by Jennifer Rolph
This is my baby boy, Cooper. He is 19 months old.
Cooper was born with Severe Congenital Neutropenia (Kostmann Syndrome/Kostmann Disease).
This is a rare bone marrow disorder characterized by a severe deficiency of neutrophils (a part of the white blood cell that fight infection and bacteria). He may look 100% normal, but a simple prick of the finger could have him in the hospital for days.
Cooper has undergone two bone marrow biopsies and is currently undergoing a trial treatment of Neupogen injections (used to stimulate the bone marrow to produce and mature white blood cells). He has been updated to getting an injection every day. His neutrophil count did progress, then failed.
He will be undergoing a few more genetic tests (if they can be afforded) to try and diagnose him further to get better treatment options. These tests include: HAX1 gene mutation and X-linked neutropenia due to mutations in the Wiskott-Aldrich syndrome (WAS) gene.
Essentially if the injections work, he will be taking them for the rest of his life. If they don’t work and they aren’t able to find a better treatment option, my baby will have to undergo a bone marrow transplant (chemotherapy) and I wish nobody to have to go through this. He’s my little trooper and he is fighting this daily, head-on.
I would love for my son to be able to be a regular kid. I want to see him go to school, I want to see him have a pet–play with his friends, live normally without fear of simple bacteria.
I have opened a GoFundMe account for those of you who may wish to donate towards genetic testing for Cooper. You can find our page here.
Thank you for taking the time to read my story. Even taking the five minutes out of your day to learn about this disorder means a lot!