CheckOrphan: Palo Alto Toddler Diagnosed with ‘White Matter Disease’

May 12, 2015


Up until a few months ago, little Kash Filiac was crawling, trying to stand and playing with his toys. Now, at 19 months old, he can no longer do those things.

“He wants to be able to do the things he used to do and he sees other kids doing things he wants to do,” Jess Mennig, his mother, said Wednesday. “He gets frustrated.”

Kash suffers from a type of leukodystrophy, a group of rare genetic disorders that affects the central nervous system by disrupting the growth or maintenance of the myelin sheath in the brain that insulates nerve cells, according to the Untied Leukodystrophy Foundation website, Since myelin is sometimes referred to as “white matter” because of its white, fatty appearance, leukodystrophy is also known as “White Matter Disease.”

The disease is more common than cystic fibrosis, occurring in 1 of every 7,000 individuals. Life expectancy with the disease varies depending on the specific type of leukodystrophy.

Born Sept. 22, 2013, Kash hit every developmental milestone.

“He was so close to walking. He was pulling himself up to stand,” Kyle Filiac, his father, said.

It was not until February that his parents noticed something was wrong.

“He was having weakness on his left side,” Mennig said.

Then, all of a sudden he stopped crawling and could not sit up straight by himself.

“It was almost like a light switch,” Filiac said.

After a series of blood tests, X-rays and a CT scan came back negative, Kash was taken to the emergency room at the Children’s Hospital of Philadelphia in March. There, he underwent an MRI as well as spinal tap. The MRI revealed the white matter disorder in his brain.

“We had a lot of questions,” Mennig said. “It was a real surprise to us.”

There are more than 40 different types of leukodystrophies, with different symptoms varying by genetic cause, according to the UnitedLeukodystrophy Foundation. They are mostly inherited disorders, meaning that it is passed on from parent to child.

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