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Achondroplasia Dwarfism

Megan and Brian were overjoyed when they learned of their pregnancy with Emma. Like many expectant parents, they were filled with excitement and anticipation. However, their journey took an unexpected turn during a routine 24-week OB/GYN visit. Their doctor noticed that Emma’s growth had dropped significantly to the 3rd percentile, a development that immediately raised alarms. “It was recommended we see Maternal-Fetal Medicine specialists on account of the high-risk pregnancy,” share Megan and Brian. “After several more visits and an amniocentesis, we learned that Emma had achondroplasia, about one month before she arrived.” Achondroplasia is the most common skeletal dysplasia leading to disproportionate short stature. “We are both average height parents and do not have any family history of achondroplasia, so we did not know a great deal about the condition until we met our sweet Emma,” share Megan and Brian. In Emma’s case, her achondroplasia was caused by a […]

From the very beginning, Sophia’s life has been intertwined with achondroplasia dwarfism. Diagnosed at birth, she started her medical journey under the care of Dr. William Mackenzie and Colleen Ditro, two dedicated clinicians at Nemours Children’s Hospital, Delaware who have been by her side since day one. Born and raised in Colorado, Sophia was introduced to Nemours Children’s through LPA (Little People of America). Here, she first met Dr. Mackenzie and Colleen and they have followed her since birth, connecting yearly at LPA conventions. As she grew older, Sophia continually defied expectations, becoming a professional athlete and earning medals in two Paralympic games as an elite swimmer. When she retired from professional sports and began exploring new avenues, Sophia took up running. However, she began to encounter some hip issues along the way. This led her to seek medical advice from Colleen who recommended Sophia come to Delaware and see Dr. […]