Written by Lauren Williams
On August 4, 2023, I contributed an article to Patient Worthy about how I transformed my mindset from “Why me?” to “Why not me?” following my son Carter’s diagnosis with GRIN1 neurodevelopmental disorder. In the article, I remarked that Carter made my world crash down before we rebuilt a beautiful kingdom together. On September 28, 2023, Carter passed away suddenly due to complications of his disease. My world crashed down once again, but I soon realized that Carter’s death did not mean the destruction of the kingdom we built. In fact, I am now more motivated than ever to make him proud by sharing his story and continuing our work to advocate for others impacted by GRI-related disorders.
The day Carter Keith was born was the best day of my life. After following every instruction from my doctor and being as healthy and careful as possible for 36 weeks, our son was perfect. Like all new parents, my husband Casey and I spent the weeks after our son’s birth learning how to navigate diaper changes and midnight feedings. By the time Carter was three months old, it was clear that many of his behaviors weren’t “normal.” Carter wouldn’t sleep, missed many developmental milestones, experienced hypotonia (low muscle tone) and had trouble gaining weight because of his constant vomiting. It took several months, consultations with ophthalmologists, neurologists, gastroenterologists and neuro-ophthalmologists, and extensive testing to reveal Carter’s diagnosis with GRIN1 neurodevelopmental disorder.
After Carter was diagnosed, we immediately began looking for information about the condition as well as a community of families who were also impacted by it. We learned that GRIN1-related neurodevelopmental disorder is part of a larger group of syndromes called GRI disorders, which can cause a wide range of symptoms, including seizures, developmental and speech delays, and muscle weakness. Many children with the condition experience challenges with walking, talking, eating and performing basic daily activities. Casey and I also learned that there are currently no treatments available for the disorder, and care is limited to a variety of therapies, nutritional support, and medications to help manage symptom severity.
As is the case with many rare diseases, Carter’s doctors couldn’t provide us with many insights about what we should expect in his future. GRIN-related neurodevelopmental disorder was only classified in 2010 and information related to the effects of the disease and Carter’s prognosis were very limited.
Once Casey and I were able to adapt our daily routines to include bringing Carter to various physical, vision, swim, and occupational therapy appointments, it seemed like his condition had stabilized. Carter didn’t have as many doctors’ appointments as he once did, and he was able to go to school and participate in activities with other kids his age. In May 2023, his health began to decline but testing didn’t reveal any significant new problems. We were blindsided when he passed away just four months later.
When Carter was alive, my purpose was to ensure his happiness and give him the best quality of life possible. I quickly realized that advocacy would play a huge role in helping me achieve my goals. My husband and I learned the hard way about the feeling of isolation that often comes with a rare disease diagnosis. As we tried to wrap our heads around the fact that Carter had a condition we never heard of, I began joining dozens of Facebook groups and scouring the internet to find other families affected by GRI disorders. We quickly realized that even though thousands of people were living with these conditions, there was no true “community” where families could share their experiences, learn about research developments and find support.
In 2018, I worked with a few GRIN1 families in the to establish CureGRIN, a nonprofit dedicated to improving the lives of people around the world affected by GRI disorders and their families through research, education and resource support. Since the organization was founded, we have grown from 30 families to thousands and raised more than $2.3 million to advance research, partner with pharmaceutical companies and champion advocacy efforts, as well as educate and connect the global GRI community. My advocacy work also led me to testify at the state legislature on behalf of Carter, which is something I never imagined I would do.
In the 13 months since Carter’s passing, I have felt the impact of his too-short life in every moment of every day. Carter was resilient, stubborn, passive-aggressive, sociable, hilarious, and charismatic—he is and will always be the love of my life. He taught me about the importance of communication, determination and finding beauty in the most unexpected places. Carter was never able to verbally communicate during his life, but he was able to make the GRI disorder community and the world a better place.
I feel lucky to be able to channel my grief and love for Carter into my ongoing work with CureGRIN. While Carter will not benefit from the important research we are supporting, he would be extremely proud to know that his legacy is helping to create a future where other kids do not have to face the same debilitating symptoms he did. When Carter was diagnosed, there was little to no research occurring in the GRI disorder community. Today, encouraging clinical trials are underway, providing us with hope that treatment options will be available in the near future. Until then, I will strengthen the kingdom that Carter and I built together by advocating on behalf of my son and all who struggle with GRI disorders.
Author Bio: Lauren is a co-founder and Director of Family & Donor Experience for the CureGRIN Foundation, a nonprofit dedicated to improving the lives of those diagnosed with GRI disorders. She is a graduate of Louisiana Partners in Policymaking and was appointed to the Louisiana Rare Disease Advisory Council in 2022, advocating on behalf of Louisianans living with rare diseases. Lauren’s love for her son, Carter, who was born with a mutation of the GRIN1 gene, has ignited a new ambition and purpose in life: finding a cure for GRI Disorders. To learn more about the CureGRIN Foundation, visit www.CureGRIN.org.
