Michelle’s Story
I recently learned I have been living with Gould Syndrome my whole life (over 50 years!) when my eldest daughter was confirmed to have inherited it from me, after searching for the cause of her focal onset impaired awareness epilepsy and hemiparesis cerebral palsy. My youngest daughter also inherited the gene mutation, but we all three show it differently.
I was floored by the diagnosis, but in hindsight, it really helped describe my long-time health concerns, my daughter's seizures, and will assist us in modifying our environmental living to possibly prevent devastating effects later in life.
No one wants to get welcomed into this club, but we are very fortunate that there are wonderful researchers and clinicians that want to help us! I am so passionate about this and how it affects those of us, that I joined The Gould Syndrome Foundation and am actively passionate about sharing this information.
It is my personal belief that there are so many more people with Gould Syndrome worldwide, but they just haven't been diagnosed yet. I'm very happy to share my journey with anyone and would love to raise enough money to assist the science in treating patients with Gould Syndrome.
Make a gift in honor of Michelle and her family 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