Cesar’s mother, Jeanette, learned her 2-week-old son had CHARGE syndrome when she happened to glance at his medical chart at her local hospital. That lack of communication has been, luckily, overshadowed by the robust way Cesar’s team at the New Jersey Transition to Adult Coordinated Care (NJTACC), a special program of Children’s Hospital of Philadelphia (CHOP), has helped her prepare for Cesar for adulthood — both medically and otherwise. Communication is a hallmark of the NJTACC.
Jeannette soon learned that CHARGE syndrome affects many areas of the body. CHARGE is an acronym that stands for coloboma (a hole in one of the structures of the eye), heart defects, atresia choanae (a congenital narrowing of the back of the nasal cavity that causes difficulty breathing), growth retardation, and genital and ear abnormalities. Cesar struggled with many of these features, ultimately requiring a tracheostomy for respiratory support and a feeding tube for nourishment.
Cesar has been under constant care of pediatricians and specialists who have helped manage his needs. As he got older, autism, associated with CHARGE syndrome, left him nonverbal; complicated behavioral issues began to emerge, as well. Caring for Cesar and maintaining a stable environment for the family required careful coordination. Jeanette had a hard time finding the help she needed. As he got older, Jeanette worried about how difficult the transition to adulthood could be for a person with special needs and those who care for them.
Understanding the Whole Person Behind the Conditions
Jeanette received an email in 2019 from the New Jersey Transition to Adult Coordinated Care (NJTACC), a special program of Children’s Hospital of Philadelphia (CHOP), asking if she and Cesar, now 15, wanted to participate in a new program designed for patients with special needs who are approaching time to transition to adulthood. For her, the program was the solution to help her manage the number of doctors and the complexity of medical information she needed to process during a regular day in Cesar’s life.
“Cesar has many doctors,” says Jeanette. “Each doctor is an expert, but they don’t understand that they can confuse us as parents when we are not just dealing with one specific condition, but the whole person.”
Jeanette found it difficult, at times, to fully comprehend each doctor’s recommendations, deciphering medical jargon while trying to make serious decisions based on the opinions of varying specialists. This was especially difficult when the specialists’ recommendations contradicted each other.
When Jeanette met Alyssa Siegel, MD, NJTACC Clinical Director, she found the solution to her challenges caring for Cesar. Dr. Siegel had a unique ability to step back and evaluate him beyond the separate medical conditions.
“Dr. Siegel helped me understand Cesar as a whole person and how to try to take a new approach to make better decisions in caring for him. Individual doctors might treat the individual part of his body, but Cesar is not only that part of the body, but a whole person,” Jeanette says. “This program helps me understand how to process all the information from each doctor as a complete plan, and Dr. Siegel always has the right words to say and the time to explain everything I need to know.”
Since connecting with NJTACC, Jeanette says that caring for Cesar has become easier on her family. She has been able to learn how to make distinctions between issues that have a medical basis versus those that require behavioral management and how to best handle them. For example, as Jeanette struggled to address Cesar’s difficulty with sleeping, she was confused as to whether medication or behavioral strategies would be most appropriate.
Creating a Comprehensive Plan Based on Individual Care Concerns
Dr. Siegel addressed Jeanette’s concerns and helped her prioritize areas she should focus on to improve Cesar’s care.
“Dr. Siegel listened to me and understood my concerns,” she says. “I went in with lists, and she was receptive and had time to answer my questions. They never rushed me, and they developed a plan that gave me five issues to concentrate on.”
Jeanette appreciated that Dr. Siegel reviewed the plan of each specialist and explained how each component of his care could affect another. “She connected everything so that I can treat Cesar completely,” Jeanette says.
Creating a comprehensive plan eliminated a lot of Jeanette’s fear in managing Cesar’s daily activities. She’s proud that her son has made significant achievements in his development and that she has learned to recognize his capabilities.
“Cesar is nonverbal. It’s hard to understand how his brain is working,” Jeanette says. For example, she had avoided advancing Cesar’s feeding skills to include liquids because she feared he would not be able to coordinate swallowing, despite evaluations that proved that it was safe. “But his expressions show me that he is able to do it, and that we need to make some extra time in our schedule so he can try it on his own and learn,” she says.
Mother’s job includes being an advocate
Jeanette has found that having a son with special needs is like having many full-time jobs. “You have to be a mom, a nurse, a therapist, an insurance rep, an educator and, above all, an advocate. You have to fight for the general public to see your child as a member of society,” she says.
“Cesar is a person with feelings and needs who should not be disregarded as anything less. You have to constantly fight with the insurance company to pay for services rendered or the school system to take the time to educate him. As a parent of a disabled child, I have dedicated my life to ensuring he is loved and cared for.”
But she struggled with the many administrative tasks, feeling it was nearly impossible to secure the best benefits for Cesar, where to find them and how to access those that would provide ongoing care. The NJTACC team explained the available options, connected her to the appropriate agencies, and provided all documentation to ensure his eligibility. “To have help with the paperwork for the insurance was exactly what we needed,” says Jeanette.
After battling for the past 15 years, Jeanette has found a group of professionals at NJ Transition to Adult Coordinated Care that has made a huge impact on her family’s life, now and as he approaches adulthood.
“For a long time, I felt alone in the treatment of my son,” she says. “Now, for the first time, I feel like there is a group of individuals on Cesar’s team, and every day I feel like we are getting closer and closer to ensuring my son has the best quality of life.”