Joshua’s GSD specialist from Florida wrote these words to be read at his funeral. If we’d only been able to deal with this doctor early in Joshua’s care, things might have been different. I’ve never known a doctor so unique and truly caring about GSD patients. And I thank him for being there, so many times just a phone call away. Joshua thought the world of this man. For the first time in his life, he'd found someone that genuinely cared.
~Becky

On September 30th, 1989, a beautiful 8 pound, 8 ounce baby boy was born. Almost immediately after birth, Joshua was noted to be extremely sweaty, and he subsequently was found with a dangerously low blood sugar level. As would happen often in his short life, Josh’s problems were not taken as seriously as they should have. When he ate, he appeared well, and no work-up was performed. He was sent home, but his struggles only got worse. Chronic irritability, diarrhea, abdominal distention, and developmental delay were occurring, but the health care system blamed his problems on parenting or constipation. Only after about 1 year of struggling was the true cause of Josh’s problems appreciated - glycogen storage disease.

A review of the GSD registry shows no one else with his condition presently in the state of West Virginia. Type I glycogen storage disease is a rare disorder that affects 1 in 100,000 people, but many children still die in infancy from not getting diagnosed. When people without GSD eat a meal, sugar is stored in the liver, and it is released slowly during periods of fasting to serve as energy for the body and brain. People with this disorder are unable to release this stored sugar from the liver, and fasting results in rapid development of low sugars and the brain starves. The abnormalities also lead to a build up of lactic acid, and chronic pain can occur when treatment is not ideal.

One of the problems with rare conditions is the lack of medical expertise. While there are no GSD specialists in West Virginia, Josh initially was fortunate to meet Dr. John Baker who made the diagnosis and instituted care. After 4 years of age, however, Josh was left without a specialist for his disease. Suboptimal care occurred, and Josh was over dosed on the cornstarch just to stay alive. Excessive weight gain occurred, and his body was slowly being destroyed by poor control of his GSD.

Josh hated having glycogen storage disease. He did not want to be different so he tried to hide his problems. Bullying at school and constant teasing about his weight and sweatiness became commonplace. By his early teenage years, Josh rebelled against his disease. Fitting in was his priority rather than caring for his medical condition. The more that he tried to hide it, the worse he got, and Josh sunk into chronic pain and despair.

In 2007, I had the pleasure of trying to help Josh. Josh and Becky traveled to Florida for care for his GSD, and initially the response was dramatic.

Josh finally had some hope, and he clinically improved. While the physical part of GSD improved, Josh still struggled emotionally with hatred for his disease. 17 years of low self-esteem could not be corrected by cornstarch, and Josh remained fixated on his body image instead of on his many strengths.

While I only was briefly involved with his care, I have had the pleasure of knowing Josh for the past 8 years. Through phone calls and interactions at the national meetings, I was able to see a side of Josh that often was not appreciated. Josh was one of the most caring individuals that I have ever met.

Ensuring that his mother was taken care of was his greatest priority, and I have never known a better son than Josh. Josh was also extremely popular with the other children who have GSD. It seemed like every teenager with GSD was a friend of Josh, and he often helped them to cope with their own GSD.

At the national GSD meetings, Josh was the center of the teenage social group. In fact, Josh was so popular, that my son asked if we could have dinner with him at the 2005 meeting in Philadelphia. In Hershey in 2007, a new side of Josh was appreciated. During the talent contest, Josh amazed everyone with his guitar playing.

As we move forward, we all need to remember Josh in our hearts and actions. We should strive to be as caring to others as he was and to hold our families as close as he did. Josh is in a better place now, where the complications of his disease are no longer. We must take solice in knowing that he is in a place of peace and rest. Let’s remember his courage, his love, and most of all his compassion for others.

Eulogy by David Weinstein, M.D. and Friend