Usher Syndrome awarness stressed - Wayne Independent

WAYNE COUNTY—More than 400,000 people worldwide and 50,000 in the United States are affected by a rare genetic disorder known as Usher Syndrome, a leading cause of combined deafness and blindness in individuals.

To raise awareness for this disorder in the hopes of generating funding for research into treatment and corrective measures, and to support those affected by it around the world and right here in Wayne County, the Board of Commissioners joined myriad officials worldwide in recognizing September 21 as Usher Syndrome Awareness Day.

“It's become a nation-wide thing,” explained Lisa Lopatofsky, an Usher Syndrome advocate and mother of two daughters affected by the disorder and third who carries it asymptomatically.

Lopatofsky explained advocates are “...just trying to raise money so that we can get the word out there to then get the funds to come in to start doing treatments.”

She later added, “There are different Usher weekends that we're starting to put together now so that families can basically do what I'm doing, get together, share their stories, pass on the information.

“Families seem to be putting the word out because... drug manufacturers don't get involved until our voice starts to get louder...”

According to the Usher Syndrome Coalition, there are three clinical types of the disorder.

Those with Usher Syndrome Type 1 and Type 2 are born hard of hearing and develop vision loss shortly thereafter from retinitis pigmentosa (RP).

The difference between Type 1 and Type 2 is that those with Type 1 typically develop vestibular issues which affect their balance.

Usher Syndrome Type 3 is the rarest form of the disorder, leading to hearing loss in late childhood or adolescence and RP that occurs between ages 20 and 40.

“Right now they're doing a lot with Type 2,” said Lopatofsky, noting there are trials underway in adult patients to find treatments for the currently incurable condition.

“You start with adults and then if it works, you tailor it to pediatrics,” she said. “So hopefully by the time the kids are a little bit older, there will be something out there.”

Lopatofsky explained her daughters, Michaela, age five, and Alexandra, age three, both have Type 1B, “which is the most severe.”

She explained it took 18 months and three genetic panels to learn Usher Syndrome was the cause of Michaela's hearing impairment after she failed a newborn hearing screening.

The process worked much quicker for her second and third daughters.

“The diagnosis is that between the ages of four and five they'll lose their night vision and then between ten and twelve, they'll be completely blind,” Lopatofsky explained.

Both Michaela and Alexandra have been lucky to not yet experience vision loss.

Lopatofsky noted this is “...kind of a big deal...They're following our case very closely right now because it's not a typical scenario.”

Should the girls make it to 15 years old without vision loss, they may not get it at all, she said.

“My goal is to advocate,” said Lopatofsky, a committee member for the Pennsylvania Deaf-Blind Project and a board member for the Pennsylvania Partnership for the Deaf-Blind.

She gives several presentations annually on Usher Syndrome both for family members of those with it and future doctors treating it.

She speaks frequently at the University of Scranton and the Geisinger Medical College.

“I'll go and speak before the first-year medical students there,” said Lopatofsky. “I get to present on the kids and this very specific disease that gets the word out there so doctors are a little more knowledgeable about this and they know what to look for.”

Making the proclamation at September 19 board meeting, Commissioner Chairman Brian Smith stated, “Well, it's very, very unfortunate that you have to deal with this. But thank God you have beautiful children and you're taking care of them and you're willing to share your story, because that will create awareness and help in the long run. Thank you very much for all that you're doing.”

Commissioner Wendell Kay added, “There are a lot of problems in the world...but I think it really helps people like myself focus on them when you can talk face-to-face with somebody who is working on dealing with it every day.”

Commissioner Joseph Adams likewise added “We appreciate you educating all of us and getting the word out. We wish you all the best.”

More information about Usher Syndrome is available online at www.usher-syndrome.org.

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