Families travel to Stanford for study on incurable disease

Saturday, October 24, 2015
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Families from all over the country are traveling to Stanford for a new study on Cystinosis, a rare and incurable disease.

PALO ALTO, Calif. (KGO) -- Families from all over the country are traveling to Stanford for a new study on a rare and incurable disease.

The Partingtons arrived at Stanford University School of Medicine with laughter and jokes. Looking at twins Jenna and Patrick, you wouldn't know they're battling a rare, incurable disease.

But their parents, strong and hopeful, know the reality. The average lifespan for people with Cystinosis is 27 years.

Kevin Partington wonders if he'll ever walk Jenna down the aisle. "You just want them to live a normal life and they don't really know what that is, but we do," he said.

Jenna and Patrick feel like all their classmates. Patrick wants to design rollercoasters when he grows up and Jenna wants to be a makeup artist or a singer.

Cystinosis is genetic. A build-up of the amino acid Cystine in the body causes widespread damage -- first the kidneys then the other organs.

"It builds up and builds up and the lysosomes die and then the cells die, and that causes tissue damage throughout the body," Stanford Cystinosis researcher Dr. Paul Grimm said.

A huge part of aging with Cystinosis is the deterioration of bone and muscle. That's what the study on Friday is about.

Cutting edge scanners capture data on the twins' bone and muscle composition in great detail, just one more piece of information and research that makes their parents hopeful for the future.

"They're still naive to a lot of it and we just soak that up as long as we can," mother Teresa said. "And they're great kids," Kevin added.

Thirty people with Cystinosis are traveling here from all over the country, as far as Alaska. The results from Friday will likely be published in a few years.