WHAT'S WRONG WITH ME?
Reader's Digest Canada|November 2020
EVEN BEFORE JOSH was born in 2007 in South Australia, his parents, Nicole and Andy, knew there was a chance their baby might have a severe disorder that could affect the course of his life. His older sister, Lauren, had stopped meeting milestones just after turning one. As she grew, she gradually lost her mastery of skills like walking and speaking. Despite extensive testing, she remained undiagnosed, but doctors suspected it was a genetic condition.
Lisa Bendall

THE PATIENT: Josh*, an Australian boy

THE SYMPTOMS: Diminishing abilities, along with seizures and vomiting

THE DOCTOR: Dr. Nicholas Smith, head of neurology at Women’s and Children’s Hospital in North Adelaide, Australia

Tragically, an unexpected hemorrhage from a perforated ulcer claimed Lauren’s life at two and a half. Her grieving parents worried that the child they were carrying at the time would have the same mysterious condition.

Josh was a happy, social baby, and at first he was on track when it came to rolling over and sitting up for the first time. At 12 months, he took a few steps on his own. Then, just like Lauren, his development slowed. He stopped walking independently. By age two, he was no longer talking. Even though Josh’s parents had expected he might have inherited the disorder, it was still devastating when doctors confirmed it.

At age three, Josh began experiencing bouts of intense vomiting that would last for several days without a break. At five, he couldn’t sit up on his own anymore, and reverted to crawling. He started having seizures. The following year, a feeding tube became necessary because he was eating less and struggling with liquids.

Josh’s medical file was thick with results from physical exams, lab testing and brain scans, but nothing that led to a diagnosis. Numerous tests for genetic conditions had been performed in vain on both Josh and Lauren over the years. The terrifying possibility that this family would lose a second child loomed large.

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