Cadence Journey Pierce (2/5/13)

 Cadence Journey Pierce New Martinsville, WV

Propionic Acidemia

It was a normal pregnancy for Leslie Pierce. Cadence was perfect: 10 fingers, 10 toes; the first grandchild born to both sides of the family. 

Then, unexpectedly, at 14-days-old Cady wouldn’t wake up. Her family rushed her to their local emergency room.  Her prognosis quickly became very grim. No one knew what was wrong.  She was quickly transferred to WVU Children’s Hospital. After days in the pediatric intensive care unit, she continued to linger in a coma and had lost three pounds since birth.  Every specialist was consulted.  No one had ever seen anything like this before. 

Over Fourth of July weekend, with all other paths exhausted, Cady’s doctors consulted MaryBeth Hummel, M.D., chief of the West Virginia University Section of Genetics, who was in Indiana with her family. Cady’s doctors read her case over the phone to Dr. Hummel hoping her vast knowledge could shed some light on this perplexing mystery. Dr. Hummel immediately recognized her condition and left her own family to care for Cady. She was at her bedside four hours later. It was this prompt decision and action that saved Cady’s life.

Cady was diagnosed with Propionic Acidemia (PA).  She was the first child diagnosed in West Virginia with this disease.  Propionic Acidemia is a rare disorder that is inherited from both parents. Individuals with PA cannot break down parts of protein and some types of fat due to a non-functioning enzyme called PCC.  This inability causes a build-up of dangerous acids and toxins, which can cause damage to the person’s organs.  PA can also damage the brain, heart and liver, cause seizures, and delays to normal development like walking and talking.

Cady’s parents were told that it was likely that she’d never walk, talk, hear or see. However, Cady is not, nor will ever be, bound by prognosis. She sees, hears, laughs, and talks. She plays percussion in her school band, and has taken tap and ballet lessons and played soccer for many of her years. 

In 2007, Cady’s family was part of the Expanded Newborn Screening passed and signed into law in West Virginia. Now, every child born in West Virginia receives testing for 29 diseases, including Propionic Acidemia, at birth, when detection is most crucial. Because of this, children like Cady who are born in West Virginia actually have a fighting chance to live full and happy lives. 

Today, Cady enjoys her friends, her schooling and her life. She is happy and loved by all who meet her.