Case Studies

Toni & Stuart

View the video of Toni & Stuart

Toni and Stuart became worried about their baby Deborah when they noticed she was not progressing through the normal stages of development. Their friends had children the same age who were beginning to sit up, beginning to talk, beginning to walk and take general steps in their development. Doctors suspected that Deborah’s poor development was due to a hearing impairment. Unfortunately it wasn’t her hearing. Deborah was sent to a specialist for further tests.

Eventually the specialist approached Toni and Stuart with the news that baby Deborah had a generic brain disease called Tay Sachs. They were told that she would die within three years. The couple recounted how they just stood there crying upon hearing the news. "It’s just heartbreaking, just heartbreaking, to see our lovely child, ...so beautiful, laying there."

Toni and Stuart talk about how upsetting it was to have to tube feed Deborah. "It’s your flesh and blood...so you do it...it’s upsetting, it’s very upsetting."

As the illness went on, baby Deborah didn’t even notice her parent’s presence, and towards the end of her life, things got a lot worse.

After Deborah’s death, Toni and Stuart conceived their second child. Unfortunately they were not aware that there was a one in four chance that this baby might also be affected with the disease. "We had a little boy and it was the same thing...but he deteriorated much quicker than her, he had to go into hospital" says Toni.

"He was in there for seven months and....cos....I just couldn’t cope with him at home and I used to go everyday for seven months and again he didn’t even know you were there...and it’s really heartbreaking."

Stuart describes his experience with the disease saying they went through "six years of hell." In the hope of preventing other parents and children from dealing with this incurable disease, he urges people to be tested. "People should come forward today and have this blood test done."