About Gabriel
Whether you know us personally or happened upon this website, welcome! It is our hope to bring awareness of LCA to our community, and to connect with others affected by this disease.
My name is Rebecca Wahlberg, and I have been married to my husband, Bert, for 8 years. Before we had Gabriel, neither of us had ever heard of Leber's Congenital Amaurosis (LCA). There is no history of blindness in our families. Bert, our eldest son Oliver, and I all have perfect vision. As we learned a few months after Gabriel's birth, none of that mattered. LCA was something beyond our control. It is something hidden in the complexity of our genetic code, a mutation of a specific gene that both Bert and I carry. Because of this rogue gene, our children have a 1 in 4 chance of being born blind.
We welcomed Gabriel into our family on October 29, 2010, He passed ALL of his newborn exams, and continued to pass the monthly infant wellness exams. We noticed that Gabriel's eyes didn't focus, and that he never "looked" at anyone or anything. I kept thinking that his eyes would develop eventually. Afterall, babies are born with very poor eyesight. I wasn't expecting or looking for a problem. Any concerns that were brought up concerning Gabriel's vision were put to rest by the fact that the pediatrician NEVER noticed a problem while examining his eyes. At one point we were even told that Gabriel had great hand/eye coordination!
I often wonder how I could not know that my own child was blind. I noticed things about Gabriel that seemed unique and different, but I attributed this to him being unique and different. He was nothing like Oliver at the same age. Gabriel was very tactile, constantly feeling, tapping, and exploring his environment by touch. His hands were always in motion. He had great fine motor skills, and was able to manipulate toys at an age when most babies are not capable of doing so. I come from a family of musicians, so I figured that he had inherited the finger dexterity! At the same time, Gabriel didn't reach certain developmental milestones. He showed no desire to roll over, crawl, or sit up. He was content lying flat on the floor kicking, and playing with toys within arms and legs length. He was very sensitive to noise, and taking him to restaurants, the grocery store, or other noisy environments was challenging. Something wasn't right.
My name is Rebecca Wahlberg, and I have been married to my husband, Bert, for 8 years. Before we had Gabriel, neither of us had ever heard of Leber's Congenital Amaurosis (LCA). There is no history of blindness in our families. Bert, our eldest son Oliver, and I all have perfect vision. As we learned a few months after Gabriel's birth, none of that mattered. LCA was something beyond our control. It is something hidden in the complexity of our genetic code, a mutation of a specific gene that both Bert and I carry. Because of this rogue gene, our children have a 1 in 4 chance of being born blind.
We welcomed Gabriel into our family on October 29, 2010, He passed ALL of his newborn exams, and continued to pass the monthly infant wellness exams. We noticed that Gabriel's eyes didn't focus, and that he never "looked" at anyone or anything. I kept thinking that his eyes would develop eventually. Afterall, babies are born with very poor eyesight. I wasn't expecting or looking for a problem. Any concerns that were brought up concerning Gabriel's vision were put to rest by the fact that the pediatrician NEVER noticed a problem while examining his eyes. At one point we were even told that Gabriel had great hand/eye coordination!
I often wonder how I could not know that my own child was blind. I noticed things about Gabriel that seemed unique and different, but I attributed this to him being unique and different. He was nothing like Oliver at the same age. Gabriel was very tactile, constantly feeling, tapping, and exploring his environment by touch. His hands were always in motion. He had great fine motor skills, and was able to manipulate toys at an age when most babies are not capable of doing so. I come from a family of musicians, so I figured that he had inherited the finger dexterity! At the same time, Gabriel didn't reach certain developmental milestones. He showed no desire to roll over, crawl, or sit up. He was content lying flat on the floor kicking, and playing with toys within arms and legs length. He was very sensitive to noise, and taking him to restaurants, the grocery store, or other noisy environments was challenging. Something wasn't right.
Through the urging of his grandparents and a family friend, we finally took Gabriel to the doctor to specifically have his eyes examined. We were immediately referred to an ophthamologist, who upon examination concluded that Gabriel had pigmentation of the retinas. He referred us to the Bascom Palmer Eye Institute in Miami to determine the diagnosis. It was Good Friday of Easter Weekend 2011, and we learned that our sweet baby boy was blind. It is hard to describe that time of our lives. Never before have we felt so broken. The day before I was still looking forward to having my boys chasing each other, playing ball, watching cartoons together, and now I found myself having to explain to my four year old that his little brother's eyes didn't work. One thing that struck me during these weeks was that Gabriel was happy and content as always. Blindness, to him, was normal.
We spent an entire day at the Bascom Palmer Eye Institute undergoing testing. The retinal specialist informed us that Gabriel was blind due to LCA, and there was no cure. Then she was gone, and we were left alone frozen in shock. Bert and I returned home, obsessed with finding research about LCA, and access to the internet made that pretty easy. We learned that there are several genes that cause LCA, and that there are approximately 3000 individuals in the United States that are affected by the disease. We also read about an 8 year-old blind boy, Corey Haas, who in a research study received gene therapy for a gene called RPE65 and had significant restoration of vision.....HOPE! Over the next several months we ordered genetic tests to determine which form of LCA that Gabriel had. The known genes made up 75-80% of LCA cases, and to add to our frustration, we tested negative for all of them. Not knowing what causes a disease like LCA is terrifying. Some LCA genes are known to cause other conditions, and so we were left worrying whether or not Gabriel would develop kidney problems or perhaps go deaf.
We finally received Gabriel's exact gene mutation a year after his initial diagnosis of LCA. We had been following a family's blog online, and they announced that a Dr. Chiang from the Casey Eye Institute in Oregon had discovered a new disease-causing gene in their son, Gavin. Gavin, two years older than Gabriel, is also blind due to LCA. To me, Gabriel's blindness seemed similar to Gavin's. Other forms of LCA are more progressive in that the children are born with some vision and are robbed of their sight as they get older. Some are legally blind by the time they are 5 or 6. Others maintain some vision until the teenage years. It varies depending on the gene. Gabriel, like Gavin was born completely blind, and both boys had similar pigmentation of the retinas. I contacted Jennifer Stevens, Gavin's mother, and she provided me with Dr. Chiang's information. I emailed him immediately, and to my surprise received an answer within minutes. That same hour we spoke on the phone. I appreciated the time and care that Dr. Chiang took to personally talk to me, and I felt that we were in good hands. After several months he was able to confirm that Gabriel's mutation was indeed on the new LCA gene, NMNAT1.
So now we wait and hope for a cure. In the summer of 2012 we attended the LCA Conference in Philadelphia, and also visited doctors at the Massachusetts Eye and Ear Infirmary in Boston. We learned a lot about possible future treatments. The research being done is impressive, and I am convinced that one day nobody will have to live in darkness. I just hope that it will happen for Gabriel. He is still at an age that he doesn't realize that he is different from others. He isn't sad, and he doesn't feel sorry for himself. Gabriel is an incredible little boy, and we never cease to be amazed at his perceptiveness and ability to adapt. At the age of two, he has inspired us and brought us much joy. I know in my heart that Gabriel will be ok, but I still have a sadness for my son that creeps up ever so often. The last couple of years, I have taken the words of St. Padre Pio to heart, to "pray, hope, and not worry". This isn't always easy to do.
We invite you to follow our blog as we describe the joys and challenges of raising a blind child. And hopefully in a not too distant future, we will be able to share what it is like the first time Gabriel looks into our faces.
We spent an entire day at the Bascom Palmer Eye Institute undergoing testing. The retinal specialist informed us that Gabriel was blind due to LCA, and there was no cure. Then she was gone, and we were left alone frozen in shock. Bert and I returned home, obsessed with finding research about LCA, and access to the internet made that pretty easy. We learned that there are several genes that cause LCA, and that there are approximately 3000 individuals in the United States that are affected by the disease. We also read about an 8 year-old blind boy, Corey Haas, who in a research study received gene therapy for a gene called RPE65 and had significant restoration of vision.....HOPE! Over the next several months we ordered genetic tests to determine which form of LCA that Gabriel had. The known genes made up 75-80% of LCA cases, and to add to our frustration, we tested negative for all of them. Not knowing what causes a disease like LCA is terrifying. Some LCA genes are known to cause other conditions, and so we were left worrying whether or not Gabriel would develop kidney problems or perhaps go deaf.
We finally received Gabriel's exact gene mutation a year after his initial diagnosis of LCA. We had been following a family's blog online, and they announced that a Dr. Chiang from the Casey Eye Institute in Oregon had discovered a new disease-causing gene in their son, Gavin. Gavin, two years older than Gabriel, is also blind due to LCA. To me, Gabriel's blindness seemed similar to Gavin's. Other forms of LCA are more progressive in that the children are born with some vision and are robbed of their sight as they get older. Some are legally blind by the time they are 5 or 6. Others maintain some vision until the teenage years. It varies depending on the gene. Gabriel, like Gavin was born completely blind, and both boys had similar pigmentation of the retinas. I contacted Jennifer Stevens, Gavin's mother, and she provided me with Dr. Chiang's information. I emailed him immediately, and to my surprise received an answer within minutes. That same hour we spoke on the phone. I appreciated the time and care that Dr. Chiang took to personally talk to me, and I felt that we were in good hands. After several months he was able to confirm that Gabriel's mutation was indeed on the new LCA gene, NMNAT1.
So now we wait and hope for a cure. In the summer of 2012 we attended the LCA Conference in Philadelphia, and also visited doctors at the Massachusetts Eye and Ear Infirmary in Boston. We learned a lot about possible future treatments. The research being done is impressive, and I am convinced that one day nobody will have to live in darkness. I just hope that it will happen for Gabriel. He is still at an age that he doesn't realize that he is different from others. He isn't sad, and he doesn't feel sorry for himself. Gabriel is an incredible little boy, and we never cease to be amazed at his perceptiveness and ability to adapt. At the age of two, he has inspired us and brought us much joy. I know in my heart that Gabriel will be ok, but I still have a sadness for my son that creeps up ever so often. The last couple of years, I have taken the words of St. Padre Pio to heart, to "pray, hope, and not worry". This isn't always easy to do.
We invite you to follow our blog as we describe the joys and challenges of raising a blind child. And hopefully in a not too distant future, we will be able to share what it is like the first time Gabriel looks into our faces.