Rare Disease Day 2021

This is my son Jukie. Jukie was born with a genetic disorder called Smith-Lemli-Opitz Syndrome. SLO is one of more than 7,000 rare diseases which are recognized today on Rare Disease Day, always the last day of February each year. A rare disease is one which impacts fewer than 200,000 individuals in the U.S. On this day, we come together to raise awareness of such diseases and show our support for one another. 

Most people have never heard of Smith-Lemli-Opitz Syndrome. My husband Andy and I had never heard of it before receiving Jukie’s diagnosis when he was 10 months old. We didn’t know that we were both carriers of the gene mutations that cause SLO in one in four pregnancies for couples like us. Twenty years later, we know more about SLO than most physicians. There’s a steep learning curve in the beginning for parents like us, but we loved our little guy so much that we had to learn quickly to figure out how we could best support him. 

In a few words, SLO is a metabolic condition involving cholesterol. Many of his challenges have resulted from his difficulty in metabolizing cholesterol the way the rest of us do. We give him supplemental cholesterol every day, but the SLO metabolic error causes (and caused) much damage before birth. One of the NIH research trials Jukie has participated in reviewed how cholesterol could better reach the brain where people with SLO really need it. Jukie has participated in many medical trials, and has undergone multiple spinal taps so doctors could better understand the blood-brain barrier, but after all these years, researchers still haven’t found a way to help his brain. 

SLO causes a wide range of challenges, and every individual is unique. Sadly, because every organ in our bodies depends on cholesterol, many children with SLO die at or before birth. Andy and I have had four pregnancy losses. We’re so grateful we didn’t lose Jukie. 

On this day, we celebrate Jukie and focus on his many strengths and gifts. 

Jukie lives in the moment; his example encourages the rest of us to do the same. He stops walking to look up at beautiful skies. He pauses to listen to the whoosh of the wind. Sometimes he looks intently into our eyes and touches our face. He shows us that life can slow, and we can benefit from a long pause. 

Jukie communicates with PECS, sign language, and an iPad, as well as with smiles, laughter, and love. Jukie demonstrates that the most important messages can be conveyed with a look or a touch.  

Jukie’s joy is front and center. He seeks and finds joy throughout the day. He spreads joy with his infectious laughter and impish sense of humor. In addition to his sometimes plaintive yodeling, Jukie fills our home and our hearts with joy. We are grateful for everything he has taught us, and we invite you to join us in celebrating him on this special day.