Attention LCA Families: Sign up to receive the LCA Family Newsletter!

Hope in Focus (formally Sofia Sees Hope), a nonprofit focused on families living with Leber congenital amaurosis (LCA), will launch a quarterly newsletter in the fall of 2017.

Sofia Sees Hope funds research for diagnosis, treatments and cures for rare retinal disease and provides advocacy and information for the LCA community.

The newsletter will be specifically for LCA patient families to help them connect with each other and with the resources and organizations that can help them. The newsletter will have both a print and a digital version.

“There used to a be a newsletter for LCA families and it was a wonderful resource and a great way to stay informed,” said Sofia Sees Hope co-founder Laura Manfre. “When I attend conferences and hear from families the number one thing other patient families say to me, is they miss the newsletter. I’m happy that Sofia Sees Hope is now in a position to do this.”

September 2017 launch

The newsletter will include LCA research news; contact information for research and trials, family stories, fundraisers, an event calendar, and a section dedicated to education on the patient and family role in advancing research.

Sofia Sees Hope has assembled a team of former journalists to spearhead the project, ensuring that the information it contains will be factual and trustworthy for patient families.

To sign up for the newsletter — and other information from Sofia Sees Hope — please visit this page: https://hopeinfocus.org/resources/newsletter/

You can also send article suggestions to Sofia Sees Hope by visiting https://hopeinfocus.org/contact/.

Sign up for our Newsletter

Love Golf? Hate Golf? Both Can Help Cure IRDs and LCA!

Birdies for Charity is a great program that we joined this year to help us raise awareness about Leber congenital amaurosis (LCA) and to help raise funds to cure LCA and other rare inherited retinal disease (IRD). For golfers, it’s a chance to be part of the Travelers Tournament, a decades-long tradition that brings the PGA tour’s top players to Connecticut. For non-golfers, it’s an easy, fun way to help Hope in Focus (formally Sofia Sees Hope) by m aking a pledge as low as two cents per birdie.

It’s very simple and works like a walk-a-thon. People pledge some amount per birdie, just like they might pledge some amount per mile walked in a disease walk-a-thon. In this case, they usually pledge anywhere from two cents to one dollar per birdie, because professional golfers are likely to make about 1800 birdies during the tournament.

This part is for the non-golfers! A birdie means they hit “one under par” for a given golf hole. Par is the number of strokes (times you hit a golf ball) a person is likely to need to get the ball in the hole. A professional is expected to do much, much better than the average golfer, so they would normally be under par most of the time, requiring fewer strokes than normal people would. So they make a lot of birdies!

For the real golfers and fans, we have a limited number of day passes available for people who pledge. First come, first served, so click here to go to our dedicated Birdies for Charity page now!

To Test or Not To Test: 5 Reasons We Think You Can And Should Get a Genetic Diagnosis For Your IRD

Hey LCA or IRD family, does any of this sound familiar?

You or your child has received a clinical diagnosis of LCA (leber congenital amaurosis), RP (retinitis pigmentosa), cone-rod dystrophy, or another crazily-named inherited retinal disease AND…

Your doctor wants to help, but isn’t sure where to direct you or what to do next.
Your doctor doesn’t even think you should bother. (There aren’t any cures or treatments available so why waste your time and energy?)
You’ve been genetically tested at least once (and maybe five times before). No one gets back to you and if they do, the results are negative.
Your insurance company doesn’t want to cover the cost.
OMG, you’re frustrated! No one seems to be able to give you clear direction and you’re not getting any answers.

On one hand, we wish we could say this experience is rare and unique! But the truth is that you’re in good company. There is still so much confusion around getting to a genetic diagnosis for your inherited retinal disease. The good news is, we are not confused on one item: YOU NEED TO GET TESTED! And here are five reasons why.

Misdiagnosis is still more common than we wish. Until you have a genetic diagnosis, you just can’t be sure you really have LCA, or RP, or another IRD.
It’s not just about blindness. This is the somewhat scary part that you might not be aware of, but several of the genetic defects that come with these rare IRDs, also impact other organs. For example, some LCA genes are reno-retinal genes, meaning that they may also impact kidney function. We’re not sharing this information to scare you into getting tested, but to highlight just how important it is to make sure you have a clear, genetic diagnosis so you can be prepared and provide the best care possible for any other possible conditions.

Treatments and cures are coming! That tired story of don’t bother because there’s nothing you can do is bogus. There is already a proven treatment for one form of LCA (RPE65) and there will be others. If you don’t have a diagnosis, you can’t participate in clinical trials or take advantage of treatments as they become available. That is a real bummer.

We know where you can get tested. We are so close to cures and treatments today that there are FREE programs like Spark Therapeutics’ ID Your IRD and programs through the Foundation FIghting blindness that you may be able to take advantage of. Check out our website resources for information, or contact us and let us help!
Knowledge is power. ‘Nuff said.