My daughter Keira was diagnosed with Leber’s Congenital Amaurosis (LCA) around the age of one; she is now 19 months old.
We first realized something wasn’t right when she was just six weeks old, when she wasn’t looking at me or following objects or focusing on anything. Also, her eyes would shake (nystagmus). She saw her first eye doctor at eight weeks old. I was devastated, thinking my daughter was blind! The doctor said she didn’t appear to be seeing the way we would expect, but her eye exam looked normal.
We went to John Hopkins for a second opinion. There, we were told she just had nystagmus, but would see just fine– and to follow up at six months. The direction of her nystagmus changed, and they ordered an MRI. That revealed a very mild chiari malformation, and a couple days later, we were in a neurosurgeon’s office scheduling surgery.
He told us that surgery may not even be necessary, but he recommended it just in case it was the cause of her eye problems. So, on April 13, 2012, Keira had brain surgery to remove part of her skull. We now know that the surgery was unnecessary because her vision remained the same. On our next visit to the opthamologist I asked for a test called an ERG. However, she believed there was no need for further testing at this time– and she believed that Keira’s vision impairment was all from the chiari and would get better in time.
But I didn’t believe that. So I took her to a third doctor. This time, a neuro/opthamologist at a children’s hospital in DC. He immediately ordered some photos of her eyes and the ERG. Immediately, he had recognized the signs and symptoms of LCA.
The test did come back positive.
We finally had a diagnosis and are now waiting on results for genetic testing so that we can find a cure! Keira is delayed a bit, but is progressing well. We work with the infants and toddlers program and they are wonderful for early intervention. Keira is not completely blind. She does have some residual vision and is using it along with all her other senses. I have accepted the fact that she can not see well but am not ready to accept the fact that she could one day lose her remaining vision. I am hoping to learn, study and research more about her genetics so I can have hope for a cure!