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A Rare Disease Warrior

By: Kayle Jansson, Mom of Embry

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.

Our journey with the rare RAI1 gene mutation, Smith-Magenis Syndrome diagnosis, began in the middle of the pandemic in August of 2020.

This was our “ah-ha moment” for our son, Embry, who carried an autism diagnosis like his brother since the age of 22 months old. But so many things did not fit the wide and broad autism spectrum diagnosis for Embry. The medical issues had us seeking for more answers in the way of an endocrinologist ruling out a Cushings Disease diagnosis like I had at the time. But our journey really didn’t begin that summer of 2020, it began long before that, as the signs of Smith-Magenis Syndrome were present into infancy. Like the way Embry never developed speech, and the odd behaviors his two older brothers never did. Oh and the fact that the child never ever slept… like ever! But there was a great comfort in his presence as the perils of dealing with his siblings, one was a newly diagnosed autistic and the other a young struggling teen. Embry was the calm in the chaos. Embry really was our little bundle of joy! No really, he just exuded joy!

Embry is quiet engaging and full of energy. He has a vibrancy for life. He has taught himself many songs on the piano, he went viral many times on Tik Tok for his spirit, encouragement and ability to overcome the odds. He inspires so many with his involvement in sports, and abilities with his “can do attitude”. He has enjoyed and excelled at many sports such as basketball, baseball, soccer, skateboarding, scootering, bowling, golfing, mini golfing, swimming, MMA, biking, hiking, kayaking and tandem surfing. He has amazed many with his skills from preschool age of self-taught card shuffling, and bridging, to solving rubix cubes, and having zero fear for the most bone chilling rollercoasters at our local theme parks!

Embry does not struggle with learning so much. He is extremely smart and has very easy communicative skills with just about any adult. His mind keeps surprising us with his amazing way of seeing the world, and saying the darndest things that puts anyone in ear shot into a stomach grabbing belly laugh.

We never try and tell Embry “no”. Giving Embry every opportunity he can to experience the world just like everyone else is his right as a human in this world. We try and never tell him he is disabled and give him responsibilities and chores just like another kid, with reasonable expectations of course. Embry deserves a lot of patience and a lot of love as I know he’s given it to all of us as we’ve navigated this strange but beautiful syndrome called SMS with him.

Embry is not without his trials. It’s so painful to watch him suffer with the things he just can’t control. He has been in therapy since 9 months old. He is a fighter. He has overcome so much and clawed his way to get to where he is today. With his relentless tenacity, there is nothing this kid can’t do if he puts his mind and heart into it.

To some, he might be seen as rare or unusual for SMS, but to us he is just Embry. Our rare warrior.

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