Personal stories from families living with SETD5 Syndrome, in their own words.
We need your help
Every family's journey with SETD5 Syndrome is different. Sharing yours, even a small part of it, can help another family know someone else has walked this path, whether they were just diagnosed or have been on this road for years.
Stories are reviewed before being published. Your last name is never used.
The story below is a real family's story and shows what others can share. This page just launched and we are still collecting stories — more will be added as families submit them.
How we arrived at the diagnosis
Our journey to diagnosis took 11 years and countless appointments, unanswered questions, and a lot of watching and waiting. Microarray testing when my son was eight showed nothing, but a single-gene change wouldn't have been detected that way. The turning point came when a kind doctor finally took our concerns seriously, leading to more in-depth genetic testing that confirmed what we'd always known and that something was going on medically and developmentally. The answer was SETD5 Syndrome.
Advice you'd give someone right after diagnosis
Trust yourself, trust your instincts, and keep listening to your inner voice, because no one knows you or your child better than you do. And give yourself grace for the hard days, because there will be some. But I promise you, there will be many, many good ones too.
What this life has taught us
SETD5 Syndrome has taught me how important advocacy is. Because the condition is so rare, it falls to families like ours to push for answers and share what we learn along the way. We are all building this road together. It has also taught me so much about my son. He has real challenges, but he is also strong, kind, creative, and funny, and his way of seeing the world never ceases to amaze me. It's something special to read the research and see them highlight the happy disposition that many people with SETD5 Syndrome share.