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Genetic Linkage

When a Rare Mutation Causes a Rare Disease: Jacob’s Story

For some parents, a physician's advice to "just take him home and love him," presumably letting nature take it's most likely course, is just not acceptable. This blog has championed many such parents, who serve as catalysts for others.

 

New to rare disease territory is Orah Lasko, whose toddler Jacob not only has an exceedingly rare disease, but a highly unusual mutation behind it. With all of the media coverage of the high costs of new biotech-based treatments – gene therapy, targeted cancer drugs, monoclonal antibody-based drugs, antisense oligonucleotides – having such a double dose of rarity could be quite an obstacle.

 

But that's not stopping Orah. Nor are the words of a neurologist who advised her to stop pursuing treatments.

 

The Diagnostic Odyssey

 

Orah Lasko's pregnancy, her third, had been uneventful, with normal findings on the standard prenatal tests. Jacob seemed okay when he was born in September 2017, with minor feeding issues that went away. His small genitals didn't set off any alarm bells.

 

But as the months went on, other things appeared. Or didn't.

 

 

To continue reading, go to my blog, DNA Science.

 

 

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