Hi everyone, we're Marcos and Tatiana, Pedro's parents. We are Brazilian’s, originally from Salvador, State of Bahia. Today we live in Brasilia, Brazil’s Federal Capital. Pedro, our beloved son, was born October 16, 2010. He has been our greatest joy!
Our son is a fantastic boy, very smart and happy. His smile is contagious. He loves listening to music, playing instruments and loving to be read to. His joys are playing in the water, playing with his dog and singing. Last year we noticed that he has absolute pitch and this is amazing! He can identify any given musical note without a reference tone. He also has a great memory.
Pedro is our first son and took us a while to notice that something wasn't right. The pediatricians never noticed anything wrong, and neither did the ophthalmologist at a routine consultation when he was 6 weeks old. Later on, we found out that on the first months eye examinations of infants with LCA reveal normal appearing retinas.
When he was 11 weeks old, that we noticed that his eyes had a different eye movement, which we found later to be nystagmus. Not knowing the diagnosis was the worst thing ever. We were very scared. After consulting many doctors the question became: Does he have Leber’s Congenital Amaurosis? We of course never heard of this rare disease, and we have no family history of blindness in our families either. The first thing all the doctors would ask us is if we were parental related, which we are not.
We decided to begin our travels to find out more about this disease and to examine if there were any cure. We traveled many miles through several states and to Sao Paulo were we met Dr. Juliana Sallum. She then diagnosed Pedro with LCA and suggested genetic mapping which we just ended up recently identifying the gene NMNAT1, responsible for his blindness.
The discovery of this gene was a great moment of satisfaction because we can now direct our forces to try to help in any way possible to find treatment to help Pedro and others affected with LCA. Pedro inspires and amazes us all the time, and we feel absolutely blessed to have him.
Our prayers are that one day Pedro, and others with LCA, will admire with their eyes, all the beauty of this world, and it will be the happiest day our lives! It's a great satisfaction sharing our history across the globe.