Name: Katie
Age and date of diagnosis: 15 years old, August 2020
Diagnosis: Primary HLH
Location of Treatment: Phoenix Children's Hospital
Child’s interests: Enjoys typical teen stuff like music, watching tv, reading, crafts.
Our family had been living in a pretty strict quarantine because Katie's sister is medically fragile. We didn't go anywhere and out of the blue Katie began showing symptoms of illness. She was throwing up off and on, was lethargic, pale, and having fevers. This went on for several weeks. During that time we tested for covid, strep, and mono. Her blood work showed concerning numbers for her ferritin, but all other tests weren't showing much. They had us repeat the ferritin levels a few days later and they were still climbing. They told us to get to the hospital ASAP. We were new to Arizona but knew because of our other daughter, a children's hospital was probably the safest place to take her. We were admitted for three weeks while they tried to figure out what was going on. Her lungs and kidneys were struggling with unusual findings. The lungs made us really question what was happening as this was similar to something her sister had happen 22 years earlier. Our amazing pathologist was very concerned and believed it was probably HLH. They sent off DNA samples and biopsy samples and it was confirmed that she had a gene mutation known to cause familial (primary) HLH. She had a BMT in April 2021. We had to spend 188 days in the hospital and Ronald McDonald House before being allowed home. It has been a crazy hard experience but we are grateful for how far she has come and how well she is doing.
Katie is such a warrior and so is her sister, whose story will be shared next week
