A mother has had her relentless fight to understand the mystery of her twins' illness rewarded thanks to a genome study that not only detected the defect, but also offered pointers to the treatment regimen.
Retta Beery was unable to understand the symptoms caused by a cerebral palsy diagnosis that was made for her twins Noah and Alexis Beery some 13 years ago.
A research by Dr. Matthew Bainbridge of Baylor Genome Sequencing Center in Texas helped her understand the illness when a genome scan of the twins pointed out the defect and led to the institution of the right treatment.
The twins were initially diagnosed with dopa-responsive dystonia (DRD), a problem in the muscles due to the loss of neurotransmitter dopamine. While treatment was given to correct this defect, some symptoms still persisted, leading the parents to approach Life Technologies, the maker of gene sequencing machines as well as Baylor center.
An analysis of the twins' genomes showed no mutations in the two genes commonly mutated in DRD, but revealed a defect in the gene that was responsible for serotonin production. Doctors added a serotonin-inducing supplement called 5-HTP to their dopamine regimen, which resulted in a marked improvement in their symptoms.
The research detailing this analysis appears in the journal Science Translational Medicine.