A Spotlight on Smith-Magenis Syndrome

Parenting comes with endless amounts of questions no matter how much you prepare for it. For some Drew4families, finding out your child was born with a rare disease only adds more questions to the list. The main objective of Rare Disease Day is to raise awareness among the general public and decision makers about rare diseases and their impact on patients’ lives. At our Sussex Campus, our friend Drew has taught us on a daily basis, what it means to love and care for a child born with a rare disease. We asked his mother, Sarah, to share his story with you.

Drew hospital 2015

Hi, I’m Sarah Kemper.  Mother of Drew (3) and Emma (2) who have been part of the Momentum – Sussex family since 2014.  I am honored to write this post about a very rare genetic disorder that has been part of our family, also since 2014.  I write this from a mothers perspective and I thank you in advance for taking the time to read on and help spread awareness for Smith-Magenis Syndrome.Family July 2017

Drew was diagnosed with Smith-Magenis Syndrome when he was 10 days old.  At that time, we were in shock and had no idea what that meant for us and for the life of our son, except that it would be on a different trajectory than what we had planned.  The initial few months post-diagnosis, we engulfed ourselves in researching what SMS was in the hopes of understanding what was to come.  We realized quickly that there was such a wide spectrum of the disease, and although it was good to gain some background knowledge, we did not want it to define Drew and what he was capable of before he could show us.

Smith-Magenis Syndrome (SMS) is a rare genetic disorder, occurring in approximately 1 in 25,000 births.  Itdrew8 is a non-familial chromosomal disorder characterized by a recognizable pattern of physical, behavioral and developmental features and is the result of a missing piece of genetic material in chromosome 17, referred to as deletion 17p11.2.

Some of the common features of SMS include:

  • Sleep disturbances and daytime sleepiness due to a reverse circadian rhythm of melatonin production
    • At about 18-24 months, we began seeing many more night time awakenings and Drew fighting sleepiness all throughout the day.  Even now, we might find him asleep when we thought he was playing or he dozes off eating lunch because he is too tired to make it to nap time.
      Drew sleeping
  • Low muscle tone
  • Feeding issues in infants
    • At 6 months old, Drew was hospitalized for 17 days due to numerous respiratory viruses along with pneumonia.  A couple months later he was still on oxygen when he slept and we found out his lungs weren’t healing likely due to aspiration.  So at about 10 months old, we were back at Children’s getting his G-tube placed
  • Developmental delays
  • Varying degrees of cognitive impairment
  • Speech delays
    • There is so much going on in that head of his that he can’t often communicate to us.  We can say that Drew knows his colors, numbers and letters of the alphabet though.  He also memorizes spelling from activities, books or interactive toys
  • Decreased sensitivity to paindrew2

Some of the common neurobehavioral features include:

  • Endearing and loving personalities
  • Hyperactivity/ADD
  • Sudden mood changes and/or explosive outbursts
  • Prolonged tantrums
  • Self-injurious behaviorsDrew thinking

DrewWhat does Smith-Magenis mean to us? It means learning how to use, clean and change out a G-tube. It means learning sign-language and other methods of communication. It means waiting until your child is two before seeing him walk, and even at three and a half he is still wearing braces around his feet and ankles to help with support. It means navigating day to day activities while constantly re-directing the best we can when we are at the cusp or in the middle of a major melt-down.  It means being awakened a lot at night and usually for good at around 4:30a.  It means walking on egg-shells every day as you never know what random toy, comment or directional turn in a store will set him off.  It also means endless hugs, the best smiles and giggles possible and such a sweet soul of a boy who we get to call our son.

SMS is a tough disease.  Tough on Drew.  Tough on us as his parents, Maddie as his half-sister and Emma as drew10his sister.  Tough on his wonderful caregivers, teachers, therapists and doctors.  We have been very fortunate to have landed with a team of great doctors at Children’s Hospital of Wisconsin and a great team of teachers and caregivers at Momentum.  They all love seeing him learn andDrew2 grow just as much as we do.  We are truly blessed with the support of so many around us. We are constantly encouraged by the special bonds and relationships formed by everyone who works with Drew. We enjoy seeing that they truly want him to succeed. With that being said, however, there have only been 2 of the 40+ doctors, therapists and teachers who have helped and come in contact with Drew, who have ever even heard of Smith-Magenis. So, thank you for helping us spread awareness.

To learn more go to prisms.org or smsresearchfoundation.com