Early diagnosis is critical for children with Usher syndrome as it allows parents to investigate options for communication, therapies for balance issues, and to recognize the signs of night blindness and peripheral vision loss.
A definitive diagnosis of Usher syndrome early in life can help parents to make informed decisions with and for their children:
Hearing loss/deafness is the first "symptom" of Usher syndrome. In countries with mandatory newborn hearing screening, hearing loss is detected soon after birth. This information provides parents with the opportunity to learn about communication options for their child - sign language, spoken language, or a combination of both. Researchers emphasize the importance of early and consistent exposure to language in the first months and years of life. Knowing whether your child has Usher syndrome and the impact of progressive vision loss on communication will be an important factor in this decision.
In years past, many parents of children with Usher reported suspecting that their young child had problems seeing at night, but it may have taken months or years until a definitive diagnosis was made. Children with undiagnosed Usher were often labeled as "clumsy" or accident-prone when it was really their RP that was affecting them. Today, early genetic testing allows babies to be diagnosed with Usher prenatally or within the first months of life. Empowered with this information, parents can educate themselves about the impact of retinitis pigmentosa on their young child, and take steps to create a safe environment and/or provide their child with strategies for navigating in dimly lit environments. For older children, an orientation and mobility instructor may be requested to orient a child to a new school environment or to learn safe travel techniques.
Balance is also a concern in families of children with Usher types 1 and 3. Riding a bike, skating, jumping rope, or swimming may require extra practice and awareness. Parents have discovered that activities that build core muscles can improve their child's balance. Some children have discovered an affinity for sports like swimming, golf, and horseback riding!
Educational Support Planning
Early diagnosis of Usher can help parents and teachers be aware of signs of visual struggles when they start to appear. Vision loss may impact the way a child learns. For example, a child n an astronomy class may prefer a high-contrast or tactile diagram of the night sky. Visual accommodations can easily be included in a child’s IEP.
Future Clinical Trials
There are treatments nearing or in clinical trial that hold the hope of slowing, stopping, or even reversing the vision loss associated with Usher syndrome. But almost all of these treatments are diagnosis-specific. In other words, it’s not enough to suspect Usher syndrome. You have to know definitively and you have to know the specific genetic cause.
Many families of children with hearing loss ask the question “will my next child have hearing loss, too?” Usher syndrome is an autosomal recessive genetic disorder. Each child born to carrier parents has a 25% chance of having Usher syndrome. A definitive diagnosis of Usher syndrome will assist parents who are planning to expand their family to make an informed decision.
Satisfies the Need to Know
Knowing removes the doubt. There are thousands of adults with Usher syndrome living happy, productive lives. Knowing this gives families a chance to support their child to take control of their own lives, to find positive adult role models with Usher syndrome, and to envision a future that is vibrant and bright.