The family of Andrew and Amanda Almany is fighting for the life of their three-year-old daughter, Nora Almany. She was born in 2016 with the rare disease, Nonketotic Hyperglycinemia (NKH).
It is an inborn metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body's tissues and fluids. This creates neurological conditions, including seizures, vision damage and lack of muscle control.
Children with NKH can experience daily seizures up to 100 per day and require 24-hour care. Nora is fortunate to have family members and nursing around the clock to keep her safe and comfortable.
In the search for a cure, the Almany family took the matter into their own hands and started a foundation to help Nora and many other families across the nation. Since October 2016, the Nora Jane Foundation has been raising awareness and funds for NKH research. Due to the rarity of the condition, all funding for research falls into the laps of the families of these children. With Covid-19, fundraising has been impacted deeply.
Determined to keep research alive, the Almany family will be hosting a virtual walkathon using Zoom technology this weekend. This technology allows for a virtual fundraiser while honoring social distancing requirements in every state. The event is scheduled for Saturday, May 23 at 10:00 am. To sign up or sponsor our event, visit norajane.zoomwalkathon.com
Gene Replacement Therapy is the answer and the cure for many children and adults living with an orphan disease in the United States. Each advancement in gene therapy for any disease widens the field for all other rare diseases. The Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame is actively working on gene replacement therapy. They have partnered with the Orphaned Gene Center at the University of Pennsylvania.