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.