NGLY1 Deficiency: Finding The Cure

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Knowing that something is wrong with your child and yet there is no current cure for it can be a frustrating situation for most parents. Many give up hope in finding a cure. Luckily for Grace Wilsey, her parents never gave up looking for ways to find a cure for her health condition.

NGLY1 deficiency is considered an inherited genetic disorder. A mutation in the NGLY1 gene causes health problems such as developmental delays, liver disease, and abnormal tear production. Currently, there are only 8 confirmed patients who have rare DNA quirks.

The Wilseys have consulted over a 100 doctors to identify what ails their daughter. Grace exhibits unusually slow cognitive and motor skills. Doctors have identified what ails her as hypotonia. The condition makes Grace limp like a rag doll. Lab test indicated that Grace had high levels of ALT and AST liver enzymes. It concludes that she if suffering from liver damage, but there is no clue to what triggered such complications.

The Wilseys met Matthew Bainbridge, who instantly suspected DNA mutations as the probable suspect in Grace’s condition. Matthew looked for unusual gene mutations until he came across a published paper in the Journal of Medical Genetics. It indicated that a young boy has the same genetic disorder as that of Grace. Further comparison was made and the relentless search to find the cure goes on. Now, there are five treatment approaches are being studied. With the continuous digging, more patients have shown up. Currently there 14 confirmed patients with NGLY1 deficiency.

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