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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.
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These stories are shared by real families living with SETD5 Syndrome, in their own words. Submissions are lightly edited for clarity and readability. More will be added as families get in touch.
How we arrived at the diagnosis
Diagnosed through the 100,000 Genomes Project. I was told when I was pregnant that there may be something wrong due to Lilly having a high nuchal reading. Since birth I was seeking answers to her many conditions and symptoms. Getting the diagnosis is an amazing starting point to know what's happening to our children, family member or friend.
Advice you'd give someone right after diagnosis
Research as much as possible. Not all symptoms are guaranteed and will vary in severity from child to child. I would definitely join the Facebook group. As a community they have helped to answer questions, help with diagnosis, and my favourite is seeing photos as our children grow up and seeing how SETD5 makes them all look so similar!
What this life has taught us
Lilly is a happy, gentle child. The description "not a bad bone in their body" is made for Lilly. Although she may be stubborn at times and annoy her younger brother, she never gets angry. She has the most amazing imagination and is so creative. She could draw all day long. She loves creating little worlds either with toys or with an online game. She's not a fan of physical activity as she struggles with balance and fatigue. She'd be happier indoors setting up a scene to play with her dolls, and eating all the snacks!
Life is a bit of a struggle at the minute whilst Lilly doesn't have a suitable school. We've had a few new issues, mainly gastro issues and bone pain. But Lilly is extremely resilient and she makes her way through it all.
We are very lucky in the UK to have our NHS, but I am always surprised that we do not have a connected, coordinated care system. We have to see specialists from all different hospitals for different conditions, and none talk to each other. They are all seen individually rather than a collective.
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.