling of utter helplessness, despair and disbelief as the realization dawned on me that my husband, Jason Hrabe, was going to have to prepare for the fight of his life.
Earlier this year our main focus was on starting the family we had always dreamed of and beginning the process of searching for a new home. Unfortunately, those dreams quickly became the last thing on our priority list as we learned that Jason’s health was compromised and we needed to start down the road to recovery immediately.
This all started about a month ago when Jason went into the doctor’s office to discuss some ongoing symptoms of headaches, tunnel vision, fatigue, and dizziness that had consistently presented themselves over the previous week. The doctor thought his symptoms may be attributed to neck tension, yet performed routine blood work to ensure there wasn’t any other underlying cause. Later that night, Jason’s physician called us and told us to head to the emergency room immediately because his hemoglobin dropped to 5.5. For those of you that don’t know, a normal man has a hemoglobin level of 12 – 14.5.
Jason stayed in the hospital for a little over a week where a multitude of tests were performed trying to pinpoint the root cause of his symptoms. The doctors continued to monitor Jason over the next few days, still concerned because his red blood cells were breaking down, but also because his hemoglobin, platelet, and white blood cell levels were low and continuing to decrease as well.
After a week in the hospital, a bone marrow biopsy, and numerous tests, the doctors eventually diagnosed Jason with a life threatening rare blood disease known as Paroxysmal Nocturnal Hemoglobinuria, or PNH. PNH is a RARE (seriously – one in a million), life-threatening blood disease. In addition to this, Jason is showing signs of bone marrow failure as well. This means he does not make enough red blood cells to carry oxygen, white blood cells to fight infection, or platelets to clot his blood –even the most minimal bleeding has the potential of not clotting. When his hemoglobin drops below a 7 he starts to become short of breath with the slightest activity and a common cold could take triple the amount of time to recover from. There are only two treatment options for those with this disease. The first is a recently developed drug called Soliris, which Forbes has deemed “the most expensive drug in the world ($450,000 annual cost) and the other is a bone marrow transplant. Jason will begin treatment with this drug once he gets the appropriate immunizations and then we will start our search for a bone marrow match.
One of the single most important things that Jason can do right now is to see a specialist who is familiar with the unique needs of a PNH patient and seek the best course of treatment. Upon meeting our ONH specialists at the Mayo Clinic, we learned that the only option for Jason long term will be a bone marrow transplant. Until that point, Jason will continue on the Soliris in hopes to control some of his red blood cell levels.
Due to the complexity of this condition and the lack of a full understanding of it, this is just the start of his life long journey to recovery, so please continue to keep us in your thoughts and prayers and check in with us along the way.
With the generous support of his family and friends, Jason looks forward to a day when he can report that he is PNH free and healthy again. Please share his story and help us raise awareness of this rare disease. We could also use as many thoughts and prayers that we can get right now, so please think of us throughout this difficult journey.
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