In his first 18 months of life, Francesco has been to four hospitals across three different states and undergone a number of surgeries to address the complications of skeletal dysplasia, a category of genetic disorders that affect an individual’s bones and muscles. Francesco was diagnosed with a rare form of skeletal dysplasia that specifically impacts his ribs, making it difficult for his lungs to grow properly. “His trunk is very short, and his chest is very small,” explained Francesco’s mom, Priscilla. “This made it difficult for him to breathe.” To make sure he gets the all the oxygen his body needs, Francesco has a tracheostomy tube and relies on a ventilator to support his breathing.
Chicago is home for Francesco’s family, but they traveled to Boston for his birth to work with a team of specialists who were familiar with Francesco’s condition. He was later transferred to a hospital in Philadelphia to undergo a series of surgeries. “For the first two surgeries, they needed to break his ribs and reattach them using a titanium rod. This helped to create more space for his lungs to grow,” explained Priscilla. “This surgery works in two phases. They did the right side first, let him heal for three months, then did the left side.” Now, Francesco will need to get that rod adjusted and expanded every six months as he gets bigger.
When it was time to look for rehabilitative care, Francesco and his family arrived at La Rabida. “I really liked that La Rabida cared for children with special conditions. The fact that they specialized in kids like Francesco made me feel so comfortable,” said Priscilla.
While at La Rabida, Francesco has been receiving a variety of rehabilitative and developmental care, including physical therapy, occupational therapy, speech therapy, and he works closely with our infant development and child life teams. “I have to say, I have seen a lot of progress here. He is moving around and grabbing things more. They really helped him learn how to sit and be upright,” explained Priscilla.
Learning how to do this allowed for the making of a very special moment – Francesco’s very first stroll outside. With the help of Priscilla and his therapists, Francesco was able to go outside and enjoy the summer sunshine. “That was the first walk here and it was a big deal. I got so emotional. He was so calm and happy. He wouldn’t be able to sit up like that without their help. He was so in awe of everything,” shared Priscilla.
Francesco is working on getting stronger and stronger each day. “Our team is working with Francesco to come down on the amount of breathing support that he requires. It’s a long but steady process. That’s what so special about La Rabida – that we’re here for the long-term care and are able to apply incremental changes that will make a big difference,” explained La Rabida’s Dr. Robert Sanchez. “I just want to say thank you so much for the care and the love for Francesco,” shared Priscilla. “It is hard for a mother to separate constantly, but I do feel peace of mind here. He feels pretty comfortable at La Rabida. I can tell the difference when we’re at other hospitals. I can tell that he is happy here and more at home.”
This story was featured in the June 2021 issue of eCurrents. Read the full issue here.
