- Associated Press - Saturday, January 23, 2016

FLORENCE, S.C. (AP) - One day, in June 2015, Shasta Partee’s daughter, Nae’mya Shabazz fell ill.

As the family relaxed at home, visiting with Partee’s sister from Ohio, the 10-year-old’s leg began to shake.

Partee took Shabazz to the hospital to be tested. Neither Carolinas Hospital System nor McLeod Medical Center could explain what was happening to her child.

The family logged hundreds of miles traveling to hospitals across the state and the eastern United States trying to find answers. In the process, Partee began to feel hopeless, and she lost her job because of her frequent absence.

Fast forward approximately six months, and some of the family’s questions are finally being answered. Shabazz was diagnosed with primary generalized dystonia at Wake Forest Baptist Medical Center in Winston-Salem, North Carolina.

Now, as she continues to search for help for her daughter, Partee also hopes to spread awareness about dystonia.

Dystonia is a neurological condition in which a person’s brain causes a sustained contraction of muscles that do not normally contract together, said Dr. Ihtsham Haq, a movement disorder specialist at Wake Forest.

The contraction can produce twisting movements, cramping and even tremors, he said, and it’s often misdiagnosed.

“There are a few reasons for this,” Haq said. “The condition is not as well-known as it might be, and it can be mistaken for other conditions. It can look different from person, even when multiple family members are affected.”

There are several kinds of dystonia, but one recent estimate puts the prevalence of primary dystonia in the population at between 15 and 20 per 100,000 people, Haq said.

Because it is a movement disorder, it falls into the same category as diseases like Parkinson’s. But, Haq said, dystonia is much less prevalent than Parkinson’s, which has a prevalence of around 1600 per 100,000 people.

Partee said she ran into problems in her search for help because those who have never dealt with the disease do not feel qualified to diagnosis it.

“It’s a specialty field,” Partee said.

Jessica Feeley, editor and special projects at the Dystonia Medical Research Foundation, agreed with Partee. She said a lot of the problem with misdiagnosis has to do with a person’s proximity to a large movement disorder center.

“A lot of it has to do with geography and where you live,” Feeley said.

Centers such as Wake Forest are research hubs, she said. It’s important to realize that the research on the disease is being done, Feeley said, and doctors are making great progress in expanding treatment.

But ultimately, as with any disorder, doctors, researchers and patients want a cure.

“There’s a whole field of people interested in finding a cure,” she said.

It begins to with raising public awareness and medical education, she said.

Dr. Dick Schroer, who works at Greenwood Genetics Center in Charleston, saw Shabazz back in July.

“There is a family history of a movement disorder, and it’s suspected to be dystonia,” Schroer said. “So that would be a reason to see a geneticist because it may be a family condition or an inherited condition.”

Because Schorer is not a neurologist or movement disorder specialist, he did not feel comfortable commenting specifically on Shabazz’s condition.

But he did say it can be difficult to diagnose movement disorders. Schorer said it can also be difficult to distinguish neurological movement disorders from voluntary movements of the individual or movements that are related to emotional problems.

“The mother is a strong advocate for her child and is trying the answers,” Schroer said. ‘She keeps me posted on what other doctors have found and what they’ve had to say.”

After being diagnosed with dystonia, there are a variety of treatment options. Some have botulinum toxin (botox) injections, which relaxes the muscles that have been tightened.

Others have deep brain stimulation, which implants electrodes into brain in the same way a pacemaker is used for a malfunctioning heart.

For many, medication works.

“The treatment is really individualized,” Feeley said. “Each case of dystonia is a little bit unique. A physician needs to tailor the treatment to that person’s symptoms.”

Thus far, Nae’mya has just been give medicine, as doctors work to find out what might be causing her particular kind of dystonia, Partee said. She continues to have “episodes,” particularly in the evening when she is fatigued.

Partee said she just wants to feel like she can breathe again. It is terrible knowing your child is in pain, and there’s nothing you can do, she said.

Her daughter used to be a dancer and a gymnast, Partee said, and she was constantly moving and jumping around the house.

“As a mother, you scream and say ‘quit doing back flips in the house,’” Partee said. “But now, I’d love to see her to do a back flip in the house again.”

Mostly, Partee wants to spread awareness and do her part to help prevent others from going through a similar struggle.


Information from: Morning News, https://www.scnow.com

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