Sophia was born with a cleft palate and perforated ear drums when she was just a toddler. She had to undergo two corrective palate surgeries and two tympanoplasty ear surgeries before turning 2 years old. However, it wasn’t until Sophia was 8 that she started experiencing irregular heartbeats. Sophia and her mother, Melissa, were then referred to a cardiologist in which Sophia was told she had an irregular heart murmur that had to be repaired through a Patent Ductus Arteriosus (PDA) procedure. During this procedure, they discovered other cardiac concerns. After extensive genetic testing at age 11, Sophia received a diagnosis —Loeys-Dietz syndrome. Loeys-Dietz syndrome is a genetic disorder that affects the connective tissue in the body. This syndrome has affected Sophia in several ways, including enlargement of the aorta, aneurysms, and life-threatening conditions.
Sophia’s journey with this rare disease has been complicated. She has had numerous surgeries including the most recent installation of a pacemaker, defibrillator for her heart and three spinal fusions for severe scoliosis. Due to a dissection of her aorta, she now has an artificial aorta made of synthetic material that remodels the veins in her heart. At one-point Sophia was in a medically induced coma for about 5 days which was a very scary time for the family.
Sophia, a 15-year-old sophomore in high school, has been able to remain strong and often uses humor to cope with her diagnosis. When she’s not at the hospital, she is focusing on being a normal sophomore in high school. Recently, Sophia went into cardiac arrest at a Shawn Mendes concert, her most favorite celebrity! Luckily, EMS arrived within a minute and were able to resuscitate her. Her mother Melissa is amazed at how much Shawn’s music has helped Sophia.
“The excitement of the concert was too much for her I guess. If only Shawn Mendez knew that he keeps her going with all these surgeries though. Every time she goes under anesthesia, she chooses one of his songs. His songs do help her cope, and I wish I could thank him for that.”
Melissa says moving forward all they can do is monitor the disease with specialists, get continued testing through CT’s, MRI’s yearly and take medication for beta blockers. She had to take a completely different position at work just to be able to focus on caring for her daughter.
“I did have to take a different position with about half of the salary that allows me to work from home intermittently. I went from being in a Director Role with my current company to now being an L and D Coordinator. I am so blessed to work for such a great company with amazing people who understand and support, allowing me the flexibility to care for Sophia. It is a bit tough trying to balance the two”.
Although Sophia did miss an entire semester due to hospitalizations, she still managed to catch up and be on the honor roll last year without letting her diagnosis hold her back. Her mother Melissa says doctors are continually amazed at this strong teenager.
“They are amazed at Sophia because she’s this little miracle. With everything that can happen with her diagnosis, they are amazed at how well she is doing.”
For most parents like Melissa, they are forced to choose between work and staying at their sick child’s beside. When you are faced with that reality, covering household bills for things like rent, utilities and transportation can seem impossible.
Today, you can help families make ends meet while their child is receiving care at AdventHealth for Children. Every dollar you donate helps local families like Melissa and Sophia, with basic needs while their child is in the hospital.
Learn more about AdventHealth for Children’s Day of Giving on December 16 and donate today to make a difference this holiday season.
