SAVE BLIND AND DEAF CHILDREN LIKE CHIP

We are doing a GoFundMe for our baby son, Chip, who’s been diagnosed with Norrie Disease. 


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 profound cognitive impairment

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, something we can treat and have hope that it will get better. I screamed into the abyss, and let the depression set in. I had never felt this kind of pain before - pain that cuts into every fiber of my being 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 eventually 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 raising $500,000 to fund 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. Any donations will be used towards the foundation to SAVE CHIP:

 

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 use the funds raised to create a new gene therapy treatment at Akouos. An initial Norrie mouse model has shown that giving the ear the AAVAnc virus coding the correct gene helps and even prevents hearing loss. Without this funding, the company has said that they will DISCONTINUE the study due to lack of commercial interest. We will use the funds to ensure that the study continues and if successful, Chip would be able to maintain his natural hearing forever. The cost is $300k. 
 
 

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: 
     - Establish iPS (induced pluripotent stem cell) cell line at New York Stem Cell for generation (3 months)
     - Derive neurons and astrocytes from iPS (1 month)
     - Begin to characterize differences in neuronal / synaptic biology between Norrie Disease neurons/astrocytes and wildtype neuron / astrocytes (1 year)
     - Biochemical analysis: western blot, qPCR, IF
     - Physiological analysis: MEA, electrophysiology
They will need approximately $200k to do this including cost of experiments as well personnel. This will ensure that we save Chip's brain and allow him to have a normal life as a blind child. 
 

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.



To find out more, please visit our foundation website at www.treatnorriedisease.org



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Donation are tax deductible under section 501(c)(3) of US law.


Charitable donations processed for this campaign are received and distributed through Foundation to Treat Norrie Disease, a fully registered Tax-Exempt charity 501(c)3, EIN #: 85-1677996.