Address

3983 Meadowvale Court
Akron, OH 44333

Website

www.brodynsfriends.com

Description

A 501c3 charitable organization that gives caring people like you the opportunity to make an immediate difference in the lives of children and their families affected with NKH.
Mission
Our Mission:
Find a Cure for Nonketotic Hyperglycinemia (NKH) and to provide comfort and resources to families with children suffering from the disease.

NKH is a rare and still incurable metabolic disease affecting less than 200 children nationwide. 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). Children affected with this disease are missing the enzyme that breaks down g...lycine. This buildup of glycine in the brain and CSF cause neurological impairment which is seen almost immediately after birth. The prognosis is poor and most patients die in the first few weeks of life. Those who survive have intractable seizures and poor neurodevelopment outcomes. NKH has a wide spectrum of severity ranging from the most severe cases leading to an early death to a more rare and mild form of the disease leading to mild mental retardation and developmental disabilities. Progress has been made over the last decade for better treatment options but no cure has been found. A few medications have been found to help with the symptoms although these medications must be started early in life to show any benefit. It appears that the best that can be hoped for NKH children is simply to employ comfort measures along with other medications as they become available. We can only hope that even more accurate diagnosis will be available very soon, and that in the near future, this terribly sad disease will be wiped out completely!

Our Vision:
That one day Children with NKH are able to live normal healthy lives due to treatments discovered from the research that is funded from Brodyn's Friends. Through the tireless efforts of many dedicated people, a cure and better treatment options are found.

Category

Health & Disease