What "Best Case" Looks Like in Rare Disease
PKU has newborn screening, a known treatment, and decades of research. The care is still rudimentary. This is what the lucky ones get.
If you have phenylketonuria (PKU), a metabolic disorder known since the 1960s, your adult treatment hasn't meaningfully changed since then. You likely still see a pediatrician because no adult-facing specialty exists. Your medical food (a free amino acid formula so unpalatable most people cannot tolerate it) must be picked up at the county health department because it can't be delivered like other medicine. And despite decades of newborn screening, there is still no daily at-home monitoring analogous to a diabetic glucose monitor.
Most people with PKU never receive a genetic panel as part of diagnosis or treatment. Occasional therapies emerge, but without daily lifestyle data, their acuity is stunted. This is what "rudimentary" looks like in rare disease, and PKU is one of the better-characterized conditions.
Why treatments stay rudimentary
- No aggregated data: Each patient's daily experience vanishes. There's no shared corpus to find patterns across thousands of people.
- No market incentive: Individual rare diseases are too small for pharma ROI models. The data stays fragmented, and the market never forms.
- No patient ownership: When data is collected, it belongs to the institution. If that institution falters, as 23andMe did in bankruptcy, patient data goes with it.
- No portability: Even willing patients can't easily move data between researchers, institutions, or countries.