For more than 20 years, Anisa has lived with a neuropathy (nerve disease). The type of nerve disease she was believed to have causes weakness and loss of sensation, particularly in the arms and legs. This type is the most common inherited neuromuscular disorder and thought to affect around one in 2,500 people.
Anisa was originally diagnosed as a child, based on her symptoms. Over the past 20 years, she has undergone numerous blood tests and biopsies in an attempt to find the specific cause.
Through the Demonstration Project, virtually all Anisa’s genes were sequenced but, for ethical and practical reasons, only the sixty or so genes known to cause this condition were analysed. Anisa’s doctors were surprised that there was no change found in these genes.
Traditionally, only a limited number of genes are sequenced and nothing further is possible. However, in a genomic sequencing test, all the genes are sequenced and the raw data is stored. Therefore, it was possible to re-analyse Anisa’s data. This involved an analysis of a wider set of genes and genes discovered after her data was first analysed.
As a result of this re-analysis, a gene variant responsible for Anisa’s condition was found.
She now hopes that her result will help more people, especially children, receive diagnoses more quickly, avoiding the burdens associated with prolonged investigations.
We sincerely thank Anisa for sharing her story.