When our 8-year-old daughter, Zeeva, giggles and runs in her walker to the swing set, it’s like watching pure childhood joy. Understanding what it has taken to get her to this point, though, is close to unimaginable.
Zeeva is one of fewer than 150 people in the world with a rare disease called Gould Syndrome or COL4A1/A2. This condition causes mutations in genes that produce a specific type of collagen. Because the collagen is found throughout the body, COL4A1/A2 affects many organ systems, including the brain, kidneys, eyes, and muscles. The disorder causes many symptoms, not the least of which are strokes and epilepsy. In her first six years of life, Zeeva spent hundreds of nights in the hospital, had 13 operations and countless procedures, (from eye surgeries to Achilles heel, a shunt placed in her brain, and spine surgery). She was struggling to advance both cognitively and physically because of uncontrolled epilepsy. She had seizures every day, couldn’t gain weight, sleep right, or generally enjoy her life.
When we didn’t feel we had any options left for treatment, my mom suggested we call Boston Children’s Hospital.
Read the inspiring story at https://discoveries.childrenshospital.org/epilepsy-surgery/