One family, one kid with a one-of-a-kind disease

| | July 18, 2014
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The couple had their first child, a son, on December 9, 2007, not long after Matt completed his Ph.D. in computer science and Cristina earned her M.B.A. They named him Bertrand, in honor of the British philosopher and mathematician Bertrand Russell. After a few blissful weeks, the new parents began to worry. Matt and Cristina described Bertrand to friends as being “jiggly”; his body appeared always to be in motion, as if he were lying on a bed of Jell-O. He also seemed to be in near-constant distress, and Matt’s efforts to comfort him “just enraged him,” Matt says. “I felt like a failure as a father.” When the Mights raised their concerns with Bertrand’s doctor, they were assured that his development was within normal variations. Not until Bertrand’s six-month checkup did his pediatrician agree that there was cause for concern.

Bertrand had brain damage—or, at least, that was the diagnosis until an MRI revealed that his brain was perfectly normal. After a new round of lab work was done, Bertrand’s doctors concluded that he likely had a rare, inherited movement disorder called ataxia-telangiectasia. A subsequent genetic screen ruled out that diagnosis. When Bertrand was fifteen months old, the Mights were told that urine screening suggested that he suffered from one of a suite of rare, often fatal diseases known as inborn errors of metabolism. During the next three months, additional tests ruled out most of those ailments as well.

As one obscure genetic condition after another was ruled out, the Mights began to wonder whether they would ever learn the cause of their son’s agony. What if Bertrand was suffering from a disorder that was not just extremely rare but entirely unknown to science?

Read the full, original story: One of a Kind

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