During his first 11 months of life, Massimo was hitting all of his developmental milestones, and his parents, Stephen and Sally Damiani, didn’t notice anything out of the norm. Right before his first birthday, the family started noticing signs of regression in Massimo. He was struggling to stand and having trouble with his balance. They took him to see his doctor who immediately noticed something was off and ordered a brain and spine MRI (magnetic resonance imaging).
“Although uncertain of exactly what was going on, we knew we’d just lost our son. When we saw the somber faces of the medical staff in recovery, it confirmed our worst fears,” Stephen wrote on his website dedicated to raising awareness for leukodystrophy. That night was the first time the Damiani family was introduced to the terms “white matter” and “leukodystrophy.”
Leukodystrophy is a genetic condition that affects the central nervous system by disrupting the growth of white matter in the brain.
Over the course of the next several months, Massimo’s condition continued to deteriorate. He started choking on water and food, lost his vocabulary, and could no longer crawl or sit up.
After many more months and countless tests, the Damiani family was introduced to Ryan Taft, Ph.D., from The University of Queensland, who helped the family with additional genetic testing, and over the course of the following nine months, pieces of the puzzle started coming together.
Two years prior to this, Massimo had been enrolled in a research project being run out of Children’s National Hospital by Adeline Vanderver, M.D., for unclassified white matter disorders. The objective of the project was to build a bioregistry of children’s and parents’ DNA to help discover new subtypes of leukodystrophy. Using genetic information from the Damianis and seven other families who were part of the registry, the team at Children’s National was able to successfully identify a previously unclassified case of leukodystrophy and Massimo finally had a diagnosis.
Dr. Vanderver is still actively involved in Massimo’s care and in the advocacy organization Stephen and Sally founded, called Mission Massimo, to raise awareness for leukodystrophy.