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One story of Schwartz-Jampel Syndrome

last modified: 2005-05-24 03:17 PM

This is a rough draft of the events that occurred to our family which changed our lives and understanding of Schwartz-Jampel Syndrome.

My dad is in his sixties now and as a child his doctors didn't have a name for his condition. Eventually, he was diagnosed with Thompson's Disease.

There was no further information learned about his condition for several years. Let's jump ahead now to the 70's. A few years after I was born in 1973, dad started seeing the doctors at the Indiana University Medical Center here in Indianapolis, Indiana. In 1977 his diagnosis was changed to Schwartz-Jampel Syndrome.

We learned that one of the major features of SJS is the constant electrical activity in the muscles.

He began taking various medications to help with the symptoms of SJS. We eventually found that Dilatin helps relieve a great deal of stiffness in our muscles by reducing the electrical activity in the muscle tissue. We continue to take it to this day. I also take Skelaxin. Dilatin is given to epileptic patients to control the electrical activity in their brain. Apparently it works in muscle tissue as well.

In 1990, a paper was written about us in the medical journal Muscle Nerve titled Schwartz-Jampel syndrome with dominant inheritance.

In 1993, they took muscle tissue and blood samples from us to be used in a genetic study for SJS.

In December of 1995 we almost lost dad due to complications from SJS. For about a year prior to that time, he didn't act like himself. He was lethargic but super anxious. It was hard to wake him and he didn't like to go to sleep because he feared that he might not wake up again. Finally, he agreed to go to the hospital. The next day they couldn't wake him and he was sent to the intensive care unit. His carbon dioxide level was three times more than the normal level.

The doctors could not figure out what was happening to dad until they noticed the similarities between SJS and other neuromuscular diseases. In other neuromuscular diseases, the patients carbon dioxide level rise because their lungs cannot exhale efficiently due to muscle wasting or atrophy or because they cannot control their muscles. In dads case, the muscle stiffness restricts the movement of his ribcage and diaphragm and, therefore, his breathing and led to the rise of the carbon dioxide level into toxic levels over a period of several years.

Near the end of December, the doctors put dad on a ventilator at night while he slept. The mask was strapped to his head and fit over his nose. Over the next month, the doctors and respiratory technicians worked to find the appropriate ventilator settings. Fortunately for dad, mom and me, his carbon dioxide level slowly decreased.

At the end of January in 1996, dad was discharged. His carbon dioxide level is stable and above normal but acceptable. He wears the vent when he sleeps due to the mechanical disadvantage of sleep on breathing.

Dad uses oxygen all the time now. His legs are permanently swollen due to his enlarged heart. One thing I have to tell you is that he has never stopped working until retirement despite the problems he had. He worked over 30 years at the hospital.

As for me, my carbon dioxide levels are normal and I use a cpap and oxygen when I sleep.