Coffin-Siris Syndrome: Julia’s Story
After four years of uncertainty, the Roberts Individualized Medical Genetics Center helped the Steigerwalt family find a diagnosis behind their daughter’s complex medical condition.
The IMGC team is comprised of genetic specialists including attending physicians and genetic counselors who are prepared to assist families and referring clinicians before, during and after any genetic testing your child requires.
After four years of uncertainty, the Roberts Individualized Medical Genetics Center helped the Steigerwalt family find a diagnosis behind their daughter’s complex medical condition.
Genetic tests revealed that James had two rare, unrelated syndromes. His treatment plan was adjusted to address his unique needs, and he is now thriving.
Genetic testing at Children’s Hospital of Philadelphia found a mutation in Connor’s STAT3 gene, which led to a tailored treatment plan.
Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.