Santi knows how to charm everyone he meets and has a long list of friends to call upon. At only age 7, Santi has memorized the telephone numbers of all his favorite people, including some of his nurses at Nicklaus Children’s Hospital.
“He calls his nurses and friends in the medical field. He asks how their day is going and when he will see them again,” says his mother, Vanity.
Santi brings joy to everyone around him, despite his medical limitations. Santi was born with SMARD1, a rare and life-altering autosomal recessive neuromuscular disorder, caused by mutations in the IGHMBP2 gene. Children with this genetic condition can suffer spinal muscular atrophy with respiratory distress type 1 (SMARD1), which causes recurrent respiratory infections, muscle and bone weakness, and causes inability to move muscles in the upper and lower body, due to progressive spinal motor degeneration.
“My son requires full-time assistance to tackle his mechanical, respiratory, and nutritional needs. Santi relies on supportive ventilation to help him breathe. A pulse oximeter is constantly measuring his heart rate as well as the oxygen saturation levels. He also relies on medical equipment to manage his mucus and secretions. Sometimes, these machines are used three times a day,” says Vanity.
Santi cannot move his limbs or keep his neck upright. He wears special boots to maintain the shape of his feet and uses a specialized wheelchair to move. He is also unable to chew and swallow. He relies on a gastronomy tube (G-tube), that was surgically placed through the skin, is used to provide nutrition and fluid needs directly to his stomach.
Santi sees a long list of specialists, all within Nicklaus Children’s Hospital and its health system, to keep him active and healthy. The team of specialists, referred to as a multidisciplinary group of doctors, nurses, and specialists, to create a personalized care plan for Santi, and ensure his individual needs, including any medication interactions and diet restrictions, are considered. This team consists of pediatric neurologists, orthopedic surgeons, pulmonologists, geneticists, nutritionists, ENTs, ophthalmologists, psychologists, and many more.
Dr. Migvis Monduy, Director of the Neuromuscular and Movement Disorders Programs at Nicklaus Children’s Hospital, is one of the many pediatric specialists who provide care for Santi and says “he is always a joyful little boy who is happy to talk to anyone he meets. Santi is an inspiration to us all, including all of us within the Neuromuscular team.”
“To be able to rely on our doctors and nurses all in one place is a blessing,” says Vanity. “They know Santi’s history and can work together as a team to address any needs when arise, especially when there is a bump in his journey or if he is sick. As a mother of a child with so many needs, it is a relief to have a team of specialists like them to help care for him.”
