My name is Jennifer and on May 16, 2002, I gave birth to a little girl named Clover Dawn and we were sent home with a clean bill of health. Shortly after we arrived home, Clover Dawn stopped nursing and never opened her eyes or cried. She was admitted to our local hospital and they ran every test they could think of and she still continued to get worse. She was life flown to the University of Utah at five days old and they diagnosed her with a rare genetic disorder called NKH (Non ketotic Hyperglycinemia) or glycine encephalopathy.
NKH is an inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in the blood, urine and, particularly, the cerebrospinal fluid (CSF). The metabolic block occurs in the conversion of glycine into smaller molecules. Mutations in the AMT and GLDC genes cause glycine encephalopathy.
I was told there was nothing they could do for her. We tried the experimental medicine the doctors said might help and it did a little bit. At 10 days old, she opened her eyes, pulled out her ventilator and cried. It was a miracle. Two days later, they let us take her home and told us to continue the medications and she should be fine.
About 2 weeks later, we noticed the seizures returning and her regressing with feedings. She then began to start having episodes where she would stop breathing. She was readmitted to our local hospital, where they talked back and forth with the University of Utah and determined that there was nothing they could do but make her comfortable and let her pass.
I was completely devastated. We took her home on oxygen and pain meds and she passed away in peace 28 days after coming into the world on June 12, 2002.
On July 26, 2003, I gave birth to my second daughter Danika. Shortly after birth, she too was diagnosed with NKH just like her sister. She had the experimental meds in her body for one hour and she passed away, never leaving the hospital and never opening her eyes or crying except for a few minutes after being born. Danika lived three days and passed away on July 28, 2003.