Katy had severe muscle weakness from birth and was unable to move her arms and legs. Because the weakness also affected her diaphragm and respiratory muscles, she died of respiratory failure at 6 months.

Katy had a hereditary muscle disorder called nemaline myopathy that results in abnormal development of muscle fibres. In 1999, we identified the genetic basis of Katy’s muscle disease.

When we contacted Katy’s mother to tell her the news, she told us that she was pregnant again and was anxious and worried that she might have another child with the same problems as Katy. We were able to perform genetic testing on the unborn baby and found that this baby did not have the same genetic mistake that Katy did.

Katy’s parents were able to have a worry-free pregnancy with this finding and they now have a healthy newborn baby!