ABOUT USHER SYNDROME
What is Usher Syndrome?
It is an inherited autosomal recessive disorder transmitted from parents to children. It only manifests in 25% of the cases when both parents are carriers of the mutation.
There are 3 types of Usher, divided by severity:
Type 1 is the most severe form of the three, it profoundly affects hearing and balance since birth, with sight being affected during late childhood. Types 1 and 3 cause big balance problems due to vestibular dysfunction.
Type 2 has a slower progression, and people who suffer from it lose their sense of hearing and their sight later in life.
Usher Syndrome is the most frequent cause of deaf-blindness in children. It accounts for between 3 and 6% of all child deafness. 50% of deaf-blind people in first-world countries suffer from this syndrome. Its estimated prevalence is around 6-17/100,000.
Usher Syndrome is a rare disease first described in 1958.
Usher Syndrome type 1B: It is characterized by affecting three main senses: hearing, sight and balance.
- Congenital bilateral profound deafness: children are born with profound deafness. Cochlear implants are a solution for these children to have access to hearing and verbal communication
- Rapid vision loss: the speed of deterioration of the retina in Type 1 cases will start showing before the child reaches puberty. It causes nocturnal blindness during the first stages of the disease (around the age of 5) followed by the loss of daytime peripheral vision due to Retinitis Pigmentosa (RP).
- Abnormalities of the vestibular system: children affected by Type 1 (and 50% of Type 3) suffer from absence of balance because the semicircular canals in the inner ear have been affected. This leads to a delay in the beginning of the sitting position, the beginning of walking and in all the children’s physical activities (jumping, running, playing…), and affects mobility for the rest of their lives. The lack of balance can be compensated by different inputs: vision and proprioception (contact of the body with surfaces). As visual acuity decreases due to the progression of Retinitis Pigmentosa, balance problems increase.
SAVE SIGHT NOW EUROPE, AN ORGANIZATION
Committed to Cure Childhood Blindness
Thousands of children around the world are born with hearing and balance problems due to Usher Syndrome Type 1B. They will also be losing their sight during their childhood years due to the degeneration of the retina caused by Retinitis Pigmentosa (RP).
Save Sight Now, an organization created in the United States has partnered with the Foundation Fighting Blindness to help promote and finance medical research focused on finding treatment to save these children’s sight.
Save Sight Now Europe was born in partnership with Save Sight Now to fulfill the need to support and enhance scientific research. Families from both sides of the Atlantic are working together tirelessly to find a treatment to cure Usher 1B Syndrome as soon as possible.
We have identified flagship teams of investigators who are working on therapeutic strategies that can potentially slow down, stop, or reverse degeneration of the retina caused by the Usher Syndrome.
But we also need your help. Rare diseases such as Usher Syndrome rarely get any attention or funding, that is why the financial burden of the research efforts lies with patient organizations like Save Sight Now Europe.
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Bruna, Our Driving Force
Bruna was born in Geneva (Switzerland) in October 2020. During the pregnancy we did the most complete tests doctors suggested, all results were positive, but despite everything, there are times that life prevails. Bruna was diagnosed with Usher syndrome type 1B when she was only 9 months old. In her first birthday she already received two cochlear implants and started speech therapy and physiotherapy sessions to give her the maximum available support.
Actually, all of our efforts are oriented on finding a cure for the Retinitis Pigmentosa. We create Save Sight Now Europe. Our daughter Bruna is our driving engine to work each and every day. We will not give up until we find the cure.