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Social media work helps push RE research

Published 11:09 am, Thursday, February 28, 2013
  • The Wohlbergs,(from left) Mike, Grace, Seth and Debra, of Darien embarked on a medical journey after Grace was diagnosed with Rasmussen's Encephalitis, a rare neurological disease that causes seizures and only affects one hemisphere of the brain. Photo: Contributed
    The Wohlbergs,(from left) Mike, Grace, Seth and Debra, of Darien embarked on a medical journey after Grace was diagnosed with Rasmussen's Encephalitis, a rare neurological disease that causes seizures and only affects one hemisphere of the brain. Photo: Contributed

 

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When Grace Wohlberg was 10 years old, she started having seizures. Through a myriad of tests and scans, Grace was diagnosed with Rasmussen's encephalitis, an extremely rare neurological disease that wreaks havoc to one hemisphere of the brain until half of the body is rendered useless.

The only known cure is to remove the effected hemisphere in a radical surgery.

Grace's hemisphrectomy, the only known "cure" for Rasmussen's encephalitis, was performed in February 2009, just eight months after her first seizure.

Rasmussen's encephalitis, which primarily affects children ages 2 to 10, is characterized by frequent seizures, sometimes up to 200 per day, in the affected hemisphere. The seizures plague the victims' bodies, slowly destroy cognitive and physical abilities.

On average, there are 10 to 12 cases of RE per year in the United States, according to Dr. Gary Mathern, director of the pediatric epilepsy surgery program and pediatric neurosurgery program at UCLA. Even more so, Mathern said, no single epilepsy center in the country sees more than one or two cases per year. Mathern has had years where he had no cases of RE.

Since Grace's initial surgery, Seth Wohlberg, her father, set out to do something about the disease that had affected his daughter, and his work has changed the face of the disease through the creation of the RE Children's Project, a nonprofit organization that aims to raise funds and awareness to find a cure and the cause.

There is no known cure for the disease and anti-seizure medications only slow the progression; they do not halt it. The hemisphrectomies are the only options for stopping the seizures.

"What we've learned is that if you let the seizures go, over time they begin to affect the good brain," Mathern said. "The reason for doing the surgery so early is because the disease is going to take out that hemisphere eventually. We're doing what nature is going to do eventually but doing it sooner."

Grace's first seizures started just after her 10th birthday. She didn't have grand mal seizures, which result in total body contractions, but instead had benign seizures. She also experienced EPC, a hallmark of the disease, which resulted in a continuous twitching of her arm.

"It doesn't stop twitching until one day it hangs limp," said Wohlberg. The twitching then moved to Grace's leg. By the time she had her first surgery, Grace was no longer able to walk.

Grace's recovery was long. Wohlberg outlined her therapy in a blog on the RE Children's Project website. Grace was met with long and tiring days of physical and occupational therapy in an effort to rewire what brain was left in order to relearn how to walk and talk.

When the brain is damaged or removed, neuroplasticity takes over. The remaining brain tissue works to rewire itself to learn the functions that the damaged or removed brain once had. The younger a patient is when a hemisphrectomy is performed, the easier the recovery will be.

Some surgeons opt to disconnect the affected hemisphere instead of removing the tissue.

Surgeons disconnect the affected brain from the healthy brain stem, and then from the other hemisphere. The tissue doesn't die, and continues to have seizures, but it no longer affects the good and normal brain tissue.

Grace's recovery has not been as great, according to Wohlberg. She is a freshman at Darien High School, but requires help from a full-time aide.

She is able to walk on flat surfaces, but can have a difficult time with uneven ground.

While removing half of the brain is extreme, it exponentially increases the quality of life for those who undergo the surgery, according to Mathern.

Because of the surgery, Grace permanently lost the use of her left hand and has partial blindness, something common for those who have the surgery.

"She's a great kid, and has a lot of determination and `oomph' in her," Wohlberg said. "Human beings adapt, and she is being forced to adapt. She is dedicated to her own recovery, which is not an easy thing.

Through social media, Wohlberg has created a network of families that have been affected by Rasmussen's. That network is more than an emotional and supportive place -- it has also been instrumental for researchers to access fresh affected tissue, which will aid in discovering the cause and a potential cure.

In the last 10 years, Mathern was only able to collect 12 samples of affected tissue to work with, which made doing any degree of serious research difficult.

In the past year, through Wohlberg's efforts and work with social media, 10 fresh affected tissue samples were collected and delivered to research labs within 48 hours of the surgery.

Some of the tissue came from cases in other countries.

"It became clear that if we're going to do any forward movement on research, collecting specimens was going to be a big deal," Mathern said.

Last May, Mathern and Wohlberg realized that in order to find new cases of the disease they needed to expand their scope to the world.

"Through social media, you can identify and find the parents and direct them to the site," Mathern said in reference to the RE Children's Project website. "Through the site you can begin to have a discussion to be able to have access for the materials for the research."

"It's really kind of interesting to see what we've done," Wohlberg said. Parents and families affected by RE contact Wohlberg because of his presence within the RE community when they have a child going through the same issues as Grace.

Wohlberg helps connect them to doctors, but with each family he asks the same thing: "Please donate the tissue to research."

By collecting the fresh tissue, Mathern said, researchers will be able to regrow the brain to determine what causes the disease with the intention to reproduce it in a mouse to study it further.

Starting the organization that has helped researchers expedite the process of finding a cure was largely done with support from community members in Darien.

While the Wohlbergs were at Johns Hopkins for six weeks for Grace's first surgery, their son, Mike, who was a junior in high school and on the football team at the time, was staying with family friends, including Marj and Rob Trifone, the high school's swimming and football coaches, respectively. The Trifones hosted fundraisers to help the Wohlbergs.

Wohlberg took that money and put it toward the establishment of the RE Children's Project. Wohlberg honored the Trifones at the third-annual Turning Love into Power fundraiser in January.

Researchers have also created recent protocol manual for surgeons know how to appropriately handle the tissue after surgery which will be used to biological and genetic studies. Blood samples have also been collected from parents and the patients for research.

"This would not have been available with any of the archive material," Mathern said.

Recently, Mathern spoke at the Turning Love into Power fundraiser in Darien, where he stressed the importance of contributing to the RE Children's Project because, he explained, "this disease deserves to find a cure."

"I would love to make this an ancestral disease and find a cure," Mathern said.

Mathern entered the Wohlbergs' medical journey after complications following Grace's initial hemisphrectomy revealed that some affected tissue was left behind, resulting in continued seizures.

The Wohlbergs brought Grace to the UCLA to have a follow-up procedure, performed by Mathern, to remove the remaining tissue.

Since the time of the second surgery, Grace's seizures have stopped, according to Wohlberg. Mathern estimates that between 10 and 15 percent of cases require a second surgery.

There is no known cure for the disease and anti-inflammatory and seizure medications only slow the progression; they do not halt it.

The hemisphrectomies are the only options for stopping the seizures.

"What we've learned is that if you let the seizures go, over time they begin to affect the good brain," Mathern said. "The reason for doing the surgery so early is because the disease is going to take out that hemisphere eventually. We're doing what nature is going to do eventually but doing it sooner."

Wohlberg will continue to improve RE Children's Project's outreach. The nonprofit distributes grants to research centers that it has teamed up with to further benefit research possibilities.

"We continue to give away money in hopes that we have some sort of breakthrough or collect some sort of data to be able to go to larger foundations for support," Wohlberg said.

mspicer@bcnnew.com;203-972-4407;twitter.com/Meg_DarienNews