Sanguine in Seattle

When your child is first diagnosed with a rare genetic syndrome, you feel overwhelmed with the steep learning curve and with the imperative to learn quickly so that you can take care of all of your child’s many needs. In the case of Smith-Lemli-Opitz syndrome, most physicians have never seen another child with the syndrome and know nothing about it. As a result, as a new parent, you can’t ask your pediatrician for guidance, even in the most vital areas, like feeding your newborn or tracking his growth. 

When your baby spends her early weeks in the NICU, you’re filled with fear as she fails to thrive. You read that 80% of babies with SLO die early on. Sometimes your baby’s physician tells you that your baby likely won’t make it to her first birthday. 

The isolation of your unexpected parenting journey sets in, along with increasing panic. You start to wonder if anyone in the world understands your life or could possibly offer comfort or relevant advice. 

 

If you’re lucky, you find the Smith-Lemli-Opitz Foundation. And then the cavalry of fellow parents arrives. The truth is, no one except another SLO parent “gets” it. We bring you in like a long-lost cousin, flooding you with photos of our children, welcoming you from all over the world, sharing experiences, and telling you what you need to know. You notice that our kids look like one another, and you fall in love with every new face, a love that supplants your earlier feelings of panic. Our shared experience bonds us for life like a second family.

 

Working for the Smith-Lemli-Opitz Foundation for the last 11 years has given my life purpose and meaning. It’s been exciting to help grow the Foundation into an international organization. We just wrapped our Family and Scientific Conferences in Seattle, our best conferences yet! Lucky for us, I know a fantastic MC and quizmaster, so I put that guy to work for us. 😍🧔🏻‍♂️ We took time to connect with one another, laugh about stories about our unusual families, and learned from all of the experts on Smith-Lemli-Opitz syndrome the Foundation brought together, and live-streamed to families all over the world. 

 

If you don’t have a kid with a rare disability, you might find it difficult to appreciate the bond that ties us to one another. The connection I share with the many lovely SLO families that I have met is one of the greatest gifts in my life. From this past week, I will remember the emotional four-way group hug with my fellow board members, the conversations with new families whom I already love, and all of the laughter that we shared together. Despite (or perhaps because of) the challenges we share, I’m still smiling over all of it. I have refilled my bank of connection, support, and love, and I’m already looking forward to our next conference in 2025!

Graduation Day

 

Today we’re filled with pride as we celebrate Jukie’s graduation! 👨🏻‍🦰🎓 As we’re still processing all our complex emotions about this time of transition, I’ll let Jukie’s wonderful teacher of the last 11 years speak about this momentous occasion. Here is an excerpt from the commencement address given to and for Jukie by his devoted teacher:

 

“Over the years, half of Jukie‘s life… I have watched Jukie grow, learn, and define himself. Throughout everything in this journey, Jukie has steadfastly remained Jukie. We have learned to work together, but everything is in negotiation. I love the way he advocates for himself and for what he wants. He is willing to discuss with you what you want, but do not take it as a given.

Often in this job, you learn as much as you teach. Jukie is the professor of patience, the maestro of minutiae, the department chair of feng shui. Without him, how would we know which way to cross our legs? How to wear our shirt sleeves fashionably? And why you might want to consider a shorter haircut?

 

But Jukie goes much deeper than that. Jukie is a very accurate reflection of your moods, your joy and your sadness. He is sensitive and caring. He is loving and honest. You will always know where you stand with Jukie.

 

Jukie is also incredibly smart. That does not mean he necessarily wants to learn what you are offering to teach, but that when he wants to know how to do something, he will figure it out. Jukie has forced me to become a better teacher, to think in new and creative ways, to become more sensitive myself, and to broaden my view of the world around me — and to know the precise positioning of my fingers to give the ultimate head squeeze.

 

Jukie, I am going to miss your sly smiles, your oh so Juk-ish sign language, and your laughs. Oh the laughs. 

 

And you, Andy, Kate, Geneva, and Truman, I thank all of you, for all of the trust you have put in us with your beloved Jukie. Your family’s love and support for him has never wavered and never will. Jukie is in great hands and I wish all of you the best. I hope the sequel to ‘Where’s Jukie?’ is titled something more like: ‘Jukie’s just Chilling.’

 

And now, let’s enjoy one last obsequious bow from Jukie!”

Fluency in Love

More than once over the last week in my hometown of Chicago, I was asked how long I’ve lived in California. Thirty one years ago, when I was younger than Geneva is now, I decided long-distance love was not enough for me. I wanted to start a life with my poet out west. This was the best decision I’ve ever made. 

 

Leaving my family and friends behind was hard, especially leaving my mom. In a selfless act of mama love, she encouraged me to follow my heart. “I see the way your eyes light up when you talk about Andy,” she had said. With that conversation, she gave me her blessing and even a gentle nudge to make the big move.

 

Mom came to visit us every chance she got. We took her on hikes, taught her to rollerblade, and introduced her to California wines. She enjoyed accompanying me to my favorite places, and she befriended my friends. And whenever I needed her, she flew to my side. Mom came for the births of our three kids. Vigorously rubbing my back all night long when I had back labor with Geneva, she helped me through the hours with a continuous stream of encouraging words. Three years later, Jukie came so fast that only Mom and Andy attended his birth. I didn’t panic because my mom was by my side. Her youthful energy and constancy were blessings to me. All those years ago, I never imagined my parents growing elderly. 

 

With time, Mom’s visits slowed down, and when Covid hit, they ended. As she was no longer able to come to me, now I go to her. With reversed roles, my mom now welcomes my visits and accepts my help.

 

No one tells you how difficult it is to watch your parents age. Watching this process from the other side of the country feels particularly heartbreaking. Maintaining our connection now that phone conversations have become so challenging feels nearly impossible. 

 

And so leading up to this trip, I was filled with uncertainty about how my Mom and I would connect. I discovered that love is the focus of every interaction now. I’m grateful to see her look of recognition and to hear her use the nickname she gave me when I was little, the one only she uses. I enjoy our ping pong games (her new favorite pastime) and delight in her beating me. I’m so happy to see her smile and hear her laughter, even when I don’t know exactly why we’re laughing. Joy is the point. When words start to disappear, love remains. Hugs are a language we all speak fluently.

Together we are Strong

 

“Being healthy is the crown that only the sick can see.”  Hasan Minhaj 

 

Health and access to health care are fundamental human rights. As a reminder not to take good health for granted, today we celebrate Rare Disease Day, an event that takes place every February 28th (or in leap years, February 29th, the rarest day of the year).

 

Rare Disease Day is so much more than a one-day event. It’s a rallying cry for a global movement of people around the world working toward health equity and access to diagnoses and treatments for people living with rare diseases. A disease is considered rare in the U.S which affects fewer than 200,000 people. The example I know best is Smith-Lemli-Opitz syndrome, the disorder my son Jukie was born with. 

 

Since its beginning 15 years ago, Rare Disease Day has helped to build a diverse International community of people with many differences in diagnoses and experiences, but united in purpose. Through sharing the experiences of people living with a rare disease, together we hope to change and improve the lives of 300 million people affected worldwide, as well as the lives of their families, caregivers, and supporters.

 

A day like today can help people like Jukie feel less disconnected from their local and national communities. Alone we are rare. Together we are strong. 

 

To learn more about Smith-Lemli-Opitz syndrome, visit Smith-Lemli-Opitz Foundation 

Jukie Joy

 

Today we celebrate our sweet Jukie’s 22nd birthday! Through his indefatigable spirit, Jukie teaches us all how to live: mindfully and in the moment. 

He invites us to notice the gentle wind rustling leaves in the trees, to listen to the sounds of birds calling one another. Wherever you are, Jukie says, be there fully. 

And through his endless expressions of joy, Jukie teaches how to love. Reach for the hands of your loved ones. Throw your arms around them when you see them. Delight in one another.

We are the lucky recipients of Jukie’s many gifts. And we are so grateful for his presence in our lives. 🧡