I was misdiagnosed with Crohn's disease at the age of seven, and continued to live and be treated for that diagnosis until I was 19. It was then that I was introduced to my accurate diagnosis of Hemophagoctyic Lymphohistiocytosis (HLH), which was caused by a genetic mutation called XIAP syndrome, at birth. The estimated incidence of XIAP is 1-2 cases per million of live born children.
HLH is a dangerous blood disorder that impacts white blood cells in the body, usually tasked with fighting infections and other diseases. Those cells kick into overdrive and target vital organs instead of remaining localized to the problem area.
In February 2018, I found myself sicker than ever because those cells were targeting my liver and other organs, causing me to become septic, which left me in the ICU for months. Following some genetic testing, results came back positive for HLH. I was quickly places in the care of the bone marrow transplant team and my rigorous course of treatment commenced. Finding a stem cell transplant donor and treating sepsis were the first of multiple priorities. Afterwords, I went through several exhausting rounds of chemotherapy to kill the bad cells in my body and get prepared for the fresh new cells.
On January 5, 2019, I had a bone marrow transplant that saved my life. I am currently finishing my bachelor's degree in health services management to be a patient advocate and provide an additional voice for patients with rare disorders.
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