Diseases & Conditions

Potocki-Shaffer Syndrome: Son’s Rare Medical Condition

Potocki-Shaffer Syndrome

A concerned mother came to 2nd.MD for assistance with understanding her son’s rare medical condition, Potocki-Shaffer Syndrome. The 9-year-old’s condition causes abnormal bone growth and possible pain with movement. With her son also being non-communicative, his mother Isabella had a number of questions about her son’s current treatment plan when he seemed to be in continued pain.


One of 2nd.MD’s top specialists, an expert from Boston Children’s Hospital, consulted with Isabella, providing clarity on her son’s condition and what she could expect in the future.


Isabella was relieved, and after the consult, expressed that she felt confident that she was doing the best she could for her son.


In response to her consult, Isabella stated that “The doctor was helpful and very knowledgeable about children’s bone growth.”


“The doctor specifically addressed what I was concerned about in a kind and patient way.”

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