Rare disorder alters daily life of Wadley boy

WADLEY–T.J. McKinney appears to be like any other 4-year-old child. He loves Alabama football, playing with cars and monster trucks, and aggravating his 7-year-old sister, Amelia.

T.J. and his parents, Justin and Jodie, have had quite a lot to deal with during this past year. It became obvious to them that T.J. was falling often because his balance was poor; he had limited vocabulary, which was not showing any signs of progressing, and had an extreme lack of energy for his age. After several visits to his pediatrician, T.J.’s parents were told he was a normal little boy.

In April 2012, T.J. suffered a seizure-like episode at home, in which his body went limp and he could not even lift his head. His parents rushed him to the emergency room at Clay County Hospital, where he was transferred to Children’s Hospital in Birmingham.

Three months later, in July 2012, after three admissions to Children’s and every test imaginable, T.J.’s family was told that his little body was harboring a rare genetic disorder called glucose transporter deficiency DS (Glut 1). Simply put, the cells in T.J.’s little body do not pick up and transport the glucose in his spinal column to his brain. Glucose is the source of fuel needed for the brain to function. The only alternative source of fuel is high fat, which is found in a very restrictive diet called the ketogenic diet. This diet is high in fat and allows no sugar or caffeine, contains small amounts of protein and has low carbs.

T.J. was placed on the ketogenic diet immediately after his diagnosis and began showing improvements within 10 days. His calories and food intake are extremely limited due to the high fat nature of the diet. In order to stay in ketosis, T.J. eats three meals and two snacks daily, which include a shot of canola oil mixed with heavy cream. T.J.’s mother said he had adapted quite well to the diet. She added, “It has actually been harder on me than him. I have sat and cried many nights, just thinking about what he has to go through. Most children his age want cookies and ice cream, but not T.J; he is content with what he has.”

Assisting in T.J.’s progress have been his grandparents, Elizabeth Karr of Wadley and Timothy and Debbie McKinney of Lineville.

The ketogenic diet has enabled T.J. to developmentally progress and to run and play as other 4-year-olds. His speech has even greatly improved, with the help of his speech therapist. Ann Fisher, director of nursing at Clay County Hospital, said, “Being an outsider and looking in, it is amazing to see how much progress T.J. has made. He seems like a totally different child.”

T.J.’s meals and snacks alone cost around $50-$75 each week because his menu is entirely different from that of his family. His meals are also prepared separately because each meal and snack have to be weighed using a gram scale. T.J.’s parents, grandparents and even his sister, Amelia, are all on board concerning his diet. They know this diet is the key to his success of leading a healthy life with Glut 1.

Children’s Hospital has confirmed that T.J. is the only child ever diagnosed at their facility with Glut 1. There have been less than 100 cases diagnosed in the nation since the disorder was first identified in 1991. T.J.’s family is often asked if he will outgrow Glut 1. The answer is no. It is genetic, and the only option is a cure. Research to find a cure has progressed over the 20 years since Glut 1 was discovered, and T.J.’s family pray they will see this miracle happen for T.J. and the other children with Glut 1.

The McKinney family has been researching and reading everything they can about Glut 1 for almost 12 months, hoping to learn something new to benefit T.J. They have recently received information about a conference being held on July 11-12 in Houston, Texas, where families and their children with Glut 1 can come together for two special days to learn from physicians, nutritionists and others who specialize in this rare disorder. They can meet and network with other families who all have one common goal: to provide anything and everything possible for their children with Glut 1.

Friends from Randolph and Clay counties wishing to help T.J. and his family attend the Glut 1 Conference in July may mail donations to P.O. Box 198, Wadley, AL 36276, c/o T.J. McKinney.