Patrick and Mirielle are smart, healthy, funny, fun-loving kids with a warm and loving family. Patrick is a Cub Scout, and like most 7 year old boys, likes cars, and he dotes on his little sister. Mirielle, age 5, likes to tell jokes and enjoys playing the violin. Life would seem almost perfect for them, except one thing; they have been blinded by Leber Congenital Amaurosis (LCA), an inherited retinal degenerative disease characterized by severe loss of vision at birth. It is caused by a defect in one of 19 different genes which account for approximately 75 percent of all cases, BUT THERE IS A GENE-SPECIFIC CURE. All that needs to be done is to raise the funds needed to begin research on their specific defective gene (NPHP5) and bring them a single injection away from seeing their parents again!
Your donation toward this research can give these children the opportunity to see their parents! Please donate your support and also help us spread the word by reposting this story and tweeting about it as much as you can. Below is Patrick’s and Mirielle’s story, written by their parents.
What’s Wrong with My Son?
I will always remember coming home from work and walking through the door to see Lori on the couch with our first child Patrick, then three months old, on her lap. The house was quiet and Lori’s face was red and flush. I sit down and ask what’s wrong? Lori’s eyes welled up and she says: “Lee, why doesn’t he ever look at me?...He keeps looking all around but never stares at me, why is he always doing that?” My heart sunk. We saw the local Pediatrician first thing the next day.
I was at work when Lori called me - Her voice filled with tears and shaking. I ask: “what did she say?” Lori said the Pediatrician looked closely into Patrick’s eyes with a flashlight. “Can he see?” Lori asked her. The Pediatrician replied, “I don’t know. I don’t know.”
I took the next day off from work and, through the help of some close friends, we were able to get Patrick an appointment with one of the top Pediatric Ophthalmologists in Chicago. Upon the doctor’s completion of her exam, she said: “Yes, your concern about his vision is accurate. Patrick’s retina is discolored, grayish and mottled.” We asked: “Can he see? The Ophthalmologist said: “He probably has minimal vision…hard to say until we perform further testing.”
“Can glasses help? ...“Surgery?” … “Transplant?” … “No, No, No”
“Anything?” again: “No, the retina is too complicated and sensitive for any of those procedures.” After asking: “What can we do for our son?” All we heard was “Come back when he is five months old for another test.” That was it. No more info, no more conversation.
We were left standing there. No idea what to do next or where to go…twisting in the wind with our three month old child, who is now declared blind, with no idea what the future holds for him.
We went back when Patrick turned five months, on Lori’s birthday no less, and had an ERG (Electroretinography) on his eyes. They put these contact lenses in both eyes which had several wires sticking out of them and were connected to this horrid looking machine. Patrick couldn’t blink, these lights were flashed in his eyes…imagine holding down your five month-old in this condition for what felt like forever.
Patrick’s Diagnosis, With No Cure
The report came back and the doctor told Lori and me that the test verified his retinas had a flat-line response to light… No Vision. They said Patrick had LCA (Leber Congenital Amaurosis) and to come back in a year so we can monitor the eyes’ health…Good-bye…No cure offered. No help mentioned…and so began the start of our journey with Patrick.
Patrick’s sister was born 22 months after Patrick. We knew, due to the genetic condition of LCA, that we had a one in four chance that Mirielle would be born with the same condition as Patrick. We still felt it would be great for Patrick to have a sibling and, if she was half as loveable and joyful as Patrick, we were confident that having a second child with LCA would still be a good decision.
After Mirielle was born, we noticed similar symptoms as Patrick had at birth. The drifting eyes and lack of pinpoint focus and tracking were all consistent with LCA. We verified her condition when she was five months old with a more compassionate ophthalmologist than Patrick’s.
We moved forward, seeking a cure. Mirielle has better vision than Patrick, who has just light perception. Mirielle has good central vision so she can read and see objects in front of her. However, her field of vision is very limited, about the size of a pencil eraser. Over time her field of vision will continue to regress and get smaller and smaller.
We hope our story has inspired you enough to support our children’s research, so they can see us clearly for the first time. Below is more information about LCA and the remarkable success to date.
What is LCA?
Leber Congenital Amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. LCA is a very rare condition that affects only about 3,000 to 3,700 Americans. It is caused by a defect in one of 19 different genes. These genes account for approximately 75 percent of all cases of LCA.
Dr. Bennett and a team of researchers at the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Medicine have developed a way to deliver a healthy copy of the defective gene to the eye and, essentially, reverse the effects of the disease. They have found the best results are achieved in the youngest patients whose defective retinal cells have not had time to die off.
Patrick’s and Mirielle’s defective gene is NPHP5. We are raising funds to support research on their specific gene. After a single injection of the healthy gene, Patrick and Mirielle can discover a new world!
The recent success of 12 year old Corey Haas holds out hope Patrick and Mirielle.. Corey was treated with gene therapy and within just one month of treatment, he and his parents noticed major improvements in his vision. His eyes were responding to light and he was seeing colors more vividly. At his three-month review at CHOP, Corey was able to perfectly complete an obstacle course that, before treatment, had trouble even attempting.
Today, after a single injection of a gene-therapy product in one eye, he rides his bike around the neighborhood, needs no assistance in the classroom, navigates the obstacle course quickly and has even played his first game of softball.
We want this for Patrick and Mirielle, and with your help it is possible. Please share this link and your support for Patrick and Mirielle.
Team on This Campaign: