We came to OHSU for an MRI for our son Marshall. Our pediatrician had referred us because when Marshall was 13 months, his milestones started regressing: over the course of a week, he stopped walking. It was like he wanted to move, but couldn’t.
Marshall was diagnosed with Krabbe disease. It’s a genetic disorder that affects the central and peripheral nervous systems. Children with Krabbe disease lack an enzyme that metabolizes myelin, the covering that insulates nerve fibers; this causes mental and motor skills to deteriorate. There’s no cure for the disease, and it’s fatal.
When our son Michael was born, we had him tested for Krabbe’s. Tests showed Michael also had Krabbe’s, but because he hadn’t yet shown symptoms, he qualified for a cord blood transplant. We chose to have this procedure done at Doernbecher when we met with Dr. Eneida Nemecek. She was honest with us about all the possibilities and risks: She didn’t sugarcoat anything.
In February 2011, Michael had a cord blood transplant. Before that, however, he had eight days of chemotherapy, which killed off the immune system so his body would accept the new blood. Michael was so sick from the chemotherapy; he spent three months in the Pediatric Intensive Care unit (PICU), first with renal failure, then liver complications. Dr. Susan Orloff gave us a ray of hope when she performed a portal caval shunt, fixing the high blood pressure in his liver and allowing him to heal.
By May, the doctors confirmed Michael’s cord blood transplant was successful. His enzymes showed normal range. A MRI shows no disease activity. Michael is now 17 months old, crawling, walking with assistance, babbling, and laughing. Though eating is going well, drinking is still a challenge.
Marshall, however, is on hospice palliative care. He’s blind and deaf, and can’t walk, crawl, or talk. A recent MRI shows that the Krabbe’s has reached his brain stem, which is responsible for the body’s activities like breathing and digestion. His life could have been spared with a phenylketonuria (PKU) test; it’s why we’ve become huge advocates for Universal and Expanded Newborn Screening.
The Doernbecher team that cared for both my sons is exceptional, especially the hematology/oncology, transplant, and PICU staff. They always listened to us and took our advice into consideration. We consider them family.