Raising Awareness, Raising Hope

Published Tuesday, August 15, 2006

At an early age Susan Tomlin knew that something was wrong with her legs. “In school instead of running I sort of waddled and I would fall down a lot.” From a very early age Susan’s mum had been taking Susan to doctors trying to find answers to her mysterious problem. Susan was unable to run, jump, or participate in sports. She had poor balance and often fell and as she became older she had a harder time getting up after a fall.

Susan and her mum were constantly told by doctors that nothing was wrong. When Susan was twelve a Pediatric Neurologist suggested that she had a weakness from birth. Susan and her mum decided to stop seeing doctors as they were getting no answers.

It wasn’t until Susan was twenty, and in college, that she realized she needed to seek another doctor’s opinion. Susan had begun experiencing difficulties walking. In order to walk Susan would have to exclusively concentrate on her steps, counting out each step the entire way. She required more and more breaks as she walked and felt all her energy being drained by the concentration required to put one foot in front of the other. Susan was unable to rest sitting down as her legs would not support her when she tried to rise from a seated position.

Susan went to a Neurologist at Vancouver General Hospital. The doctor “had a couple of student doctors with him, and they huddled in the corner and then finally he came back and said you have Kugelberg-Welander Disease and left. I sat there wondering if he was coming back and what Kugelberg-Welander Disease was”. The only other information that the doctor told Susan was that she would be in a wheelchair within five years.

Susan left the hospital shocked, her mind mind was racing with questions. She had no idea what the diagnosis meant or how it would affect her life. When Susan arrived home she tried to find information about Kugelberg-Welander Disease but at that point there was no information available, even Susan’s family doctor had never heard of the disease. Susan was left feeling lost, alone, and with many unanswered questions.

Kugelberg-Welander Disease is a type of Spinal Muscular Atrophy, a form of Muscular Dystrophy that is inherited and which destroys the nerves controlling voluntary muscle movements, such as crawling, walking, and swallowing. There are four types of Spinal Muscular Atrophy, the first type being the leading genetic killer of children under the age of two. Kugelberg-Welander Disease is the third type and the least deadly form of childhood-onset Spinal Muscular Atrophy.

August is Spinal Muscular Atrophy awareness month. The Muscular Dystrophy Association hopes that by raising awareness a treatment will be found.  While there is currently no cure for Spinal Muscular Dystrophy, “new understanding of the disease has lead to breakthroughs in potential treatments”. Increased awareness will also lead to less patients feeling as lost, confused, and alone with unanswered questions as Susan was twenty years ago.

Susan’s body has progressively become weaker and she now relies on a scooter and wheelchair. Even though Susan’s body is gradually weakening she continues to take pleasure from the things she loves: her garden, her pets, her art, and visits with her mum.

Susan is glad that there is more available information and support for those with Kugelberg-Welander Disease. She shares her experience online with an international support group and more than twenty years after being diagnosed Susan is feeling less lost and alone.