Emmerdale stars Laura Norton, 39, and Mark Jordan, 58 have shared the news about a rare genetic condition that both of their young children have inherited.
The couple, who are currently engaged, are best known for their roles on ITV shows such as Emmerdale and Heartbeat, and welcomed their second child, a little girl named Ronnie in October 2022.
Yet just four months on since welcoming little Ronnie into the world, the couple have revealed that both their daughter, and her big brother Jesse, two, have now been diagnoses with a rare genetic condition named Usher syndrome which affects their vision and hearing.
The couple said that they first had concerns that something was wrong with Jessie shortly after his birth in 2021, after he failed standard hearing tests.
However didn't find out he has Usher Syndrome until Laura was pregnant with Ronnie, and tests confirmed that both of the little ones carried the same rare gene that causes the condition.
But what exactly is Usher syndrome and how does it affect people?
Usher syndrome is primarily a rare genetic condition that results in partial or total hearing loss and vision loss that worsens over time.
The hearing loss is caused by abnormalities of the inner ear, while the vision difficulties are due to a disease called retinitis pigmentosa, which affects the layer of light-sensitive tissue at the back of the eye.
This causes the light sensing area of the retina to gradually break down, with night vision usually deteriorating first, before blind spots occur at the side of the eyes.
How many types of Usher syndrome are there?
In total, there are three distinct types of Usher syndrome, I, II, and III, which are all distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear.
Most people with type I, are born with severe to profound hearing loss, with their vision worsening throughout the first few years of life.
Children suffering from the disease will also often struggle with balance issues due to abnormalities of a specific part of the inner ear that helps maintain the body's balance and orientation in space.
This means that children with Usher syndrome may be delayed in hitting developmental milestones such as sitting independently and walking, with difficulties when playing sports or riding a bike also common later into childhood.
Type II by contrast is less severe, with children born with hearing loss, however their progressive vision loss doesn’t begin until their teenage and adult years.
The hearing loss associated with this form of Usher syndrome ranges from mild to severe, with the most common difficulty found in identifying high frequency sounds, such a soft speech or the letters d and t.
Unlike type I and III, this form of Usher syndrome doesn’t affect a person’s balance.
The final type of Usher syndrome is Type III, and occurs later in life. Most babies born with this genetic abnormality are usually born with normal hearing, with a steady decline in their ability to hear during late childhood or adolescence, after the development of speech.
By middle age, most sufferers will have profound hearing loss, and will also suffer from vision loss caused by retinitis pigmentosa, again having started in late childhood.
There will also typically be some issues associated with balance.
How rare is Usher syndrome?
Around 4 to 17 people in every 100,000 are affected by the disease, with forms I and II the most common.
Type III represents only about 2 percent of all Usher syndrome cases overall.
What are the symptoms?
The main symptoms of Usher syndrome are:
- Hearing loss or deafness (usually from birth)
- Loss of night vision and side (peripheral) vision
- Difficulty with balance or bumping into things
What causes Usher syndrome?
Usher syndrome is caused by a genetic mutation occurring in at least six specific genes that make up our DNA.
The genes associated with Usher syndrome provide instructions for making proteins involved in normal hearing, balance, and vision.
The condition is also known to follow an autosomal recessive pattern, this means that the parents of a child affected by the condition each carry one copy of the mutated gene, but they do not have any signs and symptoms of the condition.
How is it diagnosed?
A number of tests are used to diagnose Usher syndrome, which include a dilated eye exam (an eye test that uses special eye drops), hearing tests and even a simple blood test to be genetically tested to identify a faulty gene.
Some further specialised eye exams may also be required which include:
- Electroretinography (ERG). A test that lets the eye doctor check how well the retina responds to light.
- Optical coherence tomography (OCT). A test that uses light waves to take a detailed picture of the retina.
- Videonystagmography. A test that checks for eye movements you can’t control, which can be a sign of balance problems.
- Fundus autofluorescence (FAF) imaging. A blue light test to take a photo of the retina.
How is it treated?
Sadly, there is no known cure for Usher syndrome, but the good news is early treatment can help people with Usher syndrome make the most of their hearing and vision.
This means making the most of low vision aids and vision rehabilitation training, such as teaching your Child to read Braille, while taking a Vitamin A supplement could help to slow down the progression of vision loss.
Hearing aids and assistive listening devices can also be used to help make the most of any residual hearing, including the cochlear implant, while other less invasive options such as learning British Sign Language and lip reading could also be adopted to help your child to communicate.
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