Salima Qribis talks of her experience navigating an “invisible” rare disease and her mission to make the invisible, visible

Some stories whisper through time, barely heard, barely remembered—hidden in plain sight, buried in medical journals, lives in silence. And so my story begins in that limbo, where the echoes of the past meet the voices of today. 

Behind the secrets of this Pandora’s box, lies a condition, first described decades ago in medical literature and remains largely unfamiliar to the wider world and yet its impact is profound. Meet Cowden syndrome. 

So, what does it mean? Cowden syndrome is a rare genetic disease caused by changes in the PTEN genes and it can touch many parts of the body in ways that aren’t always easy to see. It often runs in families but sometimes it appears for the first time in someone with no known family history, known as de novo mutation. That means even if the condition is not inherited from either parent, a person with a de novo mutation can still pass it on to their children, who then have 50% chance of being affected. 

Symptoms vary—sometimes, a wart may not be a wart. It can be a small growth called a hamartoma, appearing on the skin, in the mouth or in organs—usually harmless but noticeable and it also comes with a higher risk of certain cancers: thyroid, breast, uterus, etc. So, because everyone experiences it differently, recognising the condition can be tricky. 

Living with Cowden syndrome can feel like being at war—with your body, with uncertainty, sometimes even with yourself. The signs are often hard to notice or mistaken for other conditions, leading to misdiagnoses and years of unanswered questions. Some days your body feels a lot older than you are, with fatigue, aches or unexpected changes, and it can be hard to know what is normal and what is a warning. 

So yes, there will be surgeries, tests and countless check-ups, each carrying emotional weight and financial strain. Some doctors may seem confident but have little understanding of this rare condition or maybe have not heard of it, leaving you to navigate confusing symptoms on your own. A bump on the skin might be more than a pimple; a swelling or sudden change could point to the thyroid or other organs. 

Despite the fear, frustration and isolation, living with Cowden syndrome also teaches resilience. You learn to listen to your body, advocate for yourself and find strength in each small victory. Every challenge is a reminder of the importance of awareness, understanding and connecting with communities. 

Experiencing these struggles firsthand made it clear to me that something had to change and this is how CS ECHO was born. I founded this digital association to connect people affected by Cowden syndrome, share experiences and provide reliable guidance. We also aim to educate doctors, many of whom are unfamiliar with this rare condition, so patients can receive the understanding and care they deserve. 

CS ECHO is a place where patients, families and healthcare professionals come together—a space to feel seen, supported and never alone. Our mission is simple: no one should face this journey alone. Through every story shared, every voice heard and every moment of clarity, I believe we can make a real difference. By raising awareness, supporting patients and educating the medical community, CS ECHO strives to make rare conditions visible. So yes—let’s make rare visible.

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