Linda is a three-year-old girl from Guatemala. A few years ago, Linda’s older sister passed away from symptoms consistent with Rett syndrome, a neurodevelopmenal disorder resulting in delayed development. However, she was never properly diagnosed, as her family could not afford diagnostic tests.
Linda is now showing the same symptoms as her sister.
Linda was born a seemingly healthy child, however, “Around the age of 2 1/2 she started to lose development milestones—she used to be able to talk and walk and slowly that dissolved,” says our medical partner, Wuqu’ Kawoq (WK). “Now, she has lost the ability to walk, talk or communicate in any way. She has muscle contraction in her hands and legs and has difficulty controlling her movements.”
WK suspects that Linda has a metabolic disorder such as Tay-Sachs disease or Rett syndrome. Given Linda’s sister’s early death and her mother’s pregnancy history, Rett syndrome is a possible diagnosis.
A confirmed diagnosis is needed to help Linda and her family plan how to best care for her. With $1385, Linda will receive a full workup screening for conditions associated with developmental delays, receive routine physical therapy, and receive anti-epileptic medication to decrease muscle convulsions and allow her more comfort.
“I will take her anywhere, wherever she needs to go to get care,” says Linda’s mother. “If it’s for her I want to fight.”