The story of Tess
My entire life I was misdiagnosed with a blood disorder, originally doctors said I had factor XI, others referred to my diagnosis as pseudo hemophilia. I required blood products for every procedure and surgery. Three years ago when I was having problems with DVT blood clots, I was diagnosed with anticardiolipin and I required injections of blood thinner as oral medication failed. My hematologist sent my blood for testing and discovered that I had Runx1 FPD. Upon the diagnosis my mother, and two grown children were also tested and found to also have Runx1. Because of it’s rarity we were all referred to NIH for extensive testing where all four of us were confirmed to have this rare genetic mutation. The four of us have suffered with extensive illlness, and bleeding, and we have endured extensive testing, and procedures. This blood disease has no cure, and it is very rare with not a lot known about a cure. Runx1 can cause a high incidence of AML, and needs to be monitored closely, requiring bone marrow testing, as well as blood tests to watch for cells that can be considered cancerous.
It is truly an uphill battle facing a disease with no cure, and one that is so rare. It’s like being a rare unicorn, as there are other health concerns that can go along with Runx1. My family is courageous, and we are thankful for research and funding to help navigate this mutation. Our hearts go out to everyone who suffers from a rare disease, and we know how important it is to place a spotlight on diseases that are rare. Without research and exposure to these rare diseases there is little hope of finding a way to erraticate them. We as a family thank you for all you have done, and all you are doing to make others aware of these rare diseases, and we are grateful for all the work you are doing to shed light on the importance of awareness. Thank you, from myself, and my family!
Tess Hutto
Runx1 FPD patient