Every parent's biggest nightmare is their child having any
diseases or disorders. For the Wilsey family that nightmarish unfortunately
became their reality. Their daughter grace was a very lethargic baby and her
parents discovered that there was something wrong. There was a lack of mental
presence in her eyes and getting their child to eat was a difficult task.
Doctor could not figure out what was wrong with this child, no matter how many
tests were run.
Finally, the Wilsey
family took their daughter for genetic testing at Stanford University. Dr.
Bainbridge ran hundreds of genetic sequencing tests and was perplexed by the
DNA mutations found. He then found an article on a new genetic disease
discovered at Duke University. Patients with this disorder lack NGLY1 enzyme.
A key symptom for this disorder is that patients with this cannot cry or
produce tears. Grace was only the second person to be diagnosed with this
disorder. Since then there have been many other patients who have been labeled
with this disorder. Five treatment approaches are currently being researched
and with the hard work of many geneticists, people living with this disorder
will soon have options.
Original Article:
http://www.cnn.com/2014/03/20/health/ngly1-genetic-disorder/
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