A Plea on Leap Day

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/

Diagonal Adventures

All year long, we look forward to the second week in February. We get to spend it in San Francisco, which I think is the just about best place to spend a few days seeing sights. As we’re a family of writers, attending the San Francisco Writers Conference has become a family affair. Andy presents poetry summits by day, and with a quick change of clothes, dazzles as host of the jazz and poetry performances. This year, Truman participated in his first conference workshop for young writers. Some of you may know that Truman has completed a draft of his first novel (titled “The Impossible Luna Jade”), so he had some context for the lessons he was learning about writing. I enjoyed watching Truman excitedly exchanging texts about his experience with his big sister, off at college. Next year, she will attend as a conference volunteer and as a recent college graduate with a degree in creative writing. 

Because we take a similar trip every Valentine’s Day week, I can use this week to assess my kids’ (and dog’s) growth, physical as well as emotional. For instance, I should be used to Truman’s deep voice by now, but I’m still startled when I hear him intonate a phrase like “Let me check my phone to see what restaurants are nearby.” And I should be used to his height, but it still surprises me when I notice that my walking buddy now looks me in the eye!

While the Writers Conference is a big draw for us, any time we spent not thinking about, talking about, or dreaming about writing, we spent exploring the City on foot. Remembering tiny Margot’s fatigue on long walks this time last year, I took along her puppy sling, imagining that she would need to be carried when her wee Frenchie legs grew tired. But never did she slow or even pause during our typically 15,000-step journeys. Evidently, our daily four-mile walks had prepared her well for a series of grand city adventures. She seemed to delight in every moment. And why not? SF is crawling with dogs, especially Frenchies, and people who love Frenchies. Margot received significant love from dozens of strangers. I think she thinks she is famous!  

As we set out each day, we had a general sense of where we were headed, but by now we know the City well enough to navigate without the use of maps, which could spoil the fun. Besides, we feel that the best discoveries are the surprises we happen upon, such as the time we looked up to see what Jukie found so interesting in the sky: it was the parrots of Telegraph Hill. While lost in Golden Gate Park, we stumbled upon Shakespeare Garden, a popular site for weddings. And have you visited The Musée Mécanique? Who knew there was a museum filled with antique working arcade games down at the wharf? 

We could walk so much and so far because Margot was full of energy, because my knees lasted longer than expected, and because Jukie used all of his best behavior, even though we know grueling marches can be hard on him. I couldn’t blame him when he repeatedly stood stock still in front of me during the long climb up to Nob Hill. I encouraged him with, “There’s a park at the top!” He shook his head “no.” “I’m not pushing you up this hill,” I said. He signed, “yes.” We compromised by pausing every so often to eat bananas. And when we finally did reach the top, we delighted in hearing the bells of Grace Cathedral, which rang for many minutes, and which prompted Jukie to stand and watch the bell towers. People out walking their dogs stopped and sat on benches to listen. I don’t know if there’s a more magical sound than its forty-four bell carillon. 

Because we were stopped so often by Margot’s new fans, on our long walks Jukie had opportunities to rest and to share affectionate hugs, gentle head bonks, and kisses with Truman and me. Sleeping in (thank you, blackout curtains) and diagonally in a double bed next to his brother, Jukie must have realized that we were on vacation. I think the whole family is ready for another hilly adventure!