jAMES’s Story
James is three years old, and he is full of life, joy, and determination.
Our journey with Gould Syndrome began when he was just three weeks old, when someone first noted that he had low muscle tone. At the time, we didn’t fully understand what that might mean, but as he grew, we started to notice that he was behind on some of his gross motor milestones. Around seven to eight months old, we were referred to a neurologist. That referral led to a brain MRI that came back very concerning. From there, we were connected to genetics at Texas Children’s Hospital, where we finally received a diagnosis: Gould Syndrome. Like many families, we were suddenly navigating a rare condition with more questions than answers.
Since then, James has made incredible progress. Through physical therapy and consistent support, he has continued to grow stronger every day. One of the biggest things we’ve learned is that no two individuals with Gould Syndrome are the same. There is a wide spectrum, and the path forward isn’t always predictable. While that uncertainty can be challenging, it has also taught us to focus on who James is today and to celebrate every bit of progress along the way.
James is so much more than a diagnosis. He is a happy, active little boy who loves to play, dance, and jump on the trampoline. He enjoys spending time with his friends, swinging at the park, and swimming. He loves coloring and reading, and his personality shines in everything he does.
Gould Syndrome is part of his story, but it does not define him. What defines James is his strength, his determination, and the joy he brings to those around him.
Our hope in sharing his story is to help others understand that a diagnosis does not determine a child’s potential. With the right support and encouragement, children with Gould Syndrome can grow, learn, and thrive in their own unique ways.
Make a gift in honor of jAMES today!
This Gould Syndrome Awareness Day weekend (April 11-12), your gift goes directly toward travel stipends for researchers and families attending the 3rd International COL4A1/A2 Conference in Boston this May.
Donate now and double your impact: Check if your workplace provides donation matching to maximize your contribution.
About The Gould Syndrome Foundation
Gould Syndrome is a rare genetic disorder affecting multiple systems, often involving cerebral vasculature defects, ocular dysgenesis, myopathy, and kidney abnormalities. Emerging features include brain and lung abnormalities. It is diagnosed through a COL4A1 or COL4A2 genetic variant. If inherited, the carrier parent may be mildly affected or unaffected, potentially due to mosaicism, where mutation presence varies across cells.
Donations received support The Gould Syndrome Foundation’s mission to empower and improve the lives of affected individuals and their families through awareness, advocacy, education, and supporting research. We rely on our Scientific and Medical Advisory Board to help guide our decisions when funding research, and will review all applications for research funding using a system of peer review. Our Scientific and Medical Advisory Board is an international group of researchers and doctors expert in all aspects of Gould Syndrome who volunteer their skills to guide our foundation's decision making. Your donation makes a difference in learning more about this rare disease and possible treatments.
If you prefer to donate by check, you may mail it to the following address, and note that your donation is in honor or in memory of a specific individual:
The Gould Syndrome Foundation
25 Pinecrest Avenue
Peabody, MA 01960
The Gould Syndrome Foundation is an official entity recognized by the federal government and a 501(c)(3) non-profit charitable organization. Your donation is tax deductible. Tax ID: 33-1807591