Sunday, November 23, 2014

New Genetic Disorder Linked to Crying

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.


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