Each year on the last day of February, more than 80 countries worldwide celebrate Rare Disease Day (the date falling on the rarest date on the calendar every leap year). We seek to raise awareness of the more than 7,000 rare diseases with the hope of improving treatment and access to medical care for millions of people — 30 million people in the U.S. alone, more than half of them children. A disease is considered rare when it affects fewer than 200,000 people.
As most of you know, my boy Jukie was born with one of these rare diseases, unknown to most, called Smith-Lemli-Opitz Syndrome. People with SLO cannot metabolize cholesterol as well as the rest of us do. And because cholesterol is essential to every cell in our bodies, SLO tends to impact individuals profoundly, causing a wide range of varying symptoms. Although there are several clinical research trials located across the country, no cure exists for Smith-Lemli-Opitz Syndrome.
Today I would like to tell you about Jukie. As my son cannot speak for himself, I have always felt a responsibility to speak for him. Although he was born with a rare “disease,” he is so much more than his diagnostic label: Jukie is a person first. He has more in common with you and I than not. He tunes in to the moods of others around him, often mirroring the tension or happiness of others. His laughter is contagious. He finds comfort in sitting close to me, often gently placing his bare foot on top of my bare foot. His feet are baby soft. Sometimes he bites his baby toe in anger. He takes my hand in a crowd. He feels compelled to run down every hill he encounters. He sleeps in, like most teenagers. We have to drag him out of bed for school.
Nevertheless, Jukie loves school, racing for the bus in the morning. Like other 17-year-old boys, he never stops eating. After he has finished his plate of food, he eats the rest of mine. He communicates with pictures and sign language, understands what we say, and not wanting to miss anything, pays extra close attention to our whispers. Jukie's got a great sense of humor, although we only know what he's laughing at half the time. He has a mischievous streak — like the way he locks the front door every time I pop out for just a moment, pausing long enough to enjoy a good giggle before letting me back inside.
Unmet expectations upset Jukie. Sometimes he likes things to be arranged in a certain order, or to be free of extraneous distractions, such as crumbs on a tabletop. Because he struggles to communicate and cannot negotiate, he experiences occasional rages, and such rages result in the most difficult times for Jukie and for those of us who care for him. Like any of us, he has trouble calming himself when he is upset. Unlike most of us, Jukie cannot transform his fears and anxieties into words. Sometimes he can’t tell or show us how that which he needs the most is painfully out of reach.
Life with Jukie is filled with sweetness. No one expresses joy so purely and abundantly as he. Life with Jukie is filled with sorrow. We worry about his health and about the years ahead should he outlive us. Sometimes I look up to find him staring at me; we lock eyes, and he doesn't blink. When I kiss or tickle him, he signs “more.” I always give him more.
Jukie wants what everyone wants. He wants love and affection. He wants kindness and acceptance. He wants human touch, he wants time with family and the friends who know him best, and he wants recognition on every day, perhaps especially on #RareDiseaseDay.
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