In September 2013, Charlotte started school two days a week and could not have been more excited. But halfway through the school year, I noticed her speech wasn't really progressing, so we had her evaluated for Speech and Occupational Therapy. She started treatment in the summer.
Charlotte's fine motor and speech had improved by the next school year, but she still struggled in both areas. But then, on Christmas Eve, when we noticed a slight muscle tremor as Charlotte tripped over some packages, everything changed.
In February 2015, her EEG showed some brain abnormalities, and her MRI came back with some white matter abnormalities, so the specialists recommended genetic testing.
Charlotte was diagnosed with Late Infantile-NCL Batten Disease CLN6 in March. Not only was this a rare neurodegenerative brain disease, but the specific variant, CLN6, was even more rare. The geneticist told that it would leave our daughter blind, immobile, cognitively impaired, and eventually dead between the ages of 6 and 12. Other than that, there's very little known about the disease. Our world was shattered.
As a result of this diagnosis, we were told there was a 25% chance our younger daughter, Gwenyth, shared the same genetic mutations. We immediately had Gwen tested and she, too, had the same diagnosis.
With a healthy diet and supplements, the girls remain strong. Charlotte is still walking, talking, and smiling. We never want that smile to fade, so our focus is on finding a cure.
Our daughter Gwen is almost two and at this time asymptomatic. We are hoping to protect her from the early onset of this disease by integrating both an Eastern and Western medical approach.
There is nothing more devastating than watching your children suffer. We are hoping to shield them from the pain that many children with Batten disease have experienced, paving the way for a new outcome.
Thank you for joining us down this difficult road to fund a cure for Batten disease.
Photo courtesy of the author