Treatment for girl with rare disorder could help others

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Treatment for Girl With Rare Disorder Could Help Others

Marla Tobia's 9-year-old daughter, Laura, has a rare genetic mutation called ADCY5. Maria says her daughter "has a difficulty walking, and sometimes she has uncontrollable contractions that are very painful."

ADCY5 is a protein-coding gene. The disease is so rare, WFTS reports that less than a dozen people have been diagnosed with it.

For the first time, Laura is undergoing a treatment no other person with ADCY5 has ever had. She's having a pacemaker placed in her brain.

This type of deep brain stimulation is primarily used for movement disorders -- and has been used to treat patients with Parkinson's and Alzheimer's disease.

The electrical stimulations sent from the pacemaker to the brain enable the brain's circuits to control movement, which reduces some trouble symptoms.

Dr. Wendy Raskind, a University of Washington geneticist, explains how the pacemaker will hopefully help Laura's condition and reduce these painful episodes:

"It's somewhat like restarting your computer when something goes wrong, and, for whatever reason, it seems to fix the problem."

According to WFTS, "Doctors and scientists from across the world are hoping Laura Tobia's life can help unlock secrets to a host of diseases."

"They are hopeful that her cells will lead to some sort solution," Maria said.

Her surgery is scheduled for Wednesday. Doctors will be studying Laura's blood, genes and cells in hopes of helping other patients with this rare disease.

Watch below for more on the story:

Family Hopes Pacemaker Helps Girl's Rare Disease

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