A Metaphor for Depression

Program: FLVCR1

Grace’s Story:

Grace Hoyt is a smart, witty, and artistic teenager who is in the midst of high school. She enjoys listening to audiobooks, especially fantasy romances like the Fourth Wing series and Throne of Glass. She helps take care of her younger brother during the summer and is an incredible singer. Grace is also disabled: she is legally blind and can’t feel pain.

There has never been a time in Grace’s life when she was fully healthy—not even in utero. Grace had tracheomalacia at birth, and she started showing gross motor delays by the time she was 6 months old. When Grace was a year old, her parents realized she could not feel pain after several incidents that should have been very painful. When she was nearly three years old, her family was told that she was legally blind, and by the age of five, they received a diagnosis for her condition—Posterior Column Ataxia with Retinitis Pigmentosa (PCARP), caused by a mutation in her FLVCR1 gene. Even at that young age, Grace had advanced symptoms, showing that her disease was severe.

Through the years, Grace has struggled with health issues, particularly infections. Since she cannot feel pain, infections become very severe before they are visible, resulting in more than 20 hospitalizations throughout the years. Because she is legally blind, she has difficulty assessing her body for wounds, as most people who do not feel pain learn to do. Her disease is progressive, and although she is at the end point of the sensory nerve component that makes her unable to feel pain, she still has some vision.

Several years ago, Grace’s ophthalmologist approached her family with an idea to save her remaining vision—a first-of-it’s-kind experimental ASO treatment designed specifically for Grace to stop the progression of her eye disease. Her family eagerly agreed to apply to be a candidate for an n-Lorem medicine. However, COVID intervened, and it was several years before Grace was able to receive the first dose of the experimental medication, which she received on her 13th birthday. She has received doses every six months since that day. Although it may still be too early to tell, it seems to Grace and her family that the medication is working—Grace’s vision has not worsened since that first dose.

Without the n-Lorem Foundation providing this medication to Grace, she may not have had the chance to preserve her remaining vision. Importantly, Grace is able to assess her sometimes life-threatening skin infections, which could save her life.

Grace will continue to face challenges throughout her life due to her disabilities, but her family is able to breathe a little easier knowing that both they, and others, are working to preserve her remaining vision. Grace is grateful. She even is able to read snippets of her “book children”—the hard copy versions of her audiobooks—due to the eye treatment she’s receiving. Her future is looking brighter than it ever has.

* In 2024, Grace received her first dose of a personalized experimental ASO medicine discovered and developed by n-Lorem