by Christina Defina

Keira is 5 years old. She was born with a rare genetic eye disease called LCA or Lebers Congenital Amaurosis. It’s a progressive disease that affects the retina, meaning it could get worse. It causes severe vision loss at birth or shortly after. Some are left with residual vision that is useful and some only light perception. Keira has some vision. There are at least 18 known genes to cause this disease.
Keira began having symptoms around the age of 4 weeks old. Her symptoms included nystagmus, no eye contact, and not tracking objects. We saw a local ophthalmologist then then to Johns Hopkins for a second opinion. She was misdiagnosed with just having nystagmus and told she was fine. At her 6 month checkup her nystagmus changed from horizontal to vertical and an MRI was ordered. That led to another misdiagnosis of chiari malformation and to a neuro-surgeon. She underwent a crainiectomy(removal of a piece of her skull at the base) to create more space around her brain in case it may be the cause for her symptoms. After her follow up 1 yr later and no improvement or answers, we went for a third opinion to children’s national. We saw a neuro-ophthalmologist who immediately ordered an electro-retinogram. Keira was 2 yrs old by this time. This test gave her a diagnosis of LCA. We were then sent to a genetic counselor to determine her gene mutation. They were unsuccessful and thought that it was unimportant to know the gene since currently there is no cure. We were then referred to the national eye institute where we met Dr. Brian Brooks. And a new genetic counselor. They were very thorough and quickly successful in finding the gene mutation.
Keira’s gene mutation is in the IQCB1 gene unfortunately also linked to kidney failure. If we’d had listened to the first geneticist we would not have known to see a nephrologist to watch for failing kidneys. At this point there is no cure but there is research being done in search of one. Keira gets around well but struggles greatly in school. She already resentful at the age of 5 that she’s blind and different from everyone else. It’s hard to watch her struggle this way. I hope that she will accept her disease someday soon and feel that it’s okay to be different. My advise is to be patient and never give up. Spread awareness and never lose hope.

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