Fighting Blindness with Hope Backed by Science

Join the Retina Foundation to fight blindness with hope backed by science. Your donations help us accelerate life-changing research for those facing retinal degeneration diseases that cause blindness. There are currently no cures or even treatments for most of these diseases, so we need your help! 

Who are you helping? Sweet Jack. His mom shares his story below. 

When Jack was born, to our surprise, he was diagnosed with hearing loss. It was recommended that we do genetic testing to determine the cause. We found that Jack has a very rare form of Usher’s Syndrome – hearing loss AND vision loss.

The genetic counselor that called with the news told me that some kids with this condition will be deaf and blind by age 10. There was nothing that could be done, but they could call me in a few years if they learn more. 

This was the first time we heard that vision was connected to his condition, and I was distraught. Jack’s pediatrician and eye doctor recommended going to the Retina Foundation to seek more information and learn about clinical trials.

When I told Dr. Mark Pennesi about Jack’s condition, he knew what I was talking about. In fact, he was a co-author on a scientific paper about his gene. He had studied patients with this mutation! In two years of searching, no other doctor had even heard of it.

Jack is one of only about 25 recorded patients with this genetic mutation. But we found the doctor that had actually studied it. Jack underwent testing at the Retina Foundation to help Dr. Pennesi get a better grasp of his current condition. We will return each year to check the progression, at no cost to us.  

I now know that Jack likely won’t begin losing vision until he is a teenager or young adult. That gives us time and a plan. And we have hope, because the research Dr. Pennesi is doing could help stop Jack’s vision loss or even bring back any vision he loses.

I live in Dallas - just 15 minutes away from the Retina Foundation. The next closest specialist would be in Oregon or Florida.

It’s unbearable to think about Jack losing his vision. We know that a cochlear implant would work with his ear structure if he ever needed more than his hearing aids. So, I know he will always be able to hear, no matter the impact of Usher’s Syndrome. And I have hope for his vision, but no guarantees. I want Jack to be able to play ball with his brother and sister. I want him to experience his life as fully as possible.

Jack loves the moon and stars. He loves reading books about space and pretending to drive a rocket ship. He looks for the moon at night and says, “Look mom - the moon!” I know if Jack starts to lose his vision, the moon could go for him. Please support the important work of the Retina Foundation, so Jack never has to give up the moon.