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 de novo mutation, meaning the genetic mutation occurred spontaneously and was not inherited from either parent. “We were quite nervous when we first learned about Emma’s diagnosis and the associated health risks that could come with it,” her parents share. They didn’t know anyone with achondroplasia, and the thought of navigating Emma’s health journey was overwhelming.
Luckily, shortly after receiving Emma’s diagnosis, Megan was able to connect with other moms whose children also had achondroplasia through Facebook. “They were such a wonderful source of knowledge and encouragement,” say her parents. “Every single one of them urged us to contact Nemours Children’s Hospital, Delaware. And we’re so thrilled we did!” The online community’s unanimous recommendation gave Megan and Brian the motivation to reach out to Nemours Children’s, a decision that would prove to be transformative.
“Our first connection at Nemours was Mary Little who exuded such genuine warmth and support that we were instantly put at ease,” they share. “We knew we were in good hands and that reassurance made all the difference as we prepared to welcome Emma.” Two weeks after Emma was born, the family made the trip to Delaware to meet the full skeletal dysplasia team. “From that very first visit, we knew we were in the right place and Emma would get the best care possible. Nemours has provided us access to an incredible team of experienced specialists who regularly treat other patients with achondroplasia. Emma has a coordinated care team that not only monitors her health closely, but also checks in and supports us as new parents as we navigate life with a young baby and some unexpected health considerations. We’re so grateful for this team walking alongside us every step of the way.”
Emma’s care team at Nemours has included Dr. Jeffrey Campbell, Dr. Mahim Jain, Dr. Aaron Chidekel, Angie Duker, MS, CGC, Sarah Little, PA-C, Colleen Ditro, DNP, CPNP, Mary Ellen Little, BSN, RN, and many more. “Our experiences with Nemours doctors, nurses, and clinicians have been outstanding,” share Emma’s parents. “It’s been clear that we are surrounded by the foremost experts in achondroplasia. Their deep understanding of the condition, combined with years of experience treating children like Emma, gave us confidence that she was receiving the best possible care. Beyond their medical expertise, they also take the time to guide families, answer questions, and provide support, making a complex journey feel manageable.”
With a plan in place and a community of caregivers supporting them, Emma and her family are looking towards the future. Regular check-ups with the orthopedic, neurosurgery, and pulmonology teams at Nemours have become a routine part of their lives. These appointments, occurring every few months, are crucial for monitoring Emma’s growth and development. “We understand there are still unknowns in Emma’s health journey, but Nemours gives us a feeling of confidence knowing such thoughtful medical professionals will be with us at every step,” share her parents.
While the medical support is essential, the emotional and social aspects of their journey are equally important. The Nemours team encouraged Emma’s parents to connect with Little People of America, a nonprofit organization that provides support, resources, and information to individuals with dwarfism and their families. “We’ve loved making new friends and becoming part of this community on both the local and national level,” say her parents. “In July, we attended our first National Conference in San Diego, and it was an incredible opportunity to meet families with achondroplasia and better understand their lived experience. We felt such a wonderful sense of connection and support that we plan to make the LPA and these larger gatherings a part of our family life as Emma gets older. We also plan to celebrate World Dwarfism Day and Dwarfism Awareness Month in October as a special family tradition and to involve our friends and families!”
For parents who may be on a similar path, Emma’s parents share this heartfelt advice, “Avoid internalizing everything on your own and seek external support from the start. Engage fully with your care team, and don’t feel like you need to become an expert overnight. Connecting with specialists and other families who understand the experience provided us invaluable guidance and reassurance. Ask questions, trust the expertise of your medical team, and remember that while there may be uncertainties, you don’t have to face them alone. With the right support and resources, your child can thrive.”
Emma’s first year has been a journey of discovery and growth, and her parents are deeply grateful to Nemours for the guidance and care they have received. “They have empowered us as parents and given Emma the best possible start,” share Megan and Brian. “While we still have much to learn and experience as parents of a soon-to-be toddler, it’s reassuring to know we have an incredible team and community by our side.”
