First Name: Genesis
Age and Date of Diagnosis: 2 weeks
Location of Treatment: Phoenix Children’s Hospital
Primary HLH:
Genesis's story as told by Mom:
"While Genesis was in mom’s belly both mom and her were very sick and doctors didn’t know why. After 2 days in the hospital a high risk ultrasound was done and we were sent to a city two hours away for an emergency c-section. Genesis was taken straight to the NICU of TMC where they worked on her for 5 hours before letting anyone see her. For two days Genesis got more swollen, and more jaundiced. She was born with only 5,000 platelets and silver hair that was a mystery to everyone who saw her. TMC transferred her care to Phoenix Children’s Hospital where she was stabilized and seemed to get better but left us confused at her hair color. We were getting ready for discharge when Genesis’ labs returned. All of her infectious diseases came back negative but her genetic panel showed she had a genetic mutation on RAB27A causing Griscelli’s Type 2 with HLH, a very rare autosomal recessive disorder. Genesis is now 5 weeks old, inpatient at Phoenix Children’s fighting smoldering HLH as she waits for one of her matches to agree to donate. Word about her has spread and she is known all over the hospital as “the silver haired baby”. So many times we could have lost her, but every day she shows us how strong she is. She’s been taken off of her breathing tube, she’s off any drips, or oxygen, she’s tolerating her feeds, and she is continuing to hold on and grow. We love her so much. Her big brother and family is at home waiting to meet her."
