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Cadence Journey Pierce was born on at 12:39 on a Saturday morning with black curly hair and big blue eyes. The
nurses noticed that she was breathing rapidly after birth, and decided to transfer her to WVU for observation. After
four days there, the condition was chalked up to 'transitional tachypnea' and she was released. We brought our beautiful
baby girl home to begin the spoiled life every first grandchild deserves.
That bliss was cut short 10 days later. At 14 days old, Cadence fell into something similar to a coma. I
took her into the local ER, where bloodwork was drawn. Her pH was 6.9 (usually incompatible with life) and her ammonia
was 435 (40 times the normal limit). She was again shipped to WVU for treatment, but this time the prognosis was very
grim: the physician was sure she'd die in the ambulance on 1 1/2 hour trip to Morgantown.
Cady spent 2 days in the PICU, where she was stabilized. She was transferred to the PICU step-down to begin gaining
her strength and eating better. Once there, she only got worse. Her liver enlarged, a sign of its failure.
She began projectile vomiting bile. She would not wake up. She had 3 seizures in a 20 minute period. Her
body was giving up. She was a fragile little skeleton, only weighing 4 pounds, down from her birth weight of 7 lbs 5
oz. She was hooked up to cardiac monitors, lying in a heated isolette because she could not maintain her own temperature.
She had an NG tube taped to her face, running into her nose and down her throat to feed her. It was a pittiful sight.
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And then.. the cavalry
Every specialist in the place had been consulted to see Cady, and all walked away with the same opinion: This is
not a gastric problem. This is not a neurologic problem. This is not an infectious disease problem. The things
that are happening to her are symptoms of something else.. you find the something and you fix this problem too.
So, as a last resort, her physicians called WVU's geneticist, Dr. Marybeth Hummel, who was out of town for the 4th of
July holiday. They read the case to her over the phone, and Dr. Hummel knew immediately what ballpark we were in.
She gave orders to hold the feedings, and left her holiday immediately. She was at our bedside four hours later.
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