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Searching for People with Usher Syndrome Type 1F

September 6th, 2013 by | Tags: , , , , , | 3 Comments »

My family and I are looking for people who have Usher Syndrome Type 1F and families who have a family member with Usher Syndrome Type 1F to help us with a very important initiative. Type 1F is a specific type of Usher Syndrome genetic mutation that exists only in Ashkenazi Jews. If you or your family member has Usher Syndrome Type 1F, we would love to get in touch with you about pushing for funding to include Type 1F in the next round of clinical trials for gene replacement therapy and other treatments for retinitis pigmentosa.

If you have Usher Syndrome, but you do not know your genetic mutation, please do contact me for more information about genetic testing. If you are an Ashkenazi Jew, were born profoundly deaf and have retinitis pigmentosa, the chances of having the Type 1F mutation is very high.

Professionals, if you know someone with Usher Syndrome Type 1F or who might have it, please share my contact info and have the recipient contact me.

Contact info: cochlear@rachelchaikof.com

Note: My family and I are very well aware of the Coalition for Usher Syndrome Research.

3 Comments

Bridgette Carey

September 7, 2013 at 4:28 am

My daughter is 19 and has usher syndrome. Not sure what type yet. She was not born profoundly deaf and wasnt diagnosed with RP until last year. You can get in touch with me at this email address.

Bev Teeter

April 18, 2014 at 3:29 pm

I don’t know if you are still looking for people since you posted this in September and it is now April of 2014.
My daughter will soon be 18 and has been diagnosed with Usher Syndrome Type 1F. She received her first CI at 18 months of age and the second at age 14years. She was clinically diagnosed with Usher Syndrome 1 at age 5 and at age 16 the gene mutation was finally discovered. More work to be done, but her ophthalmologist (who is also a researcher) gave us news that a treatment option is closer than ever!
She is not an Ashkenazi Jew. We are always interested in learning more or helping support research or treatment discoveries.

Rachel

April 18, 2014 at 8:25 pm

Hi Bev,

Thank you so much for leaving your comment and letting us know about your daughter! I just sent you an e-mail.