The story of Shea
In 1994, my son Jacob was a 1 year old child recently diagnosed with rare Infant Leukemia (ALL). After chemotherapy and total body radiation we were blessed to find on unrelated bone marrow donor and Jacob received his life saving transplant 5/17/1995. He was in perfect health for the next 20 years until January 2015 when 2 weeks after his 21st birthday we found ourselves in the ER cause Jacob had been feel well for a week and extremely pale, I just knew something wasn’t right. After blood and platelet tranfusion sand a bone marrow biopsy, Jacob was diagnosed with a rare disease Severe Aplastic Anemia. Jacob’s bone marrow was failing and no longer producing the necessary blood cells needed for survival. We were told he would need another bone marrow transplant. After, testing were we excited to learn Jacob’s younger brother, Nikolaus, was a perfect sibling match. We went to transplant and again Jacob received a life saving bone marrow transplant on 2/25/2015. The bone marrow engrafted and everything was going great in his recovery until August 2015, when after bad blood work it was determined he was suffering from a rare auto immune blood disorder, Evans Syndrome. His body was producing antibodies to fight and destroy his red blood cells and platelets. Again, we started treatment with included high dose steriods and rixtuian. By early December Jacob’s blood counts were continuing to improve and was doing the best he had in the past week. On Chistmas Eve, I started to notice some small petechia on his arms and he looks slightly pale. Yet he insisted he was ok and could wait until the next week for his clinic appointment. On 12/26/2015, (his 22nd birthday), we were heading to the ER again and admitted in the hospital. His blood counts had dropped dramatically, hemoglobin was 7 and platelets was only 5 (they had be hemoglobin 15 and platelets 250, two weeks prior). I knew something was horribly wrong and it was determined his Evans Syndrome relapsed. He was immediately admitted into the hospital being blood and platelets dependent, treatment wasn’t working as he was still destroying the blood and platelets as fast as they could transfuse the blood products. After several weeks in the hospital, Jacob started vomiting and acting very confused and he was rushed to a CT scan. It was found he had bleeding in his brain due to the low platelet count. We rushed him into surgery to have his spleen removed to help with the destruction of the blood cells and inserted drains in his head to help drain and reduce the swelling in his brain. My beautiful, caring, funny amazing son never woke up again, he was declared brain dead from the bleeding on 1/14/2016. This rare blood disease Evans Syndrome, stole my son and robbed him of the life he deserved. Rare diseases need additional research and recongition, don’t let our soldiers and angels fight in silence anymore. No one should have to lose their life or a loved one to these rare diseases.