02/28/2026
We are rare, but we are not alone.
Every year on this day, February 28th (and February 29th on leap years), the world comes together to celebrate and raise awareness for the 300 million people living with a rare disease. Rare Disease Day has become a global movement, with over 7,000 identified rare conditions — most of them genetic. In the U.S., a rare disease is defined as affecting fewer than 200,000 Americans.
More than half of people with rare diseases are children. And less than 10% of rare diseases have any treatment. Imagine: Over 90% of those living with a rare disease have no approved treatment, let alone a cure.
Many rare diseases are so serious that up to 30% of affected children may not live to see their fifth birthday. Smith-Lemli-Opitz (SLO) syndrome is one of those conditions. Sadly, many babies born with Smith-Lemli-Opitz syndrome do not survive their first year.
Often, rare diseases remain undiagnosed for years. This is true for Smith-Lemli-Opitz syndrome — one more reason to focus on raising awareness.
People with Smith-Lemli-Opitz syndrome exist on a wide spectrum, from mildly to profoundly affected. Some individuals with SLO can speak and write; others are nonverbal but communicate using sign language, PECS, or an iPad. On this Rare Disease Day, I ask you to speak to nonverbal people. People who cannot speak can still hear your words and feel your concern, compassion, and friendliness.
Some with SLO experience intense food-seeking behaviors and eat everything they can get their hands on. Others receive their nutrition through a gastrostomy (G) tube. For those children, the early years often include what feels like unrelenting vomiting, to the point where their parents carry bowls everywhere they go. Most children with SLO are also very poor sleepers, leading to many years of disrupted sleep for both child and parents. These early years of SLO are difficult. On this Rare Disease Day, I ask you to reach out to parents who often make it look easy. It isn’t. Ask how you can help.
Many children and adults with SLO engage in behaviors that injure themselves or others — often one of the most difficult aspects of the condition. Some bite themselves and/or others. Some bang their heads and must wear protective helmets to avoid irreversible injuries. Some scream for hours on end. No parent can fully prepare for this level of sustained psychological and physiological stress, which can affect our health, our relationships, our careers, and even our identities.
And yet, while all of the above may be true, we fiercely love our children with all of our hearts. We love their idiosyncrasies and their uniqueness, the sweetness of their hugs, and the purity of their love. Like any parent, we live to see them smile, laugh, and enjoy life.
On this Rare Disease Day, and every day, we want to raise awareness about Smith-Lemli-Opitz syndrome. Please check out our website to learn more. We are grateful for every person who stands beside families like ours. Your compassion matters.
Kate Duren
President, Smith-Lemli-Opitz Foundation
smithlemliopitz.org
