Short story:
We will be participating in the 5k to fight histio in Colorado Springs this June for three reasons
- To celebrate Austin Spencer, who is 11 years past his bone marrow transplant
- In honor of Mason Spencer, who passed away from bone marrow transplant complications in 2015
- To raise awareness for both XLP2 and HLH
Long story:
The summer of 2013 started off with the three Spencer kids not having a care in the world. They were ready to enjoy the summer with their friends and family, taking vacations, and playing lots of basketball. Unfortunately that is not what happened as HLH brought a devastating next 2 years. These are their stories.
Austin -
In June 2013, Austin was about to enter his junior year in high school. He had a passion for basketball and enjoyed hanging out with friends and gaming.
Two weeks into summer vacation, Austin became ill and was diagnosed with mono. After his condition continued to worsen, he was placed in the hospital where further testing enabled them to make a diagnosis of HLH (Hemophagocytic lymphohistiocytosis).
Treatment was started to get the HLH under control. Austin was then also diagnosed with XLP2 (X-linked lymphoproliferative disease). This is a rare disorder of the immune system and blood-forming cells caused by XIAP gene mutations.
Just a few days before his 16th birthday, on January 15th, 2014, Austin received his bone marrow transplant at Cincinnati Children’s Hospital Medical Center (CCHMC). His donor was a generous stranger from Germany. Austin did his junior year remote and started his senior year remote. After nearly a year of limited contact and living in Cincinnati, he was able to return to Illinois and to finish his senior year in person. He had a passion for basketball and had worked hard over the past year to rebuild his strength and was able to return just in time to join his team for the season.
At this time, Austin is fully recovered and considered to have a normal immune system. He is very active and completed his first Olympic triathlon this year. He graduated with a computer science degree from Arizona State University in May, 2022. He currently lives in Charleston, South Carolina, with his wife Gretchen and works remotely as a Senior AI & ML Engineer at CNA Insurance. Austin and Gretchen are expecting their first child, a girl, in October. Their baby is guaranteed to be a carrier of XIAP deficiency.
Mason-
In June 2013, Mason was a fun, loving, unique 13 year old boy about to go into 8th grade. He had a thirst for knowledge and was full of random facts. He loved life and was always happy. He enjoyed being with friends, playing basketball, watching TV, researching on the Internet and many other things.
Due to Austin’s diagnosis, Mason had genetic testing done, and in September 2013 was told he also had XLP2. He was advised this would cause him to get HLH in the future, as it did his brother that year, and also a list of other possible complications. They suggested a bone marrow transplant while he was still healthy.
Less than 3 months after Austin’s transplant, Mason had his bone marrow transplant on May 2, 2014 at Cincinnati Childrens Hospital Medical Center (CCHMC). His sister, Raegan, was his donor.
In July 2014, the tests showed Mason’s transplant was failing. Raegan quickly came to Cincinnati and gave blood which they separated out just the t-cells. Mason received these t-cells which is known as a donor lymphocyte infusion(DLI).
Unfortunately on August 1, 2014, Mason began severe signs of graft versus host disease(GVHD) as a result of the DLI. He had both skin and gut GVHD. It was said to be stage 4 of 4.
Mason never left the hospital again. He battled through this trying every medicine CCHMC could provide him along with photopheresis. He had many complications along the way, including kidney damage which caused him to begin dialysis.
Mason maintained a positive attitude throughout and he did everything the doctors, nurses and therapists asked of him. Unfortunately his body gave out. He had kidney failure, damaged GI tract, damaged liver, an infection on his tricuspid valve, brain slowing and respiratory failure.
Mason passed away on August 27, 2015 at the age of 15 surrounded by his immediate family.
Raegan -
In June 2013, Raegan was energetic and very mature for her age (which definitely helped as we navigated these future years). She was about to be a sophomore in high school and loved her brothers fiercely.
Raegan also received genetic testing in September 2013 due to Austin’s diagnosis. She was then diagnosed a carrier of XIAP deficiency. She has had no known side effects from this to date. However, she will have a chance of passing this to her children.
Raegan is currently living in Mesa, AZ with her husband Jared where they have a very active lifestyle. She is a Registered Nurse working at MD Anderson in the Fast Track Bone Marrow/Stem Cell Transplant clinic.
