A Note from Co-Founder Kristen Gray
Our daughter, Charlotte Laurel Gray was born on December 5, 2010. As parents, we were anxiously awaiting her arrival and once she appeared, our hearts were full. Like all new parents, we were nervous about every little movement, sniffle and cry but soon, as time passed, those moments changed from worry to familiarity and then new hurdles and milestones approached. Charlotte was walking by one and very verbal from an early age, 15 months. She loves to sing, gymnastics, Babygroup, swimming, dance and many other activities.
In September of 2013, at 2 years and 9 months, Charlotte started school 2 days a week and she could not have been more excited. I thought I may have to stay in the classroom the first day but Charlotte waved good-bye to Mommy and never looked back. Half way through the school year, I noticed Charlotte’s speech was not on the upward trajectory it once had been. I asked her teacher about it and she did not seem concerned. At the end of the school year, I asked her teacher what she thought about Charlotte’s development and she said her only recommendation was to work on her fine motor over the summer. We had her evaluated for Speech and Occupational Therapy and started treatment in the Summer of 2014.
Charlotte began her first full year of Preschool in September of 2014 with much anticipation. While her fine motor and speech had improved, she still struggled in both areas developmentally. Over the summer, I noticed that there were things she could not do that her peers were doing with ease. Charlotte had hit a plateau and we did not understand why. We went to see a Pediatric Neurologist as something just didn’t feel right. At first she suggested that Charlotte may be on the mild-side of the autism spectrum; Gordon and I felt differently about that diagnosis so continued to dig deeper. On Christmas Eve, when we noticed a slight muscle tremor as Charlotte tripped over some packages, that changed everything.
In February of 2015, we had an EEG which showed some brain abnormalities and followed that with an MRI. The MRI came back with some white matter abnormalities so the specialists recommended genetic testing. It was March of 2015 that the results came back and Charlotte was diagnosed with Late Infantile-NCL Batten Disease CLN6. Not only was this a very rare disease but the specific variant, CLN6 was even more rare. The geneticist told us there was limited data out there but that this was a neurodegenerative brain disease that would leave our daughter blind, immobile, cognitively impaired and eventually dead between the ages of 6 and 12. There are very few families in the world with this and most specialist know very little about this disease. Our world was shattered.
As a result of this diagnosis, we were told there was a 1 in 4 chance our younger daughter, Gwenyth, shared the same genetic mutations. We immediately had Gwen tested and she too shared the same diagnosis. Once again, pure devastation hit.
With a healthy diet and supplements, the girls remain strong. While Charlotte isn’t where she should be at her age, she is still walking, talking and smiling.* One thing has remained constant with Charlotte and that is her happiness. She loves her family and friends and greets everyone she meets with a smile. As parents, we never want to take away that smile so a cure is our focus. Our daughter Gwen is almost two and at this time asymptomatic. She loves her big sister and enjoys many of the same activities that Charlotte does. We are hoping to protect Gwen 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. Our definition of suffering has changed quite dramatically with this diagnosis and we are hoping to shield them from the pain that many children with Batten disease have experienced, paving the way for new outcome.
Thank you for joining us down this difficult road to fund a cure for Batten disease.
-Kristen Gray, May 2015
*Editor’s Note: In the 10 months that followed the writing of this note, Batten disease aggressively impacted Charlotte’s abilities to walk unassisted, sit up without falling, and access her once extensive vocabulary. Since participating in the investigational gene therapy trial in early 2016, she is showing many reasons to be optimistic, but we know the road ahead will require intensive therapy and education to bring back what Batten has taken.