It is Mitochondrial Awareness Week and I wanted to post a little about Cara to those who are visiting our blog for the first time:
Our beautiful daughter, Cara Mittneen Williams, was born on August 25, 2010. We first suspected something wrong when Cara was not able to hold her head up and had a hard time feeding, at just a couple of months old. She had her first MRI when she was 4 months. The MRI showed significant global brain damage. Shortly after that, Cara started to develop seizures and was tested for metabolic dysfunction. We were referred to a metabolic doctor and started down a long road of testing. After over a year, it was discovered that Cara has a disorder of pyruvate metabolism. Her body is not able to convert carbohydrates and sugar into energy. This has caused her to have a high acid level in her blood and spinal fluid, low muscle tone, temperature intolerance, a poor swallow and seizures. She is at a high risk for respiratory problems and complications from being sick, even the common cold. She is not able to sit up or stand unassisted, she isn’t able to speak yet, she eats through a port in her stomach called a g-tube and is on a special diet that allows her to burn fat to get the energy her body needs.
Cara also laughs, gives her mommy attitude, dances when she hears music and makes everyone who sees her fall instantly in love.
Mitochondrial Disease affects people of all ages. There is very little in the way of treatment and no cure. The diseases are progressive and while some go on to live relatively long lives, many do not live to see their teenage years. Please visit http://www.umdf.org or http://www.mitoaction.org for more information.
To learn more about our family’s journey please read through the past posts on this blog.
Hope. Energy. Life.