I received a call today at The Hide and Seek Foundation from a woman who’s cousin’s seven month old son, Ben, has been displaying possible symptoms of a neurometabolic disease. You know, darting eyes, not rolling over, trunk weakness. He went to a neurologist yesterday and they discovered a cherry red spot, a telltale sign of neurometabolic disorders like Tay-Sachs, Sandhoff or many of the other lysosomal disorders.
The doctor told the family to go home, wait for the geneticist appointment in “two-ish weeks” and enjoy their baby because the prognosis looks grim. Am I wrong in believing that the time to act for this child is today? Two weeks to start the genetic testing process for a child with a neurometabolic disorder? Go home, enjoy your baby? Every second counts when a baby is declining neurologically! And there are several treatments available for children with rare diseases such as enzyme replacement therapy.
With each symptom there is a little decline that sets in which in most cases is permanent. The key to stopping any progression in a neurometabolimic disorder is to act fast and treat as quickly as possible.
Children who have life threatening and fatal diseases should not have to wait weeks for an appointment and then begin a new round of testing to determine exactly what life threatening disease is facing their child. This family also needs counseling services and needs to begin to prepare themselves for the fight of their lives.
The Hide & Seek Foundation for Lysosomal Disease Research