by Analyssa Tallas
The doctor called and said, ‘this is what she has, it’s extremely rare, here’s a website, please give us a call if you have questions’ .– A mother recounts the brief phone call she received when she learned of her daughter’s diagnosis of Smith Magenis Syndrome. At the time, this mother did not realize the diagnosis was life-changing.
Smith Magenis Syndrome is a rare condition, caused by a deletion of important genetic material on chromosome 17. Individuals with Smith Magenis Syndrome typically have difficulty feeding and failure to thrive as infants, as well as intellectual disability, speech difficulty, disrupted sleep patterns, low muscle tone, decreased sensitivity to pain, and self-injurious behaviors. They are described as having affectionate and endearing personalities, excellent long-term memory for events, places, or names, and overall a funny sense of humor. It is estimated that 1 in every 15,000 to 1 in every 25,000 people have Smith Magenis Syndrome, but this estimate does not represent individuals who have not been diagnosed or have been misdiagnosed.
Eleven years ago, Sophi’s family welcomed her into the world. Her mother, Jess, instinctively knew something was wrong when Sophi was born, but had been falsely reassured that her daughter was fine. As an infant, Sophi had difficulty eating, severe acid reflux, recurrent ear infections, a urinary tract infection that spread to her kidneys, low muscle tone, and was missing her developmental milestones. After a full year of physical therapy with minimal progress, a physical therapist suggested the family pursue genetic testing. When Sophi was 18 months of age, Jess answered a phone call from Sophi’s doctor who briefly informed her that genetic testing revealed Sophi has Smith Magenis Syndrome. This short and simply unhelpful phone call left Jess feeling relieved that she finally had an explanation for her daughter’s health complications, but also terrified by the rarity of this condition. Now that there was a diagnosis, what were the next steps for her daughter? What impact would this have on her daughter’s future? Her family’s future? Jess, feeling scared, stressed, and lost, soon realized Sophi would be dependent on others for the rest of her life.
Fast forward to present day, Sophi is described as a loving child who has a quirky sense of humor, an undeniable passion for all the Mario videogames, and the ability to brighten the day of everyone she sees. She is outgoing and active in school where she receives occupational therapy as well as speech therapy. Like other siblings, Sophi and her big sister ‘push each other’s buttons’, most likely an expression of the unique bond that only sisters share. In essence, Sophi makes everyone around her feel extremely special.
Recounting the past eleven years of her life, Sophi’s mom is sure of many things. First, your intuition is something that you should always trust, even if medical professionals provide false reassurance. Second, Smith Magenis Syndrome is rare, but there are other families with the same diagnosis and you are not alone. Third, learning your child has a rare condition will change your life and it will be challenging, but you will learn how to adjust and readjust. And fourth, you must become an advocate for your children, because nobody else can do that better than you can. Jess beautifully described her journey in life thus far and says, “It’s not the end of the world, it’s just a change. I feel blessed to have my daughters in my life”.
As Smith Magenis Syndrome is caused by a deletion of genetic material on chromosome 17, we recognize World Smith Magenis Syndrome Awareness Day on November 17th. For information on how to become involved in raising awareness of Smith Magenis Syndrome or for resources for patients, families, and providers please visit:
Parents and Researchers Interested in Smith Magenis Syndrome https://www.prisms.org
Smith Magenis Syndrome Research Foundation https://www.smsresearchfoundation.org