November 11, 2015
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.”
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...
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March 2, 2016
Linda is undergoing treatment and further diagnostic testing.
“Our medical team is currently waiting on results of high-resolution chromosomal studies to identify any genetic abnormalities in Linda’s genes, which can take a very long time to run in laboratories in Guatemala,” explains our medical partner, Wuqu’ Kawoq (WK). “We believe the results show that she has Rett Syndrome, an aggressive neurodegenerative disorder that affects only females. Since this is a terminal syndrome that lacks a cure or a treatment, our medical team is focusing on maximizing her nutrition, making sure she’s comfortable, and counseling her family.”
“Since gastrointestinal disorders are common in children with Rett syndrome, most children lose significant weight and this exacerbates their loss of developmental milestones. When we met Linda in November, she was not eating, was having frequent diarrhea, and she was losing weight,” WK continues. “Since beginning treatment, we have helped her gain nearly two pounds! Her mom is thrilled. We are very hopeful that she will continue to gain weight and, with continued treatment and testing, we hope that we can give Linda and her family the best quality of life possible.”
“Linda is now eating so much better. I’m so happy that she is finally gaining weight. May God bless you,” shares Linda’s mother.
"Our medical team is currently waiting on results of high-resolution chromosomal studies to identify any genetic abnormalities in Linda's ge...
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