So today was hard. My Batten family, I am sure, can relate to what I am about to say. After Brandon turned 18 we had to apply for Social Security Disability for him as an adult. Part of that process required a visit to an eye doctor, at their expense, to confirm his current visual acuity. We knew going into this appointment today that he didn’t have any vision but we hadn’t put him through an eye exam in 7-9 years. Keep in mind that before we got a confirmed Batten diagnosis he went through a variety of eye related doctor appointments and tests. ERG, EEG, eye exercises, optometrists, ophthalmologists, you name it. Imagine you are losing your eyesight as a 6-7 year old and you don’t know why, then have your eyes dilated for an exam. Not only do those drops kinda sting but then the vision that you do have is out of whack for several hours. Fast forward to today and we had to dilate his eyes for the doctor to see the back of the eyes. I had to help the nurse to keep his eyes open enough to get the drops into his eyes and then we sat back and waited for them to work. The doctor came back in and the first questions she asked was what type of Batten Disease he had 1,2 or 3. The struggle is real for families with rare diseases, she obviously was not familiar with Juvenile Batten Disease, which is NCL3, had just looked up Batten Disease and needed clarification. Then she took a look into his eyes and started quoting to the nurse who was taking notes. “Severe optic nerve atrophy, significant pigmentation damage and no macular definition.” Translation: he’s blind.
My logical brain knew this was coming but my heart took that punch. Square in the chest, sucked the wind right out of both of us.
Good thing this was the end of the appointment because the rest of the visit and what she talked about was a blur.