I Just Got the Diagnosis, now what?

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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 email to 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.

FREQUENTLY ASKED QUESTIONS

What are the retinal diseases associated with CRB1 gene mutation?

  • Leber Congenital Amaurosis – this has the earliest age of onset and in most cases the most severe vision loss from an early age.
  • Retinitis Pigmentosa – Usually not diagnosed until child is older but can be diagnosed at a younger age, progression of vision loss tends to be much slower. Mostly affects the peripheral vision and has a tendency for night blindness
  • Cone Rod Dystrophy – Degenerative retinal disease like the other two, leads to vision loss.

Are there other health issues I should be worried about?
For the most part, the answer is no. But there are a few things you should watch out for:

Eye rubbing or oculo-digital reflex. This is a tendency for very young children to use their fists to press on their eyes which can lead to a sunken appearance of the eyes after a period of time. The best defense for this is to simply keep watch for this behavior and distract your child to keep them from doing it.

Roving eye or nystagmus. This condition causes involuntary eye movement making it hard to focus.

Sensitivity to bright light. If you notice your child squinting or covering their eyes in bright light or sunny areas, may want to consider having them wear sunglasses when outside in the sun or transition lenses if they wear glasses. The proper sunglasses can also help protect the retina.

Night Blindness – difficulty seeing in dim or low lit areas. Even if your child’s vision is fairly good they may experience more difficulty in lower lit areas, especially when coming from a well lit or sunny area.

Vision Loss – these diseases are progressive so it is important to continue to have your child’s vision checked on a regular basis to monitor their vision. It may be necessary to update lenses if they are prescribed glasses to keep their corrected vision the best it can be. Once your child is old enough, it is a good idea to test their field of vision as well as acuity.

Is there any treatment or cure available?
There currently is no cure for CRB1 but with our continued efforts we are hopeful that a cure will be found very soon. There is much progress going on in the research world every day. For info on specific projects the CRBF is funding, visit our Grant Awards page. Many of our families are working hard to raise money to help keep this research moving forward. Check out some of the great fundraising events organized by our families on our Fundraising Events page.

What kind of visual aids are available for my child and where do I get them?
There are so many great vision loss aids out there for all age levels, so much more then even just a few years ago. Please visit our “Tools of the Blind/VI” page of our website to see what is available for you and your child.

What kind of a future can I expect for my child?
With so many visual aids available for our children there is no reason not to think that our children can grow up with the same opportunities as every other child and exceed in anything that they wish to do. Please visit these links to see some of the accomplishments of the amazing children in our group. Not only are our children amazing but we have also included a few links to some other wonderful stories that show just what your child can be capable of!!

LINKS TO STORIES OF ACCOMPLISHED BLIND 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’Connorhttp://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!!!