Laura King Edwards was a high school junior when her sister Taylor was born in 1998.

Despite the age difference, they became very close.

When Taylor was 1, Lauras summer job was babysitting, five days a week, 10 hours a day. They spent afternoons curled up on the couch, watching TV or taking naps.

She called me Rar Rar before she could say my name, Laura recalls. I called her T.

Taylor taught herself to read at 3 and excelled in kindergarten. But in first grade, she began having trouble with homework and with her vision. She was diagnosed with retinitis pigmentosa, an inherited disorder that causes a gradual vision loss.

But that turned out to be wrong. In 2006, just three weeks before her eighth birthday, Taylor got an even more devastating diagnosis neuronal ceroid lipofuscinosis, also called Batten disease.

When Laura Googled the words, she read only a few sentences before she started to cry.

Batten disease is a rare, inherited neurodegenerative disease that results in the death of neurons in the brain, retina and central nervous system.

Early symptoms are vision loss, seizures, clumsiness and personality changes. Eventually, it leaves children blind, bedridden and unable to communicate. There is no known cure or effective treatment.

To get the disease, Taylor had to inherit a defective copy of a particular gene from each of her parents. Her sister Laura got one good copy and one bad copy, so shes a carrier, which means shes healthy but could pass the gene on to her children.

Read the original here:
Charlotte family funds research into gene therapy for rare Batten disease

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