Meet Dylan

Meet Dylan

We call him our little “Joy Boy” because he is exactly that. Dylan’s smile can truly light up a room and his funny little “quarks” can turn any frown upside down. His affectionate hugs can warm up the coldest of hearts. His deep giggles can soften anyone up and make everyone laugh.

Our “Darling Dilly” has the very best of superpowers…He brings out LOVE everywhere he goes.

Dylan’s Story

Before he was even born, Dylan began taking his parents, Amber and Jordan Petersen, on an extraordinary path. Little did this family know what kind of “adventure” they were in for! The road with Dylan has turned out to be anything but predictable, with many challenging twists and unexpected turns. Throughout this journey, Dylan and his family have experienced their fair share of peaks and valleys. Yet, on this pathway, there have been breathtaking views of unique terrain in which many will never have the opportunity to experience.

It hasn’t been a trip that his family ever imagined taking, but despite it’s difficulties, they wouldn’t take back this unusual experience for the world. The journey began with Dylan taking his mom on an unexpected and suspenseful ride through pregnancy. Shortly after Amber became pregnant with him, it was discovered that she developed a rare condition called placenta previa, which takes place when the baby’s placenta covers the cervix – the outlet of the uterus.  This condition can be life threatening to both the mother and child, as placental abruption, severe hemorrhage, and premature birth are common complications.  At that point, no one was worried since there was around a ninety-seven percent chance that the placenta would move away from the cervix before delivery.  However, as Amber’s pregnancy progressed, weekly scans showed that the placenta wouldn’t budge so a mandatory pre-term c-section was scheduled in order to ensure safety to both mother and baby.  On the morning of October 26th, 2015, baby Dylan came into the world after a complicated surgery that involved the use of forceps.  Thankfully, he showed minimal signs of stress other than facial bruising, so his parents were overjoyed to be “out of the woods” with a seemingly healthy baby and were sent home five days later to begin a happy new life together.  

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. 

Dylan’s Blessings

There’s no doubt that any diagnosis involving disabilities can be extremely painful for a person to process. As Dylan’s mother, I believe we are entitled to that grief, as having a child like my son involves many losses in which we will never get to experience. However, compared to going down the typical path of life with my daughter, I have found the atypical journey with my son to be LOADED with more blessings than I could ever include here. These are a few that I’ve written down over time. Although there’s a vast range of ability levels in those with MED13L syndrome, if your child happens to be nonverbal and severely intellectually impacted like my son, you may find that this kind of life can still be wonderful too…

My Family is Blessed Because

  • Our child is able to bring out the best in people 

  • He motivates me to become a better mother, Jordan to be an involved father, and Brooklyn to be the best sister she can be!

  • We have learned the TRUE meaning of empathy, compassion, kindness, and love.

  • We’ve found excitement in the simple things in life just by watching Dylan interact with the world, such as…delightfully popping bubbles and squeezing Orbeez balls with amazement.  Bouncing on his trampoline while watching his favorite shows for hours. Watching his “fan friend” whirl around and smiling at it with wonder. Playing “peek-a-boo” with me until his tummy hurts from giggling so much. Rolling a ball back and forth and playing a fun game of “catch and fetch.” Gazing at the gorgeous landscapes on the TV’s screensaver with fascination. Smiling and cooing at trees as he watches their sun-glistened leaves blow gently in the wind. Endlessly laughing and squealing in delight while watching the clothes wash and dry in the machine.  Hugging his mommy, daddy, and sister like a little koala bear until he’s too weak to keep holding on!
More possible “perks” in life with Dylan:
  • Jordan and I will never have to face the sadness of the “empty nest syndrome.” We will always have our sweet son by our side.

  • I’ll always be his “first lady” and I won’t have to share him with anyone other than his sister! 🙂

  • He will likely never “tell us off” or say that we screwed up as his parents

  • He will *probably* never lie or manipulate…and if he does, it would undoubtedly be over something innocent.

  • We won’t have to worry about him teasing or bullying others – big fat NOPE!!

  • Brooklyn’s kids will have the coolest “Uncle Dilly” ever, who will likely be the guy who will get on the floor and happily play all day long with his nieces and nephews.

  • We will never have to worry about him sneaking out of the house, breaking the law, drinking and driving, or even just driving!

  • He’ll never become a drug addict – phew!

  • We get to enjoy the “VIP” treatment and opportunity to park in front-row handicapped spaces when he’s with us, not to mention free fast passes and national park tickets, good movie theater seats, better access to subway seats, and even roomy bathroom stalls – haha.

  • He won’t care what we wear or what we look like.

  • Better yet, he lets me dress him however I want!

  • He will just love us for who we are and won’t wish we were any different.

  • We will always have our “baby boy” who gives us endless cuddles, smiles, laughs, and the most beautiful unconditional love.

  • We experience a super-charged level of thrill when Dylan reaches new milestones or learns new things!
  • We get to connect with so many amazing people and have adopted them into our growing family, such as: the MED13L crew, Dylan’s caregivers and nurses, his teachers and other school staff, the surrounding special needs community, doctors, therapists, case workers, special needs advocates, caring followers, and even the clinic receptionists/billing coordinators!
  • Dylan gets to take part in meaningful research that will surely impact current and future generations to come.
  • Unlimited opportunities to learn about the infinite intricacies of the human body and the chance to converse with some of the most brilliant minds in the world of medicine.
  • I get to go back to work, continue my career, and live out my destiny as a special education teacher…but I’ll be responsible for only one student – and he’s my favorite exceptional learner ever!
  • Our family is learning sign language!
  • We’ll never will have to worry about him joining the military or fighting in wars
  • We won’t have to worry about him falling into the dark hole of social media
  • Minimal to no fighting with siblings!

And the list goes on…


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