When our eldest daughter, Charlotte, went to preschool, she was just like any another 2.5 year old girl: talkative, loved to sing and dance, and enjoyed swimming, gymnastics and many other activities. But by the middle of her first year in preschool, I noticed her speech progression had plateaued and I became concerned enough that I spoke with her teacher about it. The teacher’s only recommendation at the end of the year was for Charlotte to work on her fine motor skills over the summer.
However, despite Speech and Occupational Therapy over the summer, I noticed there were things Charlotte could not do that her peers were doing with ease. Growing more concerned, my husband and I decided to see a pediatric neurologist, who initially suggested that Charlotte may be on the mild side of the autism spectrum. We didn’t feel comfortable with that diagnosis; we felt there was more going on and we kept pressing for answers. When we noticed a muscle tremor after she tripped on some packages on Christmas Eve, and additional tremors in early January, we knew we were right to keep searching. A few months later, after an EEG, an MRI and genetic testing, we received the diagnosis of Late Infantile-NCL, CLN6, a rare subtype of a group of diseases called Batten disease; a rare, genetic, neurodegenerative brain disease that leads to progressive vision deterioration, motor function delays and regression, and cognitive difficulties. At the time, there were no treatments or cures available for any subtype of Batten disease and children with the CLN6 subtype had a typical lifespan of only 6-12 years of age.
We finally had an answer, but it was a heartbreaking one. Even more heartbreaking when we were told there was a 1 in 4 chance that our younger daughter, Gwenyth, shared the same genetic mutations. A genetic test confirmed our worst fears – both daughters were diagnosed with the CLN6 subtype of Batten disease.