Rare neurologic disease affects handful of children


At a news conference in January, O'Brien said, "At the end of the day what's most important is your family, the health of your sons and your wife."

The Savoie family of Lake Charles, Louisiana, understands exactly what he means. Their son John has Lissencephaly too. It took years for John to learn to swallow, squeeze a ball, even turn his head. And he often has seizures many times a day.

Jennifer Savoie, says "Our goal of course is to get him to have optimal head control."

While she sits on the floor with 7-year-old John, straightening and stretching his arms and legs.

Young parents like Jennifer and Kevin Savoie are caught off guard when a baby like John is born. They had no idea their child's brain never fully formed.

Kevin Savoie, John's father, remembers how they were told. "The doctor comes up and says he'll live two or three years. As a parent your heart just shatters."

Dr. Gary Clark is John's pediatric neurologist. He also heads the neurology division at Texas Children's Hospital. "This is a tragic disorder. You're left with a neurologic problem the rest of your life because of one simple genetic mistake."

Baylor researchers actually identified the genetic mistake that leads to the most common forms of Lissencephaly 30 years ago.

Today, Texas Children's doctors are treating about a dozen children with this very rare disorder.

John must take his medicine and be fed through a tube in his belly. And he's lived longer than doctors expected. But living isn't easy.

"It is like having a perpetual newborn. He has feeds every four hours, needs diaper changes, and has to be turned," says his mother, Jennifer.

The Savoie family feels very much alone. They have never met another child like their son John, never talked to a family who must deal with the same heartbreak, and the same daily struggles. So when they heard about Jack O'Brien, they felt a bond with the O'Brien family.

"I would love to meet the O'Briens. I would love to be able to connect with the family and see what therapies have worked for them. What medications," says Jennifer.

Until then, the Savoie's are doing the best they can for their son, John. It's not a life they wished for him, but it is one filled with love.

Find Christi on Facebook at ABC13-Christi Myers or on Twitter at @ChristiMyers13

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