BiographyElijah failed his newborn hearing screening, and a week later, he failed an ABR test and was diagnosed with bilateral profound deafness.
At 5 weeks old Elijah was hospitalised with seizures and received a diagnosis of epilepsy. Despite taking 3 anti-epileptics daily, he continues to have upwards of 10 seizures a day.
During this hospital admission, a few people asked if Elijah could see. He had been diagnosed with cataracts at birth but no-one had mentioned anything else regarding his vision. At 4 months old, after some testing, Elijah was registered blind. His ophthalmologist believes he has no vision at all due to his retinas and optic nerves being underdeveloped.
Elijah had multiple genetic tests done but everything came back clear.
After an admission to Alder Hey, Elijah's neurologist suggested mitochondrial disease and sent off bloods for testing. 6 months later, we received the devastating diagnosis that Elijah does in fact have mitochondrial disease. His specific type is called CODAS (Cerebral, Ocular, Dental, Auricular, Skeletal) Syndrome. There are less than 30 cases reported worldwide, and Elijah is the first known case in the UK. We were told that, due to the lack of medical literature, the doctors could not give us an accurate prognosis, however, the general consensus is that the earlier symptoms of mitochondrial disease occur, and the more bodily systems involved, the poorer the prognosis. Unfortunately, Elijah had presented with symptoms from birth, and most of his bodily systems are affected.
However, Elijah is currently defying all expectations and is now 2 and 1/2. He wasn't expected to see his first birthday. While Elijah has not made much progress with his development, due to progressive damage to the white matter in his brain, he has recently laughed for the first time, after receiving a cochlear implant, just after his second birthday.
|
