In September 2017, my husband and I welcomed our perfect baby into the world. Nell is our only child and we have enjoyed getting to know who she is and supporting her on the journey of life. Nell has had issues with vision since she was 3-4 years old. At her annual eye exam in June of 2024 we learned that Nell had more than just typical vision loss. There was most likely a genetic diagnosis but the specialist could not be certain so they did genetic testing on 305 different genes that could result in the macular degeneration they were seeing.
On September 11th we had a meeting with the genetic counselor with UW Ophthalmology to discuss Nell's results. The news was devastating. Nell has Batten Disease. Life as we knew it, as we planned it, was changed forever. Our brave, strong, energetic, creative, empathetic little girl has a very rare terminal progressive neurodegenerative disease.
Our family values and goals have shifted and we are grateful that we get to focus on what makes Nell happy and how we can increase the quality of her day to day experiences. We are getting to know her in a whole new way and we couldn't be more in love. She is still brave, strong, energetic, creative, and empathetic; she is also still perfect.
We want to support the BDSRA in their efforts to advance research and advocate for and support families with loved ones who have been diagnosed with Batten Disease. We trust the BDSRA and their efforts and want to allow them to put the donated funds to where the need is greatest.
