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Surgical procedure could help local girl dance

Operation could help treat Canyon Country girl with chronic pain disorder

Posted: June 12, 2009 8:25 p.m.
Updated: June 12, 2009 8:22 p.m.

Emily Goldstein, 12, will be undergoing a brain-stimulation procedure in July to correct a rare medical condition known as dystonia, which painfully limits her ability to get around.

 

About two years ago, 12-year-old Emily Goldstein’s grandparents noticed a subtle twist in her foot as she walked.

Marci and Steve Goldstein, Emily’s parents, noticed it too. They weren’t sure what was causing it. They blamed Emily’s awkward gait on the flip-flops their daughter wore.

A trip to the pediatrician, and eventually an orthopedist, found nothing.

The Canyon Country family was told that her daughter would just grow out of it.

But Emily’s walking worsened as the Goldsteins continued to take their daughter from doctor to doctor in search of solutions.

The twisting, spasms and pain became so severe that by age 11, Emily would walk on the side of her left foot, which was constantly bothered by blisters.

Walking remained difficult, as some days her foot would be completely twisted, almost to the point where it was inverted, her parents remember. Stress and physical activities just made it worse.

After a series of visits to the doctor, culminating with a trip to see a movement-disorder specialist at the University of Southern California, the Goldsteins finally got an answer to their questions. The specialist matched Emily’s symptoms to a disorder called dystonia.

Dystonia is a movement disorder that causes muscles to contract and spasm involuntarily, according to the Dystonia Medical Research Foundation.

The foundation estimates that about 300,000 in North America are affected.

About two years after Emily’s grandparents noticed her awkward walk, a costly genetic test determined that Emily tested positive for the DYT1 gene connected to dystonia.

“At this point, we needed to be more aggressive,” Steve Goldstein said, because Emily’s condition was worsening.

The pains stem from the twisting of her limbs and the spasms that come with them, Emily said.

Marci and Steve Goldstein frequently massage and stretch her legs to ease the reoccurring pains.

Her personal life has been impacted as Emily misses hanging out with her friends on a regular basis.

“It’s hard to keep up with them,” Emily said.

Emily’s worsened so much that she was unable to write with her right hand. She was forced to teach herself to write with her left hand, she said.

She had already undergone surgery when she was 11 to install a screw in her left heel to keep it straight.

Now, the contortions have stopped, but the spasms and pain continue, she said.

But there may be some relief in Emily’s future.

Emily will travel to San Francisco with her family in July to undergo a surgical procedure called deep brain stimulation.

It’s like a pacemaker for the brain, designed to prevent further symptoms from developing, Marci Goldstein said.

“This is not a cure. This is a symptom-stopper,” Steve Goldstein added.

The procedure requires drilling two holes into the skull to make way for the implant of electrodes, Marci Goldstein said. The electrodes will then send impulses to the parts of the brain associated with the disorder, she said. The surgery allows for doctors to pinpoint the exact spots that need stimulation, she said.

The probe is powered by a battery pack implanted near a patient’s breastbone. The battery pack sends specially programmed electronic impulses to the probe.

The stimulation has been used on patients with Parkinson’s disease, but has been expanded to treat dystonia patients, she said.

Patients who have undergone deep brain stimulation have seen a significant benefit within a month or two, Steve Goldstein said.

“They’re just seen great success. We’re just hopeful that it’s going to work,” Marci said.

But if getting to the root of Emily’s physical struggles has been difficult, another difficult struggle involved finding someone Emily and her family can relate to.

The family has searched Southern California in hopes of finding a support group without success. The Goldsteins suspect that the reason for that may be a  lack of knowledge about dystonia — and also its frequent misdiagnosis.

That’s why they hope to start their own group in the Santa Clarita Valley. The Goldsteins set up the e-mail address, kidswithdystonia@gmail.com, for anyone interested in sharing stories.

As the family prepares for next month’s surgery, the family has hopes that their daughter will be able to lead a normal life.

But there’s one thing Emily hopes the surgery will allow her to do.

“I want to dance,” she said.

 

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