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July Calendar Kid: Rare, progressive disease is no match for Shailyn and her CHoR team
July 20, 2020
July Calendar Kid: Rare, progressive disease is no match for Shailyn and her CHoR team

    Meet Shailyn: A patient who is fighting a rare, progressive disease

    Shailyn has been making friends at CHoR for nearly three years. The brave, sassy, smart and social 8-year-old was diagnosed with MPS VI in November 2017. Also called Maroteaux-Lamy Syndrome after the two doctors who first described it, MPS VI is a progressive disease characterized by a missing enzyme that impacts multiple systems in the body and causes tissues and organs to become inflamed or scarred. Because of the rarity of her condition, Shailyn was immediately transferred to CHoR for care coordination.

    A team of experts against MPS VI

    Shailyn’s comprehensive care team includes general pediatrics, genetic counseling, cardiology, pulmonology, neurology, ophthalmology, orthopaedics and ENT. Some appointments are annual, while others are every six months to monitor the disease’s progression and its impact on her body. Our infusion team, however, gets the pleasure of seeing Shailyn weekly – every Thursday to be exact.

    There’s no cure for MPS VI, but it can be managed with weekly infusions of Naglazyme, an enzyme replacement therapy. Naglazyme provides a genetically-engineered version of the body’s missing enzyme to help break down complex carbohydrates called glycosaminoglycans that could otherwise build up and cause the inflammation or scarring. This helps to mitigate breathing problems, heart problems, abnormal bone structure, and vision or hearing loss. It also gives Shailyn the energy and endurance she needs to go about her daily routines.

    "We first met Shailyn in April 2018 when the genetics team brought her and her parents into the infusion center to meet our team. She seemed nervous and shy that first day, but boy did that change!"

    Donna Palmer, pediatric ambulatory care clinical coordinator and infusion nurse

    Weekly infusions = fun with new friends

    Shailyn has had plenty of time to befriend the infusion team. Her weekly treatment typically takes about five hours, including port access which involves placing the infusion needle into an implanted device allowing easy access to a vein to administer the medication. Shailyn’s an expert at this point – she arrives with numbing cream over her port site so she doesn’t feel the needle stick.

    Once the infusion begins, mom usually brings Shailyn her favorite breakfast from the cafeteria – boiled eggs, bacon and fried apples! Then, Shailyn passes the time by playing Roblox or Minecraft, taking a nap and, of course, socializing with her CHoR friends. One visit (before COVID-19) she did all of the infusion nurses’ makeup – and they looked quite stunning. She also likes to do crafts with her child life specialist, Meredith, including making just about every color of slime imaginable.

    “Shailyn has such an upbeat, positive personality. Whenever she comes for her treatment she has a smile on her face and a new, animated story to tell. She leaves each time giving all of us air hugs,” said Meredith.

    Shailyn also became fast friends with CBS6’s Reba Hollingsworth and former meteorologist, Nikki Dee Ray during a special holiday Build a Bear party in the infusion center. The 8-year-old inspires everyone she meets!

    Thriving with continued care through COVID-19

    Air hugs are one of the adjustments Shailyn has made to her routine as she’s continued coming to the Children’s Pavilion weekly throughout the COVID-19 pandemic. She and her mom, like all patients and visitors, also go through the COVID-19 screening process and wear masks each visit – all worth it for consistent care from their favorite team.

    "The care team at CHoR is our dream team. Everyone is absolutely amazing and extremely kind."

    Shailyn’s mom, Princess

    Dr. Kerri Carter in our Children’s Hospital Foundation Heart Center has been seeing Shailyn since she first came to CHoR and is another key member of this dream team.

    “Shailyn came to me as an inpatient several years ago after being referred from an outside provider. We worked over the next several months to optimize her medication and thereby her heart function and she’s done amazingly well,” said Dr. Carter. “She is just a beam of absolute sunshine every time she comes to clinic. I look forward to every single visit and her hilarious updates about home and school and friends. While I’m so glad she’s doing so well it means I don’t get to see her as often, so it’s a little bittersweet.”

    Of course everyone at CHoR is thrilled to see Shailyn thriving. When she was initially diagnosed, doctors told Princess that her daughter wouldn’t grow. Since then, she has grown tremendously and enjoys the same activities as most of her peers.

    “What makes me the most proud of Shailyn is when I look at where she started and where she is now, just seeing how beautifully she has evolved,” added her mom.

    Thursdays are the best days

    While Shailyn is eager to see her teachers and classmates again, she understands what’s going on with COVID-19 and the importance of staying safe. Right now, she enjoys her time off and looks forward to Thursdays so she can ‘play with her friends’ at CHoR – and her friends at CHoR certainly enjoy spending quality time with her too!

    “We definitely look forward to Thursdays because we know that around 9 a.m. the doorbell (on the infusion clinic door) will ring and on the other side will be Shailyn smiling with her cute outfit on and her new hairstyle. She is our bright and shining star,” said Nurse Donna.

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