Thank you for visiting this website, which is dedicated to a little girl
named Elizabeth Kathleen McLaughlin, who was born on December
4th, 2005. Shortly after being born, Ellie Kate was diagnosed with an
inherited, metabolic disorder called Non-Ketotic Hyperglycinemia, or
NKH for short.
Those affected by NKH have high levels of a basic amino acid called
glycine in blood, cerebrospinal fluid, and urine. Some patients died
in the newborn period after a course characterized by lethargy, weak
cry, generalized hypotonia, absent reflexes, and periodic myoclonic
jerks. Survivors are subject to various degrees of mental retardation.
Progress has been made during the past decade for a better
treatment of NKH. Unfortunately, due partly to the disorder’s
heterogenuity, no absolute cure has been found yet.
Amongst other complications, Ellie Kate is regularly subjected to
seizures, myoclonic jerks, and an irregular heartbeat. Due to this
rare disorder, she has undergone numerous medical procedures.
She visits hospitals and medical specialists on a regular
basis, causing her family to incur massive medical expenses,
exhausting their finances.
Please take some time to preview this site and learn more about NKH
and how it has affected Ellie Kate and her family.
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