Luka

It is with a heavy heart, putting our pride and dignity aside; that my husband and I need to ask for help. We have been inpatient since the end of May. I even had our 3rd child early, in the same hospital as Luka, due to stress. We have spent 2 nights home together as a family. We hate to have to do this but we need help. Bills, medical bills, gas (driving an hour away each way to the hospital), parking and so on.. we can't afford it. We are drowning. 

Luka was misdiagnosed for his first year of life. We now have the right diagnosis and it isn't pretty. He has what is called NKH. But early intervention is critical with this disease. He didn't get that. 

Nonketotic hyperglycinemia is a rare, genetic, inborn error of glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patient is unable to break down glycine, resulting in its accumulation throughout the body. The buildup of glycine primarily occurs within the spinal cord and brain; thus, the initial clinical manifestations and long-term sequelae from this condition are often neurological. No known interventions are effective in altering the natural history of nonketotic hyperglycinemia, but whatever therapeutic strategies are applied can potentially reduce the comorbidities associated with this condition. It is essential that the clinician recognizes this disease and initiates early evaluation and treatment to attain the best possible outcome. This activity reviews the assessment and management of nonketotic hyperglycinemia and highlights the interprofessional healthcare team's role in improving care for patients with this condition.

We thank you from the bottom of our hearts.