Achondroplasia: coordinating care among your providers

Achondroplasia is a genetic disorder that affects bone growth and development. A diagnosis can be made before birth or shortly after birth. Symptoms can include short stature, short limbs, enlarged skull, prominent forehead, and a flattened nasal bridge.

This condition can cause a variety of complications, some that pose a significant risk to a person’s health. Treatment will involve monitoring for complications, taking steps to prevent complications, and addressing any complications that can occur.

Human growth hormone is a potential therapy in children ages 1 year to 6 years. Newer therapies that help increase bone growth may be a treatment option for children over the age of 5 with open growth plates (bones that are still in the process of growing). Because achondroplasia affects different people in different ways, treatment is individualized—which is a way of saying everyone's treatment needs will be a bit different.

Your achondroplasia care team

Achondroplasia affects many aspects of a person's health, and a person with this condition will typically work with multiple healthcare providers with different specialties. This is known as an interdisciplinary or multidisciplinary approach to treatment.

Members of a healthcare team can include:

• Pediatric endocrinologist
• Orthopedic surgeon
• Neurologist
• Geneticist
• Physical therapist
• Occupational therapist
• Counselors or other mental health professionals
• Orthodontist
• Speech therapist
• Otolaryngologist (ENT doctor)
• Pulmonologist
• Social worker or patient navigator

A primary care provider is also an essential member of a healthcare team—while a person with achondroplasia will need to work with specialists, they will also need routine healthcare like checkups, immunizations, and treatment for minor illnesses.

Coordinating care between healthcare providers

"Care coordination" refers to your healthcare providers' ability to share information with one another. As a person living with achondroplasia or an adult caring for a child with achondroplasia, you will be an important part of the care coordination process. Here are two strategies that can help:

Make one healthcare provider your point person

Communicating with multiple healthcare providers about multiple aspects of care can feel overwhelming. One strategy to help is to designate one healthcare provider as your "point person."

A point person should have an overview of all the different aspects of achondroplasia care, including information related to the diagnosis, contact information for other healthcare providers you are working with, information related to treatment, and information about other aspects of health (such as medical records and records of immunizations).

A point person may be the specialist that you are working with for the treatment of achondroplasia, such as a pediatric endocrinologist or a geneticist. Care coordination can also be a good topic to discuss with a primary care provider or a child's pediatrician, especially if these healthcare providers are closer to your home.

Keep a personal health record

A personal health record is a file that contains any paperwork related to a person's health. This file should contain:

• Genetic test results
• Growth measurements and developmental milestones
• Results of imaging studies
• Specialist evaluations (genetics, orthopedics, neurology, ENT)
• Treatment records, including medications and surgery
• Screening results for common complications
• Contact information for all healthcare providers you have worked with
• Paperwork related to medical expenses and insurance (invoices, receipts, explanation of benefits documents)

Also include your own notes, including lists of questions that you bring to appointments and notes that you write down during or after appointments.

Keeping this information—and keeping it organized—will save you time. For example, if your insurance provider needs documentation or if you are referred to a new specialist who has questions about previous treatments.