Smith-Magenis Syndrome: a diagnosis, a climb, and how to tell the world
by Connie Bessette
Good morning. My brain is excited. My heart is full. My energy is great. My 75-year-old limbs and joints feel strong, and not anything like I might have thought it would be decades ago.
When I met with my doctor yesterday morning, I gave her this report and then my disclaimer, “I’m sure it won’t last.” Given that I am more of a “glass half full” person, I was surprised at my comment. I imagine I must prepare myself (more on that later).
To my surprise, my doctor said NO NO! It most certainly can last; we are conditioned to think that way. Good. Amazing. Wonderful. Healthy. Happy. Are temporary. They do not last. These are words attached to someone else. Not me.
Hmmmm.
I did an exhale, and I paused!! I love love my doctor. She is compassionate, positive, and brilliant. And even better, she gets me. She said, “Connie, you have done the work; you are where you are supposed to be.”
Yikes, I had stars floating on puffy white clouds just above my head.
I really will be ready to climb Mt. Kilimanjaro in less than 2 months. My dream was born just over one year ago.
I imagined myself with my hiking poles and seasoned boots putting one foot in front of the next, conquering oxygen debt, and tiring days while living hours and hours of the majesty of high peaks kissing puffy clouds and the company of many other hikers who love the ground, and trees and wildlife and weather while sharing energy and emotion. And then enjoying a rest in a tent pitched by a porter who is like me and not like me at all in the way he worships, works, and celebrates each day.
And then I thought about the why. WHY am I doing this climb? Jonathan. SMS. His chromosomal deletion that caused me fears and worries that defy explanation. The days that I thought I might not survive. A girl is born with the ability to bear a child and therefore care for that child. There were many days that I questioned that most basic ability. I did not know how to teach him. How to show him to accept my love and nurturing. I did not know how to keep him safe. I did not know how to make him sleep.
Until.
He was 26 years old and diagnosed with Smith-Magenis Syndrome. A deletion of chromosome 17p.11.2. The diagnosis/syndrome was brand new. NO one knew. It was not my fault. I was no longer alone. And next I met other moms and dads. “Is your child so cute and engaging that people in the grocery store are taken by him? My daughter only sleeps 3 hours; how long does your child sleep on average? Does your son yell obscenities and rage?
With medication, aging, and a CPAP machine, Jonathan now sleeps through the night, and his days are wrapped in kindness, curiosity, and amazing patience.
This hike, on this epic mountain, is for all those families out there who do not know, just like I did not know for 26 years. Now, a family who has questions can ask for genetic testing.
Last week another parent of an SMS child joined our climb. He came up with this headline for all of us climbers to share with the world.
14 Climbers. 19,341 Feet. 300,000 People Still Undiagnosed.
Help me spread the word. Tell someone who may have questions about their son or daughter with special needs. Tell a doctor or a teacher. Give someone my Substack. Or guide them to: www.prisms.org
Don’t forget to exhale and pause. And know that yes, good health, joy, and freedom from constant worry can indeed last and be real. We are all entitled to happiness.