Shining a light on Smith-Magenis syndrome
Each year, on 17 November, a community comes together to promote International Smith-Magenis Syndrome Awareness Day. It is a day dedicated to spreading education and understanding of Smith-Magenis Syndrome (SMS) around the world. Kayla Beecher, mom to Kaydence, who has SMS, gives us a glimpse of their life with SMS
Written by Kayla Beecher
A puzzle solved
Smith-Magenis syndrome is a phrase we had never heard until the spring of 2021. Up until that point, we fought tirelessly to find out what was wrong with Kaydence. When our genetics specialist finally gave us that answer—after six long years—it was like a breath of fresh air and a punch in the gut at the same time.
Smith-Magenis Syndrome (SMS) is a rare neurobehavioral disorder characterised by a recognisable pattern of physical, behavioural and developmental features. It is caused by particular genetic changes on chromosomal region 17p11.2, which contains the gene RAI1.
A life with a Smith-Magenis syndrome child or sibling is anything but normal. It comes with triumphant wins, with milestones or exciting events, and devastating lows, when reality checks in—when yet another test is needed or yet another specialist is added to the already large team caring for their health.
Kaydence is very fortunate to live in our community. With big, open arms, it has given her every opportunity that neurotypical children have. It’s once we get out of this comfort zone and visit places where people don’t know us that we’re reminded how different our family is and how unforgiving strangers can be.
Cooking with Kaydence
Most recently Kaydence had a really good and exciting day. She took part in an event organised by 4-H (a US-based network of youth organisations) and did a food and nutrition project. She learned about the food groups, nutrients and how to prepare her dish, and was interviewed on her knowledge of the project. It was a struggle to learn the material to the best of her abilities, but she had the most wonderful time in the kitchen and learned so much!
This was something she really wanted to do, and she was happy and excited to go to meetings and interact with others. She got to help create her own recipe which gave her creative freedom and ownership of the project. We’re very used to having to push her to complete projects and homework if it’s something she’s not engaged or interested in—this was such a different experience. Not having a single outburst or fit is nearly unheard of when we’re trying to get her to complete something or see something through.
She did so well on the day of the competition and was genuinely so excited. She presented her dish and completed her interview on her own without a single meltdown or tear if she was unsure about an answer. She happily served others the food she made and interacted appropriately with her peers.
We’re incredibly proud of her and so thankful for the volunteers, teachers, community members, doctors, professionals and everyone else who makes her milestones and accomplishments so sweet. It truly takes a village to raise children, but for Kaydence it takes a whole lot more!
Although Kaydence didn’t start taking until she was nearly five, lacks social boundaries (she gives the BEST hugs and kisses), struggles to regulate her emotions and is always just a bit behind her peers, she is living a fulfilling life and every day we are amazed by her determination and joyful, loving spirit. If anything, Kaydence has taught us so much more than we will ever be able to teach her.
Since her diagnosis, we have attended a virtual and in-person conference through PRISMS where we found a wealth of priceless information, support and, most of all, hope! If it wasn’t for this amazing organisation, I truly don’t know where we would be today. We are forever indebted to PRISMS—they are such a valuable resource. We’ve learned more about her syndrome, how to adjust our expectations for the future, how to support her and how to live the most normal life possible for her and her siblings.
PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) is a 501c3 organisation dedicated to providing information and support to families of persons with Smith-Magenis syndrome, sponsoring research and fostering partnerships with professionals to increase awareness and understanding of SMS.
For more information about Smith-Magenis syndrome, go to www.prisms.org