Eve Orcutt, Author at Hope in Focus

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.

It’s April Fool’s Day, and we’ve got a great post to share with you!

“We can all make our lives much happier if we choose to laugh, live our lives more intentionally and find joy in the little things.”

Jack McCormick

The quote above is from our friend, Jack McCormick’s blog. You may know seen the video, Jack’s Story, at Dinner in the Dark last year, or on Facebook or our website. Jack’s story is one of clinical misdiagnosis – something that happens all too frequently. It’s also about living with a visual impairment, the role his parents played in his life, and getting to a correct diagnosis. (Spoiler alert! Jack has LCA.) If you haven’t seen it yet, take a few minutes to watch!

If you’re raising a blind child, then we also recommend this post from Jack, Let’s Laugh: At Me! There are so many emotions and worries that keep parents up at night, and Jack’s post is a reminder that our kids are not just rare and beautiful, but sometimes just plain goofy, and a little humor and laughter can go a long way!