#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties. Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care. In This Episode, We Discuss Building a Medical HomeWhat a “medical home” means for children with achondroplasiaCommon concerns families raise after a new diagnosis, beyond heightSupporting families early while planning for long-term care Co-Morbidities & Clinical ComplicationsKey conditions clinicians should monitor in infants and children, including:Foramen magnum stenosisHydrocephalusSleep apneaENT issues like recurrent ear infections and hearing loss Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs How chronic pain presents and is managed across childhood and adulthood Living With AchondroplasiaHow medical needs evolve from childhood into adolescence and adulthoodThe role of fatigue, mobility limitations, and accessibility in daily lifeBalancing medical care with childhood independence and normalcyUnder-recognized burdens that significantly affect patients and families Multidisciplinary Care in PracticeWhat a full skeletal dysplasia care team looks likeHow palliative care supports symptom management, decision-making, and quality of lifeCoordinating care across specialties like orthopedics, neurosurgery, ENT, and audiologyPreventing communication breakdowns between providersHelping families navigate complex choices around interventions and surgeries Looking AheadGaps in current care models for achondroplasiaHow emerging treatments are changing long-term planning conversationsKey takeaways for providers who may only occasionally care for patients with achondroplasia Our Guest Dr. Ricki Carroll: Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee. Achondroplasia Resources: Little People of America (LPA) Dwarf Athletic Association of America (DAAA) International Achondroplasia Forum Achondroplasia GeneReviews Achondroplasia Growth ChartsIreland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 Relevant Skeletal Dysplasia DNA Today Episodes: #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer #301 Dwarfism with Colleen Gioffreda #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia ...