CRB1 Diagnosis

I Just Got the Diagnosis, now what?

The First Steps

Diagnosis/Retina Specialist/Genetic Testing

If you have received a diagnosis then more than likely you have already been to see a retinal specialist. If not it is imperative that you schedule a visit for your child with one as soon as possible. You should also request genetic testing be done if not done already to confirm the gene mutation. This is important for many reasons. Most importantly, even though there is currently no treatment or cure for CRB1 version of retinal disease, there is a successful treatment being done right now for another gene mutation, RPE65. With continued research it is very likely that other genes will follow including our CRB1. Unless you have confirmation of your child’s specific gene mutation you will not be able to participate in any clinical trials that become available. It will make it much easier as well to follow the progress being made every day in connection to each of the specific genes. For more information regarding genetic testing, please send an curingretinalblindness@gmail.com.

The Next Steps

Pre-School/School Age Education Plans

No matter where your child’s vision loss progression is, it is important to start them on some kind of a program: either early intervention for birth to 3 years, pre-school services for ages 3-5, or elementary/secondary special needs education programs for ages 5-18. Please check out the links below or visit our page Resources for Raising Blind/Visually Impaired Children to help you find programs in your area.

School programs include IEP (Individualized Education Plan) or a 504 plan. Once a program is in place for your child you will be able to request any special tools or education they will need. This could include Braille and/or mobility training along with visual aids to help out in the class room from something simple like a slant desk to CCTV screens or a braille writer.

Links to Stories of Accomplished Bling Adults and Young Adults

Erik Weihenmayer: Despite losing his vision at the age of 13, Erik Weihenmayer has become one of the most accomplished adventurers in the world. Re-defining what it means to be blind, Erik has opened the minds of people around the world. He is the only blind person who has reached the summit of Mount Everest and the tallest peak on each continent. Today, Erik continues to inspire others with motivational talks, charity work, and wild adventures such as whitewater kayaking. http://www.touchthetop.com/

Captain Scott Smiley: Scotty Smiley, a Ranger and combat-diver qualified infantryman, was the Army’s first active-duty, blind officer. On April 6, 2005, he lost use of both eyes when a suicide car bomber blew himself up thirty meters in front of Scotty’s Stryker vehicle. Since that day, Scotty has surfed in Hawaii, skied in Vail, skydived, climbed Mount Rainier, completed several triathlons, and graduated from Duke University’s Fuqua School of Business with his MBA. The Army Times named Scotty its Soldier of the Year in 2007 and in 2008 he won an ESPY as the Best Outdoor Athlete. Scotty, a recipient of the Bronze Star and Purple Heart, recently taught the core course in leadership at West Point. He then commanded the Warrior Transition Unit at West Point’s Keller Army Medical Center caring for soldiers across the New York area. Captain Smiley was recently named a recipient of the Army’s prestigious MacArthur Leadership Award and currently holds an honorary PhD from Mount Saint Mary College in Newburgh, NY. He is the author of the newly released book Hope Unseen. He has appeared on CBS, Fox News, CNN and several radio stations in NYC. After Scotty finished the Captain Career Course in Ft. Benning, GA, he accepted a post in the ROTC Program at Gonzaga University. http://www.hopeunseen.com/.

Scott MacIntyre: As the first blind finalist on American Idol, MacIntyre was called “an inspiration to the entire world through your commitment, through your talent” by former judge Paula Abdul. Visually impaired since birth, he started playing piano by ear at age three, began classical lessons at six, and subsequently learned to play organ, guitar, bass and drums. When the family moved to Toronto for several years, he studied music at the Royal Conservatory of Music before relocating to Arizona, where, at fourteen, the home-schooled MacIntyre was admitted into Arizona State University’s Barrett Honors College and Herberger College of Fine Arts. In 2005, he received the coveted Marshall and UK Fulbright scholarships and was ranked by USA Today as one of the top twenty undergraduate seniors in the nation. He then graduated ASU Summa Cum Laude at nineteen, going on to receive a masters degree overseas in England at Royal Holloway, University of London and the Royal College of Music. During his time overseas, MacIntyre was invited back to the US to be received in the Whitehouse by First Lady, Laura Bush as one of three national RFB&D scholarship winners. He was accepted to both Oxford and Cambridge Universities for further graduate study in the UK. http://scottmacintyre.com/.

Isaac Lidsky blind attorney and Supreme Court law clerk for Sandra Day O’Connor http://www.cnn.com/2008/US/06/20/blind.law.clerk/.

Tom Wlodkowski, Blind Comcast Executive http://articles.philly.com/2013-08-29/business/41542138_1_guide-disabilities-act-comcast-corp.

Patrick Leahy works on Capitol Hill, is a bodybuilder, and is blind. See his story that recently aired on the TODAY show http://www.today.com/klgandhoda/inspiring-blind-bodybuilder-defies-odds-8C11553827.

The Best Advocate for Your Child

Remember, the best advocate for your child is you!!! Don’t be afraid to question doctors, specialists, teachers, school staff about what is available for your child. In many cases the answers will not be available right away. It may take effort on your part to educate yourself on what is available and how to get it. But our group is here and ready to help in any way we can. Please check in with us and benefit from our knowledge. If you are struggling with something there is a good chance that one of our families has already been there and done that and will be happy to share their efforts with you!!

Please visit the other pages in our website, check out our facebook page, and join our mailing list. Join our journey as we move towards a cure for our children!!!

For more useful information or to get in touch use the links below.

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