Name: Addison (Addy)
Age of Diagnosis: 5 years old now 7
Date of Diagnosis: September 2020
Diagnosis: Primary HLH, mutation on UNC13d gene
Location of Treatment: Dana Farber Cancer Institute/Boston Children’s Hospital
Child’s Interests: Dance, Art, School, Being with her friends
Addison was born a very happy and healthy little girl. She had frequent infections as a baby including multiple ear infections, pneumonia, mono, and many MANY other illnesses but being first time parents we thought it was just normal childhood illnesses and her pediatrician didn’t appear overly concerned. Days before turning 3 Addison had her first major infection and became septic from a tiny cut on her finger. After her first trip to the hospital including a stay in the ICU she was referred for further testing. It was found she had an immune deficiency, specifically Hypogammaglobulinemia. After a year on antibiotics she began IVIG to support her immune system at age 4. As parents of a medically complex child we are always looking for answers so we enrolled her in a research study about the link between immune deficiencies and genetics. Through this research study we learned she had a genetic mutation on her UNC13d gene, and after further testing at the Jimmy Fund in Boston learned about her HLH diagnosis. Addison is incredibly lucky because unlike most others with HLH, her HLH had never activated and instead we found out about her diagnosis by accident. A stem cell transplant is the only cure and Addison went to transplant on June 23, 2020 at the age of 5 with her baby sister Brooke (only 9mo) being her perfect match. Addison is now 1 ½ years post transplant and doing fantastic. She receives monthly IVIG infusions and is back in school, dance, soccer and girl scouts with her friends. Addy enjoys playing at home with her little brother and sister and wants to be an oncologist when she grows up. We are forever grateful for her team of doctors at Boston Children’s Hospital and in the Jimmy Fund at Dana Farber Cancer Institute for the incredible care they give Addison and our entire family.
