The O’Sullivan family had three very healthy babies before Drake was born. His blue eyes energetically said hello and his weight met all health standards, yet it wasn’t until three days later that his family noticed that something wasn’t right, as reported in Go Upstate.
Drake suffers from nonketotic hyperglycinemia (NKH), an extremely rare genetic metabolic disorder. The family from Greer had to quickly learn what this would mean for their baby and their lives.
Three days after returning from the hospital post-birth, Drake was struggling to breath and showed extreme fatigue. They immediately took him to the emergency room where tests were conducted. His blood temperature was low, he was very dehydrated and his carbon dioxide blood levels were high. Drake wasn’t responding appropriately to antibiotics for weeks. He also couldn’t retain his ability to breathe on his own for three weeks.
As they continued their search for the problem, they soon found that his body was not breaking down glycine (an amino acid) because his body was no longer producing the enzyme to do so. That’s when they learned of his diagnosis, which also known as glycine encephalopathy. The disease is extremely rare only affecting about 1 in every 76,000 children and many don’t live to see their childhood years beyond the age of 5.
It was, and still is, a scary time for the O’Sullivan family. Nonketotic hyperglycinemia has limited research, leading to limited treatment. Yet, they did successfully find a neurologist in Chicago that has been treating Drake in the meantime. Breathing on his own continues to be a challenge, so a machine is mandatory in their home. His body is weakened, but he still is learning to play with his brothers and sisters and tries to keep up.