Usher Syndrome is a rare genetic disorder causing individuals to go deaf and blind, and in some cases to lose vestibular control. The severity of the vision, hearing, or balance loss depends on the type of Usher Syndrome one has. With an estimated 50,000 people with Usher Syndrome in the US alone, it is considered the leading cause of combined deaf/blind disorders worldwide. It is passed to offspring by both parents, who each contain a copy of the mutated gene. Those who inherit only one copy of the mutated gene are considered to be carriers and do not express symptoms of the disorder. However, carriers can pass the mutated gene onto their children as well.
Usher Syndrome is characterized by 3 major symptoms. . . .
Vision loss in Usher Syndrome is due to Retinitis Pigmentosa (RP), a degenerative condition of the retina. The retina is a delicate tissue in the back of the eye composed of light sensing photoreceptor cells called rods and cones. Rods and cones are responsible for converting light into electrical impulses that transfer messages to the brain but deteriorate over time in those with Usher Syndrome.
Hearing loss due to Usher Syndrome is adversely affected by the same mechanism that causes cells to die in the retina. These nerve cells are found in the cochlea, a sound transmitting structure of the inner ear.
Balance relies heavily on the two vital senses of vision and hearing. In some cases of Usher Syndrome, the vestibular function is completely absent. As such, vestibular issues are frequently found in those with Usher Syndrome.
Here are some RESOURCES . . . .
VISION for a CURE – The mission of VISION for a CURE is to raise awareness and compassion about Usher Syndrome, as well as provide funding to those that are dedicated to research to find a cure. There are no human embryos being used in their research. DONATE HERE
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The Megan Foundation – Supporting deaf/blind students by allocating funds for educational scholarships, developing youth programs to build independent living skills and sponsoring travel expeditions for young adults with Usher Syndrome to explore the world before their remaining hearing and vision slips away.
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Usher Syndrome Coalition – Their mission is to raise awareness and accelerate research for the most common cause of combined deafness and blindness. The Coalition also provides information and support to individuals and families affected by Usher Syndrome.
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Usher Syndrome – What is Usher Syndrome? Details from the National Institute on Deafness and Other communication Disorders (NIDCD)
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Fellow Usher Bloggers
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Below is a letter I wrote to my friends and family on facebook back in August of 2012. I wanted to share them what was going on with me so that I could have all the support needed – prayers, encouragement, etc. Everyone has been amazing and I just love all of them!
My #1 Fear. Has Come True. I Am Going Blind. . . . .
Yes, you read that correctly. It’s been about a month since I was told by a retina specialist that he was 98% sure that I have Usher Syndrome – www.nidcd.nih.gov/health/hearing/pages/usher.aspx –
Usher Syndrome is a genetic condition that is a combination of being deaf/hard-of-hearing and having an eye disease called Retinitis Pigmentosa. I knew I had bad night-vision and had a loss of peripheral but I had NO idea that this was apart of something that would take away my sight completely. Every case is different, as in, I may stay the same for many many years before I only see a face. Of course, I am praying really, really, really, hard that God will heal my eyes completely. Oh to see clear again would be so amazing! I can only pray and hope 🙂
How am I taking all this in you ask?
Well- It hasn’t been easy. The downside: It is my #1 fear to go completely blind. I was born deaf/hard-of-hearing and have used my eyes to “hear” all my life. I lipread, I read signs, I read people’s body language and now it will all slowly be taken away from me. It’s a bit terrifying to be honest! As you know, I love photography. I love to capture beauty in the eyes of a camera. I am thankful that I can still see enough so I can continue to do this…and who knows how long! 🙂 But the thought that I may not be able to do this someday makes my heart ache. I feel my dream camera (canon mark 5d II – oh yah!) is now just a dream and will never become a reality. Will I see my future grandchildren? Maybe – Possibly! There are so many what ifs! It’s the unknown. The upside: Eventually we will only have to pay for one car! That will save money 🙂 I am already planning my walk routes for when I have bad eye days and cant drive or when I cant drive altogether. I am actually looking forward to those adventures. It narrows down to where we can buy a home (close to walking distant to Target I requested!) I am so blessed to have Christ as He is my ROCK. I have to remind myself that this is just our temporary home.
I am thankful that I am healthy, I am thankful for amazing friends and family. I especially want to thank all of my friends who have helped guide me at night when I needed to walk to places (especially those Hume Lake days! – man that was rough, now I know why). Believe it or not….there is GOOD to come from this.
I wish I could just pretend this is not happening, but I wanted to share this with all of you because I need the support, I need your PRAYERS, encouragements, reminders that everything will be OK. 🙂
Below is a link that I have found that will really help you understand Usher Syndrome and what we go through.
Please pray for healing of my eyes, for every day strength, and to continue to Trust in the Lord.
P.S. Please do not be afraid to ask me questions about anything.
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Click HERE to read the story of how my DREAM CAMERA came true by the giving hearts of my family and friends…and people I have never even met!