What I Want You to Know about my Son

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.

Distant Hearts, Distant Heartache

And we wept that one so lovely should have a life so brief.

~ William Cullen Bryant

Sixteen years ago, when Jukie was diagnosed with Smith-Lemli-Opitz Syndrome just shy of his first birthday, I had never heard of SLO. Not until his first visit several years later to the National Institutes of Health 3,000 miles away did I have the opportunity to meet another child with Jukie’s syndrome. At our first meeting, no one had to tell me this child shared Jukie’s diagnosis, for he looked as though he were Jukie’s baby brother, with his tiny upturned nose, cute, short thumbs, and adorable second and third toes, joined together in the shape of a heart. And the smile — no child smiles brighter than a kid with SLO. I had only just met this toddler, yet he raised his arms for me to pick him up; I was in love. I wanted to meet every family out there raising a child with SLO. 

All these years later, I now know hundreds of families with children with SLO. We  message and talk daily. I have friends all over Europe, especially the UK and Ireland, Australia, New Zealand, South America, and South Africa. We function like a large, extended international family. When language presents a barrier, we communicate with Google Translate, helping each other to manage our complicated lives and offer support, encouragement, and humor. My friends’ children feel like nieces and nephews. We rejoice together in every victory, no matter how small. And we know that no victory is small in our world; our kids are fighters. Some kids spend years learning to walk with countless hours of occupational and physical therapy helping along the way. I know one fierce girl who took her first step at 8 years of age. Now she occasionally pushes people out of her way. It’s not unusual for a child with SLO to begin speaking in elementary school. I know a young man whose mother feared he might never talk, and now drops the occasional F bomb…just like any other 19-year-old. I feel great admiration for people with SLO, for their fighting spirits, their impish humor, and their loving natures. And their parents are pretty incredible too. We’re spread out all over the world, bonded through the same twist of genetic fate. 

Sadly, treatment for Smith-Lemli-Opitz Syndrome remains inadequate, and the mortality rate is high. Over the last couple weeks, we have mourned the loss of several children and a young adult with SLO. Tonight, I’m heartbroken to learn of the death of an angelic two-year-old boy who captured my heart when I spent a few days with him last summer. I’m filled with sadness for his family, feeling helpless and so far away. I wish I could put my arms around all of our grieving families. As I can’t travel to all of you, I want to let you know that the virtual arms of hundreds of parents envelop you and share your grief from all corners of the globe. You all inspire me every single day. I love you guys so much.