I’m Julia – an advocate for NKH Awareness
March 6th, 2017
Written by Julia (Jules) Ansbacher
Hello everyone. My name is Julia Jules Ansbacher. I am 37. I have a rare childhood disease called NKH that my family and I found out when I was sick for 5 weeks in hospital just before my 33rd birthday. The doctors didn’t know what was wrong with me until someone said it’s a long shot but test her for NKH.
NKH stands for Non-Ketotic Hyperglycinemia. Medical staff always get it confused with hypoglycemia and try to give me sugar, which isn’t right. My body can’t process the amino acid glycine. This is caused by a defect in the genetic code that is supposed to break it down. People with NKH can have disrupted brain functioning, severe developmental delay, seizures and other issues. Many children are severely affected by it. For me, I get tired easily, I have low energy and I can get shaky if I don’t take my medication. I take 12 pills four times per day which costs over $500 per month.
There are so many kids out there that are born with NKH just like me and I am writing this so I can spread awareness about NKH. This disease can lead to death. There is no cure for it and there is not a lot of funding or research for it. There are less than 500 known cases in the world and the only funding for research comes from families with NKH. There are only two doctors who are researching it. I really hate knowing that I could die from NKH, and that others could also be affected by it too.
There are a lot of families out there who have kids that are worse off than me and for that I give them a lot of respect to go through that with them. Now I’m a self advocate. So I hope if anyone out there can help me spread awareness for NKH I would love to know. SO PLEASE HAVE A HEART AND HELP ME with spreading awareness for NKH so no kid will ever lose their lives to this again and families can live happy.
More information: http://www.nkh-network.org/
PLAN enables families to create a good life for people with disabilities. . Work with us to give your loved one a network of caring relationships, a sound financial plan, opportunities for contribution and supported decision-making, and a place to call home…. . .
Sign up for the PLAN Ezine