RDAC identifies newborn-screening additions and conditional waivers for progressive neurodegenerative diseases as advocacy priorities

The Connecticut Rare Disease Advisory Council agreed to pursue two advocacy priorities carried over from prior meetings: seeking expansion of the newborn screening panel for specific rare disorders and advocating for compassionate or conditional waivers to provide in-home nursing and supports for children with progressive, neurodegenerative disorders.

The nut graf: Council members said that timely screening and targeted waivers could prevent rapid functional decline in infants with severe conditions and reduce acute family crises; they tasked council members to refine advocacy materials and next steps.

Cochair Leslie Bennett described two screening targets and a waiver gap: "The advocacy issues we have left over from last year are expanding newborn screening to include [spinal] muscular dystrophy and metachromatic leukodystrophy," and she said advocacy groups want those conditions added to Connecticut's newborn screening panel. She also described a gap between early intervention and later eligibility for developmental disability waivers that can leave children with progressive disorders without services during a critical window.

Bennett recounted her own experience with a conditional waiver that provided nursing hours and family relief, saying it was "a godsend" and noting that families who face similar progressive illnesses often face impossible choices between paying rent and purchasing necessary nursing care. The council discussed estimates of numbers affected; Bennett said they were "talking about maybe 40 or 50" families statewide but emphasized that the population will turn over rapidly because some children with these disorders do not survive long.

Members asked the RDAC to prepare advocacy materials and pursue agency and legislative contacts to clarify statutory or administrative paths to conditional waivers and to investigate whether federal newborn-screening decisions (the RUSP process) affect state actions.

Ending: The RDAC agreed to proceed with advocacy development on newborn screening additions and conditional waivers and asked members to bring evidence and contacts to the next meetings to support proposed legislative or administrative approaches.