HONESDALE—In an effort to increase knowledge and understanding for a rare genetic disorder affecting over 400,000 people worldwide, the Wayne County Board of Commissioners proclaimed at their meeting September 15 will be Usher Syndrome Awareness Day.
Affecting nearly 50,000 individuals in the United States, Usher Syndrome is caused by a mutation in one of at least 10 genes, and can lead to a combination of vision and hearing loss, and unstable balance, states the proclamation.
According to the National Institute of Deafness and Other Communication Disorders (NIDCD), Usher Syndrome is the most common condition to affect both visual and audial capabilities.
“As of right now, there's no cure for this,” stated Lisa Lopatofsky, present at the meeting with two of her children to campaign for increased awareness.
Lopatofsky works for Hands & Voices of Pennsylvania, a non-profit organization dedicated to informing and assisting families with children who are deaf or hard of hearing, including those with Usher Syndrome.
Lopatofsky explained two of her three children, Michaela (4) and Alexandra (2), have been diagnosed with Type 1 Usher Syndrome, the most severe of the three types in which the disorder presents.
“Right now, they are both profoundly deaf,” said Lopatofsky, alluding to her daughter's cochlear implant as the only thing allowing her to hear.
In order to communicate, her daughters “... use a combination of listening and spoken language English and sign language,” she added.
In terms of vision, Lopatofsky explained that for children diagnosed with Type 1 Usher Syndrome, “...between the ages of four and five, they lose their night vision, and between 10 and 12 they go completely blind.”
She noted her children's eyesight has yet to decline, so she is hopeful it will not progress as such.
According to NIDCD, those diagnosed with Type 2 have moderate to severe hearing loss at birth, decreased night vision by adolescence which becomes severe by midlife, and normal balance.
Similarly, Type 3 presents as progressive hearing loss in childhood or early teens, vision loss that often begins in teenage years with night vision problems that progress to severe vision loss by midlife, though actual age of onset and severity vary.
Balance for those with Type 3 is normal or nearly normal in childhood but problems may develop later in life.
Lopatofsky noted her youngest daughter, Aurora, while not diagnosed with Usher Syndrome, is a carrier, “So all three of them are affected in some way by the disease.”
She is hopeful, while there are no cures or treatments at the moment, increased awareness may lead to some in time.
Despite promising research in the field, “...the funding is just not there, so we're hoping if we raise awareness, the funding will come in,” she said.
Commissioner Wendell Kay noted that, despite having myriad health-care professionals in his family, “I had never actually heard of this particular syndrome.”
Speaking to Lopatofsky, the commissioner continued, “The education piece that you are doing...reaches that larger community and helps people like myself grasp what's going on here and what we can do about it.”
Due to the recency of individuals coming forth with the disorder, major public education and awareness events in the Commonwealth are still in the works, said Lopatofsky.
More information about Usher Syndrome can be found on the Usher Syndrome Coalition website, www.usher-syndrome.org.
Further information is available from the Hands & Voices website, www.handsandvoicesofpa.org, and from the Pennsylvania Training and Technical Assistance Network (PaTTAN) website, www.pattan.net.