Menke's Syndrome: A Family View

Dane Wilson has shared a story about a family he knows from Upstate New York: “The DeFabios are a lovely family living in Ballston Spa, NY. Tina is an English teacher and Dan is a filmmaker. Their son, Lucas, was diagnosed with Menke’s Disease, a chronic and usually fatal illness that affects protein structures of many systems of the body, shortly after he was born. Since then, Dan and Tina have publicly shared their experiences raising their child, including their struggles with his mortality and their own. “You can’t change the diagnosis, but you can change the way you view it,” Dan said. “The only thing we need to do is love him,” Tina said.

Check out this article to learn more."

Photo from the Saratogan 2013

About Menke's Disease: 

Menkes disease (MD) is a rare, inherited, metabolic disorder, with an estimated incidence of 1 in 114000 - 250000 live births [8]. It is characterized by psychomotor deterioration, refractory epilepsy, thin and brittle hypopigmented hair, skin pallor, and hypothermia. There are a few variants of MD, such as a mild variant, neonatal variant, and occipital horn syndrome. Infants with classical MD are usually healthy until 2-3 months of age, when the disease starts to manifest with developmental delay, failure to thrive, intractable seizures and progressive hypotonia with a characteristic cherubic face.  Reference: Dermatology Online Journal

MD is a fascinating problem to medical scientists, but it strikes me that they tell us little about what the life of a child and that of his family is like.  The picture of the DeFabios gives a glimpse.  There is so much more to tell.