We here at NeuroScience, Inc. were struck in several ways by a recent article by Bainbridge and colleagues in last week’s Science Translational Medicine about a pair of twins, Noah and Alexis Beery, afflicted with a rare genetic disorder known as dopamine-responsive dystonia or DRD.
Bainbridge, et al.: June 16 Science TM cover article
Though as infants the twins were initially diagnosed as having cerebral palsy, their parents suspected that something else was at play (you can read more about their story at the Baylor College of Medicine’s website and National Public Radio’s blog). They doggedly questioned their doctors and pursued scientific leads from the literature, until, years later, DRD was fingered. This type of dystonia is caused by defects in the dopamine synthesis pathway, and indeed, treatment with L-dopa was effective for several years.
Unfortunately, when the twins reached their early teens their condition began to worsen, suggesting a more severe form of the disease. To cut the story short, the twins’ genomes were sequenced and revealed additional gene defects that suggested additional enzymatic malfunctions that resulted not only in dopamine deficiency, but also a reduction in serotonin. Consequently, the twins’ condition has been stabilized by supplementing their L-dopa dosing with 5- hydroxytryptophan, the precursor to serotonin.
Baylor’s Human Genome Sequencing Center
Technologically speaking, this is a “cool” story because the twins’ molecular diagnosis was made using next-generation genome sequencing, indicating that the cost of this approach is falling to a level that will make it ever more accessible in the coming years (see the commentary by Kingsmore & Saunders).
But as a parent of twins myself, I find that the heart of the story is the persistence of these kids’ parents and some insightful doctors, who collectively refused to accept the obvious diagnosis, and used all available means to cure these children. It’s yet another example of how it is often patients and their families who are the ones who push the boundaries of medicine with their courage, perseverance, imagination, and refusal to accept facile diagnosis. Love creates pioneers.
We at NeuroScience, Inc. would humbly suggest that a low-cost analysis of peripheral neurotransmitters, such as we offer and run by the thousands each year, might have rapidly revealed the Noah’s and Alexis’ dopamine and serotonin deficiencies in an initial low-cost diagnostic step, guiding and complementing subsequent genomic analysis. We sincerely hope that forward-thinking clinical academicians and health care specialists will consider this simple approach to help guide their important work.
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