Loving someone rare


What is Angelman Syndrome?

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. Angelman syndrome is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

When our daughter was diagnosed with Angelman Syndrome, we were quickly thrust into a new community, a new world, of life with a rare disease. 

This happened in January, so almost immediately we learned that February 15th is International Angelman Day. Our friends and family, eager to rally around us, wanted to honor our girl. Raising awareness made sense, but I had a hard time finding myself in this day. It wasn’t a holiday; I definitely didn’t feel like celebrating. And I wasn’t even ready to start waving an awareness banner and promote research; I could barely talk about the whole situation at all. 

Other Angelman families also invited us to an International Angelman Day picnic. I remember talking with another mom of a newly-diagnosed child about how nervous we both were to go meet other families; to meet older kids who were like ours. It was a glimpse of the future I wasn’t ready to see. 

But in the midst of this, our people did something amazing. A friend secretly invited our community to wear blue, our rare disease’s chosen color, on February 15th. That weekend, we were flooded with hashtags and pictures of friends & family wearing blue to honor our girl.

Blue courage

I really wasn’t ready for it. I may have even worn red. And yet—it was the best way our people could love us in that moment. The combination of acknowledgment, love and presence was what I needed, even if I didn’t feel ready to deal with a rare disease. Our friends and family helped pull me up off the ground. They gave me courage to love our daughter well.

Two years later, International Angelman Day is here again. And this time, I think I’m ready to face it. This year WE invited our friends & family to wear blue for Ava. We get to spread awareness and encourage research that works toward a better life and one day, maybe a cure. And we get to celebrate—not a disease, but my daughter, who lights up every room she enters in spite of all her challenges. 

This year, the Orlando Eye, Niagara Falls and the skyline of Chicago are all lighting up blue on February 15th to raise awareness and promote research. You can also follow the day here.

I often see our friends and family struggle to know how to best help us. Raising a child with a rare disease is complicated. We try to find ways to involve everyone who wants to help, but it’s harder than it might seem. Things as simple as wearing a color or hashtagging a rare disease may seem like small ways to show support—but be assured that things like this can fill a struggling friend with encouragement. So can a quick text, or an invite to go out—even if they will likely need to say no. 

International Angelman Day hashtags you can follow or use:






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