Today on Leap Day, the rarest day of the year, we celebrate Rare Disease Day. On this day, we seek to advocate for and to raise awareness all around the world of the more than 7,000 rare diseases which typically receive little or no notice, as most people have never heard of them.
My son Jukie was born with Smith-Lemli-Opitz Syndrome (SLO). SLO affects between 1 in 20,000 to 1 in 60,000 individuals and is primarily seen in people with European ancestry, and rarely in Asian and African populations. People with SLO cannot metabolize cholesterol properly, which affects every system in their bodies. All have some degree of Intellectual Disability, most have ASD (autism), and researchers have found that heart, lung, and kidney defects are common among those with the syndrome. Most kids with SLO struggle with motor development, feeding issues, and behavior challenges. And saddest of all, many of our children die as SLO has a high mortality rate.
Children with disabilities are often defined by what they cannot do. My 19 year-old son Jukie, for instance, cannot speak. He can’t drive a car or take a date to a dance. He can’t go for a walk by himself or read a book. The list of “can’ts” seems endless; even all these years into his diagnosis, this list threatens to break my heart. But there’s another long list of things that Jukie can’t do on which I choose to focus.
As he is filled with love and innocence, Jukie cannot treat others unkindly. He greets everyone he encounters with the same sweetness. Jukie is everyone’s ally. He is incapable of bigotry, intolerance, or bullying.
Jukie is unimpressed with titles or prestige. Whether he’s meeting one of California’s U.S. Senators or Mikey Mouse at Disneyland, Jukie sees all as his equal. When we toured the White House years ago, Jukie assumed that roped off rooms were merely jungle-gym invitations to sit on antique chairs.
Jukie doesn’t experience sibling rivalry. Competition doesn’t exist for him, so he loves his brother and sister without the typical complexities which get in the way of sibling relationships. When he hears the voice of big sister Geneva (who lives thousands of miles away at college) on the phone, he waves and blows kisses. His smile tells me how much he loves her. When his little brother Truman gently redirects him many times a day, he accepts the correction even though Jukie is five years older and fifty pounds heavier. Jukie allows his little brother to play a big brother role and offers many regular, spontaneous hugs as evidence of his love and affection.
Jukie is filled with wonder, especially out in nature. He notices the tops of trees, morning dew on blades of grass, and just the force necessary to prune a neighbor’s fruit tree. He loves two-person bike rides (for he doesn’t pedal), greenbelt walks, and unknown vistas. Tie his running shoes tight, and he is ready for an adventure! Jukie has lessons to teach many of us about opening our eyes wide and filling the spacious “now” with his presence.
While we have learned many of those lessons from Jukie, every week on Facebook and via email I meet parents of children who have been newly diagnosed with Smith-Lemli-Opitz Syndrome. I am often the first person to disclose some of the difficult realities that I know well, sharing with parents truths that I wish I didn’t have to reveal. That’s why I donate my time as Director of Communications and Family Support for the Smith-Lemli-Opitz Foundation, so that I can connect the parents of new patients with other families spread all over the world and with the most knowledgeable specialists, and so I can raise money to fund research into this rare syndrome on Rare Disease Day.
If you are able, please consider helping people like Jukie, for the Foundation supports the thousands of individuals worldwide who have someone in their family as rare, as wonderful, and as deserving of care as is our beloved Jukie.
https://www.smithlemliopitz.org/donations/
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