Max
FEBRUARY 6, 2014 - JUNE 24, 2016

Max was born on February 6, 2014 as a healthy full term baby boy. He was such a happy baby and always smiling. Around 7-8 months we slowly noticed that Max was struggling to sit straight—he was a little more fussy, he stopped grabbing for things, and he wasn't rolling. We took him in to his pediatrician for a 9 month well check-up, and she told us to go to emergency because his breathing had become a little more shallow and something was off. We went to PCH and checked in early November 7 but were discharged with no real answers other than he had some vanishing white matter that appeared on his MRI. Our pediatrician pushed for us to see a genetics doctor immediately. We got in the following week, and they had us do some blood work to be sent off to test for some rare disorders. On December 1, we went back to PCH for a neurology appointment and more tests scheduled that week. The genetics doctor walked in with two neurologists with the worst possibly news—Max had a leukodystrophy, and worst of all, he basically had the worst version, Krabbe disease.

~Allison, Max’s Mom

Krabbe Disease

Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin. This disorder is also characterized by the abnormal presence of globoid cells, which are globeshaped cells that usually have more than one nucleus.

Artist: Jennifer Polnaszek