Spinocerebellar Ataxia Has Affected My Whole Life

Martha singing opera

Martha was first diagnosed with spinocerebellar ataxia at the age of 38, and has evolved from patient to advocate since her diagnosis more than 30 years ago. Spinocerebellar ataxia has affected four generations of her family, so she chose to share her story, and her role in advocacy with Global Genes.

Until 1986 I led a wonderful life. I got to sing – for my supper – in musicals and opera. Now a hereditary neurological disease was making theater directors declare me unfit and a danger to others on stage. spinocerebellar ataxia was taking control of my movements. My balance was off! Stage podiums were becoming more technical and required total bodily control. My singing career was over and my life became one big depression and consumed with my disability.

As the progressive nature of the disease continued so did my search for a purpose in my life. My loss of gainful employment led to being an Ataxia patient advocate. Hopefully my ataxia awareness website has helped others to understand the ataxia disease.

A new purpose in life was rekindled in me. I had lost all hope and belief that research could find , in my lifetime,  a solution for people with neurological disorders. There is no treatment or cure for these kind of diseases. Children with neurological conditions and children with rare undiagnosed diseases are hoping that gene therapy is available to help them.

With this mission in mind the Global Gene Research Initiative was developed. The Global Gene Research Initiative  (GGRI)  gives new hope to children and young people affected by genetic neurological disorders and the rare disease community.

Now at age 72 I have found a new passion to advocate for — gene therapy!

Together with the biotech, pharmaceutical drug manufacturers, researchers at children’s hospitals , logistics , charities and foundation institutions globally — all under one roof with one resource information hub — can come together. We are all pinning our hopes on gene therapy.