If you’re here because your child was just diagnosed with Lowe syndrome, we’re glad you found us — we know this can be an overwhelming and frightening time. What you’re feeling right now — the fear, the unknown, the questions, the implications, the weight of the entire diagnosis — is something every family in this community has felt.
You’re Not Alone
Each family impacted by Lowe syndrome will tell you the same thing: finding this community is a lifeline.
Although Lowe syndrome affects almost exclusively boys, each child brings his own challenges and strengths. Every journey is different — and our community has spent years learning alongside one another, building knowledge, educating themselves and their doctors along the way. The Lowe Syndrome Association and fellow Lowe syndrome parents are here to share that real-world guidance with you.
“I was no longer alone. I had someone else to talk to about my son. All this time, I thought my son might be the only case in existence.”
— An LSA parent
Here you’ll find families who are living this journey, who understand it in ways few others can, and who are ready to support you through the moments that are confusing, exhausting, and hard to explain to anyone outside this world. We celebrate every milestone together — the small wins most people wouldn’t recognize, and the big ones too. We’ll help you find the answers and support you need.
You’ll also find the work the Lowe Syndrome Association (LSA) is doing to advocate for our boys, fund research, and support families at every stage of this journey. This community is building something — and you are already part of it.
Connect with an LSA family peer — someone who has been exactly where you are and can answer the questions that don’t fit neatly into a medical explanation.
Join the LSA community — free membership gives you access to our family network, resources, and the people who will become your people.
How Lowe Syndrome is Diagnosed
If you haven’t yet received a confirmed diagnosis, Lowe syndrome is identified through genetic testing. A geneticist will guide you through this process — typically starting with a urine and/or blood test, followed by a specific genetic test for the OCRL gene (oculocerebrorenal syndrome of Lowe). If you’re in the U.S., your geneticist may use a lab such as Labcorp for this testing.
For a detailed clinical overview of diagnostic methods — including prenatal testing and carrier detection — visit our Genetic Testing page.