It can be heartbreaking when a child has a birth defect. No one understands this better than the health care professionals at The Alfiero & Lucia Palestroni Birth Defects Center at St. Joseph’s Children’s Hospital. The Center was established to diagnose and treat a wide range of birth defects. With a multidisciplinary team of pediatric specialists, the Palestroni Center is one of a few such Centers in the United States, and the only one of its kind in New Jersey. The goal of the Center is to provide a medical home for children with complex conditions and to support families in what is often a very stressful situation.
The Center was established in 2007 through the generosity of the Alfiero & Lucia Palestroni Foundation and is sustained by generous donations from our donors. The generous gift from the Alfiero & Lucia Palestroni Foundation has directly impacted the lives of thousands of area children by ensuring that they continue to receive the best-possible care, and their support helps save numerous lives on a daily basis.
Parents and families can expect that our cohesive team will provide individualized care, education, diagnosis and treatment that is consistent with the family’s need. Our unified group of physicians, surgeons, and healthcare providers work together with the shared goal of our patients’ rehabilitation. Patient care is centralized and coordinated, minimizing missed days of school and work. In addition, information is shared among all primary care physicians, specialists and health professionals involved, ensuring the highest quality of coordinated care for each patient.
The Center’s multidisciplinary team combines the expertise of subspecialists available at the St. Joseph’s Regional Medical Center including Maternal-Fetal Medicine, Genetics, Neonatalogy, Craniofacial, Cardiovascular Services, Orthopaedics, Neurology, Feeding and Swallowing, Dental/Maxillofacial, Otolaryngology, Physical Medicine, Developmental, Pastoral Care, Nursing and Social Work.
Karla is a patient of the Palestroni Center. With the help of the team, Karla was diagnosed with a rare genetic condition called Fanconi-Bickel Syndrome. Fanconi-
Bickel syndrome (FBS) is a rare genetic disorder of carbohydrate metabolism. Also known as glycogen storage disease type XI, the disease was first described by scientists G. Fanconi and Horst Bickel in 1949. Since then, only a few dozen cases of FBS have been studied, most in the United States, Europe, and Japan. Onset
of FBS is within the first year of life, with the overt symptom being a failure to thrive. At age two, an enlarged liver and kidneys as well as rickets are present. The incidence of FBS has not been determined but it is believed to occur in less than one in one million Births.
This is Karla’s story:
Karla was born in the Dominican Republic and lived there with her biological mother until she was 6 years old. While living in the Dominican Republic, Karla
had very limited access to medical care. She could not walk or bear weight on her legs and therefore was not sent to school. Karla was treated as though she was mentally ill because of her physical limitations and was not given any hopes or expectations. Her father knew that she would have better access to medical care in the United States, so in 2010 he was able to obtain a Green Card to bring Karla to the United States.
Karla was first referred to St. Joseph’s Children’s Hospital by a pediatrician who had concerns that she was not walking. Karla’s first appointment was with Dr. Allan Strongwater in Orthopedics who became concerned because of the size of Karla’s abdomen. He immediately came to the team to see how Karla could be helped.
Karla attended her first appointment at the Palestroni Center in December 2010. At that visit, blood work was conducted to determine any genetic conditions that Karla could have been suffering from. Blood test results showed a phosphorus deficit, and soon after a diagnosis of Fanconi-Bickel Syndrome was made.
Treatment for Fanconi- Bickel Syndrome requires phosphorous replacement therapy, vitamin D replacement, bracing of the legs and hips, as well as a strict
physical therapy schedule. With medication, bracing, physical therapy, and a lot of hard work Karla has learned how to stand on her own and now she is even able to walk on her own.
Karla has always had a strong will and determination to do everything that other children her age are able to do. When she began seeing us, she would always ask for a wheelchair so she could go to school to learn English. The team was able to provide Karla with a wheelchair and soon her goal of going to school came true. Karla began attending school in 2011. Since beginning school she has learned to read and write in both English and Spanish.
Karla is a very happy child and has an eagerness to learn. With the help of the medical team she has been able to reach her goals. She continues to receive phosphorus replacement therapy and vitamin D therapy, and improvements have been remarkable thanks to the Palestroni Center.