Our Story — Foundation to Treat Norrie Disease

SAVE BLIND AND DEAF CHILDREN LIKE CHIP – OUR STORY

Chip was born on Valentine's Day. He came into the world howling at the top of his lungs and with his eyes wide open, as if he couldn’t wait one more second to see the world. The moment I saw him - I knew the story would be one of love.

We basked in the glow of a healthy newborn baby, our first. He was perfect in every way, I thought. I imagined a life overflowing with laughter, cuddles, milestones, and achievement. I imagined the endless possibilities in store as he would learn about the world – perhaps an astronaut, perhaps a teacher, or a mystery novelist. Whatever it may be, he would eventually carve out his own path and make his mark.

When he was just six days old, we took him to see an ophthalmologist at the suggestion of our pediatrician - something isn't quite right with his eyes, he said. During the appointment, the doctor took one look at his eyes and said:

"It's probably Norrie Disease - but we can't confirm until you do a genetic test".

Norrie Disease? What is it? It sounds bad. A quick Google search in the waiting room took my breath away and upended the world as I knew it:

Blindness from birth with bilateral retinal detachment

Eventual hearing loss as early as five years old

Potential Autism and Non-verbal

Some display psychotic symptoms

Possible learning difficulties / mental retardation

Some have seizures

Peripheral vascular disease like leg ulcers and erectile dysfunction

The list went on and on.

Am I dreaming? My perfect baby can't see when he was so eager to open his eyes? He won't be able to hear? How could he have a disease so rare that it occurs in less than 1 in 1 million babies born?

The shock alone sent me swirling into the depths of despair. I looked at my perfect child and couldn’t help but imagine his life filled with insurmountable challenges, frustrations, rejections, and prejudices. I spent the next few months denying that he had this disease, bargaining with God and anyone who would listen for something lesser: could I exchange Norrie Disease for a heart defect, or cancer, perhaps. I screamed into the abyss, and let the depression set in. I had never felt this kind of pain before - pain that cuts into my bones like a thousand knives and pain that cannot be assuaged. I knew conceptually that this grief must end in acceptance. But accepting a fate like this was simply unacceptable.

As the months went by, we confirmed his Norrie Disease diagnosis through multiple genetic tests. In this time, I watched Chip grow—and flourish. I watched him learn to roll over and sit up without the aid of eyesight. I watched as he boldly explored his surroundings with the touch of his hands. I watched him belly laugh and take in his first solid foods with rabid desire and eagerness. I watched his willfulness, his sense of urgency, and his joy at discovering his toes. We celebrated every little victory like it was a triumph; every baby step a giant leap of mankind.

Chip is an extraordinary boy and like any other child, he too, deserves an extraordinary life.

But that won’t be easy. From the start, doctors across Boston told us there was nothing to be done for his eyes, we should resign ourselves to the fact that he will never see the light of day.

But we cannot resign.

So we did our own research and found Dr. Antonio Capone out of Detroit, Michigan, the world’s leading surgeon for Norrie Disease. Four cross-country trips during the height of the COVID pandemic and multiple eye surgeries later - Chip can perceive light in his left eye.

The doctors then told us that there is currently no treatment for Norrie Disease. Chip is blind, will eventually go deaf and develop vascular problems like ED, and may be developmentally delayed.

But we cannot accept this fate and simply wait for our baby to go deaf in addition to being blind.

So, again, we have decided to take matters into our own hands. We’ve started a 501(c)3 non-profit organization called "Foundation to Treat Norrie Disease" with the mission to fund research, expand our understanding, and find a treatment for this devastating disease.

Funding is a major issue for rare diseases like Norrie, which only affects an estimated 500 people worldwide. It simply isn’t profitable for private companies to invest resources in developing a therapy for such a small patient population.

To accomplish this goal, we are doing a fundraiser to create specific research projects in partnership with some of the world’s leading academics and organizations.

The money will be used to fund specific treatment research below:

Hearing: studies have shown that children living with Norrie Disease are not emotionally hindered by blindness. They instead go through Major Depression once they experience hearing loss, as their primary method of connecting with the world around them slowly fades. We will work with experts in the field to create new treatments including gene therapy for NDP hearing loss. We will use the funds to ensure the research studies advance and, if successful, will help Chip maintain his natural hearing forever.

Brain: Norrie Disease affects the brain in different ways. We are working with Drs. Jeff Rothstein and Jeremy Nathans at Johns Hopkins. They are looking at the effects of Norrie Disease on brain synaptic chemistry and blood brain barrier. The funding will be used to:

This experience we did not choose, but out of it we will have a life extraordinary beyond any measure. We share this journey with each of you in hopes to raise awareness and make a difference.

This is our story: born out of hope, tested by fire, and ending in love.

Our Extraordinary Life

Foundation to Treat Norrie Disease