Meet Dylan

Yet, on the eve of Halloween, Amber began to feel ill.  She developed a high fever and was rushed to the hospital with a severe infection that developed from the major surgery.  For the next few weeks, Amber was separated from Dylan and treated at the hospital for sepsis, also a life-threatening condition.  After her second discharge, symptoms returned and Amber ended up spending the first few months of her baby’s life fighting this stubborn infection.  Once she finally was able to beat the illness, Amber began to notice subtle abnormalities in Dylan’s development.  He didn’t seem to be meeting all of the milestones like his sister did, which worried his mother.  However, given how advanced her daughter was, Amber tried to relax and believe Dylan was perhaps on a bit of a slower timeline.  After all, the pediatrician wasn’t concerned so why borrow trouble?  However, for peace-of-mind, Amber decided to request a formal developmental evaluation at Dylan’s six-month well-check to make sure everything was okay.  

Shortly thereafter, Amber and Jordan received the results of their son’s formal evaluation and the scores were nothing short of alarming.  In four out of five areas measured, Dylan fell into the “significantly delayed” range, and was “moderately delayed” in the other category.  Then began the cascade of further testing, which included a sedated MRI, a panel of metabolic bloodwork, standard genetic testing, countless appointments with specialists, therapy evaluations, and several other medical procedures in which would change this family’s life forever.  

Over the course of the next year, the test results slowly trickled in, and to everyone’s surprise, Dylan’s metabolic functioning and brain anatomy appeared to be normal.  His MRI showed no evidence of a birth injury, which was strongly suspected due to his complicated birth.  Standard genetic testing in utero and a chromosomal microarray came back normal, as well.  What could be causing Dylan’s extreme developmental delays?  There was one remaining test for rare diseases that hadn’t yet been conducted, so Amber and Jordan decided to proceed forward despite it’s astronomically high cost and less than thirty percent chance for a confirmed diagnosis.  

While waiting for the outcome of the recommended DNA whole-exome sequencing, Dylan was enrolled in six to eight sessions of intensive therapies a week – occupational, physical, speech, feeding, and developmental.  Although his progress was very slow, Dylan continued to work toward meeting the basic milestones of infancy.  At eleven months of age, he experienced his first surgical procedures: a myringotomy, adenoidectomy, frenectomy, and frenum release.  Due to an anesthesia reaction, Dylan had to be admitted to the hospital for observation, but otherwise recovered well from these procedures.  However, he continued to suffer from major sleep disturbances at night and developed a mysterious breathing pattern called stridor, which baffled his original ENT doctor.  *They later found out that this condition was due to a rare birth defect, called a laryngeal cleft, which is a very serious condition. 

Meanwhile, on June 5th, 2016, while Dylan was in therapy, Amber received shocking news via phone from the University of North Carolina geneticist who ordered the whole-exome sequencing.  It had been discovered that Dylan had a substitution of a guanine base for an adenine base on the first exon of the MED13L gene, which was termed a “pathogenic” mutation.  The infinitesimally tiny error stops an essential protein from being made on one copy of the gene and it is most likely responsible for all of Dylan’s severe delays/disabilities.  This mutation appeared to be spontaneous or “de novo,” meaning no traces were found in the DNA of both Amber and Jordan.  Even more shocking, at the time there were only 13 affected people in the world on record, so there has been minimal research conducted on this extremely rare syndrome, including no biomedical treatment, overall prognosis, life expectancy, or cure.

Taking in that kind of news was of course difficult for Amber and Jordan to process, but having a diagnosis for Dylan and explanation behind his symptoms was a big relief.  Yet, after getting in touch with several members of the growing MED13L family, it appears that Dylan has one of the more severe cases, which has been unfortunate.  Since his diagnosis, he has been hospitalized several times and deemed “medically fragile,” requiring daily nursing intervention in order to thrive.  It was also discovered through an exploratory bronchoscopy that Dylan had a a laryngeal cleft, which fuses the trachea with the esophagus.  Thankfully, Dylan’s cleft was borderline mild to moderate, while a severe defect is incompatible with life.  In January of 2017, Dylan’s condition was surgically repaired at Duke University Hospital and a gastronomy tube was inserted to ensure adequate nutrition and delivery of medication. His cleft will need monitoring for the rest of his life, as it can be prone to collapse due to his laryngomalacia.    

Dylan struggles most with both receptive and expressive language.  Due to his specific genetic mutation, Dylan’s cognitive functioning is also strongly impacted, which causes severe to profound intellectual disability.  Although his condition has created immense grief, stress, and difficulty in maintaining somewhat of a normal life, Dylan’s family loves him dearly, accepts him, and believes he brings being “special” to the highest level.  His parents marvel at how joyful, giggly, and content he often can be despite his major struggles in life. They think Dylan can serve as a role model for others to follow, especially when it comes to his ability to find happiness and light, even while in a dark place.  Dylan has also taught his family to learn the true meaning of unconditional love and he has changed the way they perceive the world and interact with people for the better.  He also encourages people to be grateful for the blessings they have and has brought out their goodness.