Saving Jake: <em>Nightline</em> And A Kid Who's Racing The Clock

Marcy and Andrew called it earning a "Ph.D. in Jacob" and they earned their stripes by making the diagnosis that had eluded their doctors: Their son had a rare neurological disorder, with no cure and a life expectancy of 15-20 years. They refused to accept that — and found a treatment that just might work.
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jake morty.JPGI first met Morty through a quadruple-blind set up, the product of my mother giving out my number to her friend to be passed down through a chain of mothers and daughters to a woman named Marcy White to give to her brother. Against all odds, the product of that meeting was one of my most valued friendships, with my now longtime close friend and now HuffPo contributor, Morty White.

I say this by way of introduction to his story, or rather the story of his family, which will be airing tonight at 11:30pm on Nightline: Marcy, and her husband, Andrew Trossman, have been racing against time to find a cure — or even a treatment — for their four-and-a-half year old son, Jacob, who was born with a rare genetic neurological disorder called Pelizaeus-Merzbacher disease, or PMD. Worldwide, the disease affects one in 300,000 children, mainly boys. They didn't know this at first; all they knew was that their baby couldn't cry, he twitched uncontrollably, he vomited repeatedly, he made sounds like a donkey shrieking. The doctors were stumped; they told Marcy and Andrew that they'd "never know" what was wrong with Jacob. Marcy and Andrew said that was unacceptable, and dove into the research themselves, taking home their sick baby and getting up the curve of caring for him, all the while exhausting themselves trying to play detective in incredibly complex and specialized areas of medicine. They called it earning a "Ph.D. in Jacob" and they earned their stripes by making the diagnosis that had eluded their doctors when, incredibly, Marcy discovered that her mother's brothers, who died in infancy, had had the exact same symptoms. In a medical journal from a quarter-century ago, they found proof: A relative of Marcy's, cited in the journal with the exact same symptoms as Jake.

jacob ii.JPGThe rest is straight out of Lorenzo's Oil: PMD is degenerative, with no cure, and most children suffering from it have at most 15-20 years to live. If Marcy and Andrew were going to do anything for Jake, they had to do it by age 5, to take advantage in rapid neurological development in kids of that age. Self-taught, they launched into research, following every lead, talking to every specialist. In between, they had twin daughters: Healthy baby girls and loving sisters to big brother Jake.

Tonight's Nightline piece traces their search for a cure and a treatment, finding an experimental drug that they thought might — might — do something, and pushing it into the hands of a specialist, Dr. Jim Garbern from Wayne State University in Detroit, who tested the drug on mice with a genetic condition similar to PMD, where they would shake violently, like Jake's eyeballs. For a while, nothing worked...and then, something did: Gabern upped the dosage and one mouse responded. He stopped shaking, started walking and even running. Now the only thing standing between this drug and Jacob are the clinical tests that are required before it can be used on a human being. Says Andrew on the program: "We are pushing as hard as we can.. This is the miracle that we were hoping for that first day." They hope.

Morty lives here in New York, and he goes home to visit Marcy, Andrew, Jake and the girls in Toronto all the time, and keeps me up to date on their progress. I've never met a more doting uncle, and my fingers are crossed for all of them. Their story is amazing, truly amazing, and I wanted to bring it to the attention of HuffPo readers, should you find yourself in front of the TV at 11:30 pm tonight. You can also find more information from ABC here, and at Marcy and Andrew's website and blog, "Helping Jacob" (which includes a link to a video Jacob meeting his favorite singer, Andreas Bocelli - Morty says that Jake responds to Bocelli like no other singer, smiling and trying to sing along. The family went to see Bocelli perform and were invited to attend the dress rehearsal, and afterward Bocelli met his young fan). Pretty amazing combination - fingers crossed for Jake and family to have a similar triumph over adversity.

Nightline is on ABC tonight at 11:30pm.

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