DNA sequencing leads to correct diagnosis, effective treatment, DNA sequencing itself still stupid expensive

Medium-length story short: a pair of twins were misdiagnosed with cerebral palsy. Studious mom offers correct diagnosis of DRD. Standard DRD treatment loses effectiveness over time. Dad, who works for a biotech company that builds DNA sequencing machines, sequences twins DNA to find more problems that are alleviated with drug therapy. Everything A-OK.

From NPR:

Comparing the results, the researchers found that the twins both inherited a gene variant from each parent that, together, led them to have low levels of not just dopamine but two other neurotransmitters, serotonin and noradrenalin.

The twins’ neurologist, Jennifer Friedman of Rady Children’s Hospital in San Diego, suggested giving the teenagers a supplement called 5-HTP that’s a precursor for serotonin.

Together with the L-dopa, the additional supplement has improved Alexis’s breathing point to the point that she’s now running track again. Noah’s handwriting and athletic performance have improved, and he’s better able to focus in school.

Genomics: 1, The other guys: 0

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