Constance’s Story
In late 2025 I saw a Physical Therapist for chronic back pain, I have Scoliosis so that's not exactly out of the ordinary but it was getting to a point where I couldn't sleep at night and struggled to stand or sit for any long period of time, so off to PT I went. During my evaluation the Physical Therapist pointed out my hypermobility and family history and asked if I have a family history of EDS (Ehlers-Danlos Syndrome) I said no. After that I went home and after some family meetings we decided it would be smart to mention the idea to my doctor.
While waiting for my appointment with a specialist i had genetic testing ordered. The most common type of EDS (hEDS) doesn't show up on genetic testing, but given my strong family history of aneurisms, strokes and blood vessel issues we thought it would be smart to get testing done to check for the more rare types that DO include those symptoms.
A few months later I got my results.
And that brings us to today.
Good news, I don't have a serious form of Ehlers-Danlos Syndrome.
Bad news, i have something way rarer. I have a extremely rare variation in my COL4A1 gene, known as Gould Syndrome.
There are approximately 850 people who have it worldwide.
Being a connective tissue disorder it can affect any organ and tissue, but most commonly affects the brain, eyes, muscles and kidneys. There is no treatment and no cure.
Looking back on it, things start to make sense. I have a strong family history of aneurisms, strokes and blood vessel problems with no apparent cause. As a kid I had a lot of "little" things that aren't weird alone, but make sense when you look at the entire picture. I had near constant nosebleeds as a kid, I've had random headaches and migraines my entire life, I've always bruised extremely easily and for no apparent reason, I'll have debilitating cramps that will put me on the floor with no warning or reason, the list goes on.
It's nice to finally have an answer, even if that answer doesn't provide a fix, I'm hopeful for future research.
Make a gift in honor of Constance 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