Tips for Parents of Children With Achondroplasia: Be Prepared in the Doctor’s Office

Your child will thrive with an individualized care plan. That starts with seeing the right doctor as soon as your baby is diagnosed. This might be a doctor at a skeletal dysplasia center or an independent achondroplasia specialist, like a pediatric endocrinologist. If your general pediatrician hasn’t given you a referral, ask for this. Or use the Pediatric Endocrine Society search tool. Another resource is Little People of America. It lists the names of its Medical Advisory Board experts as well as regional medical centers. If none are near you, you may be able to get a telehealth appointment.

If you don’t have access to a skeletal dysplasia center or if your pediatric neurologist has limited experience with achondroplasia, you can help educate them. The key resource is the American Academy of Pediatrics report Health Supervision for People With Achondroplasia, which was revised in 2020. It includes comprehensive guidelines for every age. Even though it’s written for medical professionals, it shows you what you’re entitled to expect in terms of your child’s care.

The American Academy of Pediatrics recommends key tests within your baby’s first month, including neurologic and hearing tests and a sleep study. These are common complications to look for, like apnea (temporary breathing pauses) and ear infections. Also important are measurement charts that check your child according to growth patterns seen in people with achondroplasia. You can access them at Beyond Achondroplasia. It’s also important to monitor head circumference, height, weight, height-to-weight ratio, and motor and early communication skills, all with achondroplasia-specific tools.

Each visit gives your doctor a look at your child’s health in only that moment. When you keep a journal at home, you can note changes in behavior, any difficulties they’re having, and anything else that might not show up during the appointment. If you’re interested in taking growth measurements, you can add them as well. Also, keep a running list of non-emergency questions you want to ask. Take notes in your journal at all appointments.

Your child may need to see their primary doctor and specialists quite frequently for monitoring, tests, treatments, and therapies. Use your smartphone or bring a paper calendar with you so you can block out these times and keep track of them more easily. Ask for your own copies of test results, medical records, treatment details, and routine wellness steps like vaccines. Keep them in a dedicated folder. This information will be important to any new specialists you see.

Your child will need regular follow-ups from different specialists, like an ENT, because middle ear infections are common. A pulmonologist can also check for and treat apnea. The team will grow over time as your child grows and their needs change. An occupational therapist helps with everyday activities like eating and writing. A developmental therapist helps with age-appropriate behaviors and social skills. Your child might need a speech therapist, physical therapist, orthodontist, and orthopedic surgeon later in childhood. Whenever your child faces a new challenge, ask if there’s a specialist to address it.

Whenever you meet a new specialist, ask key questions. These might be about their experience with achondroplasia, how the treatments or therapies they’re suggesting will help, and what side effects could occur. This is especially important if your child needs surgery because of special considerations for the anesthesiologist. Your child’s body needs to be positioned without hyperextending their neck, and medications need to be based on weight, not age.  It’s also a must to know which provider will be the team’s point person and keep the others in the loop. This might be your pediatric neurologist or a hospitalist at a skeletal dysplasia center.

During infancy, some complications can be life-threatening. Apnea may signal that the baby’s already-narrow foramen magnum (the opening at the base of the skull where the spinal cord and brain connect) is being dangerously compressed. A noticeable increase in head size could signal hydrocephalus, fluid trapped in the head. During childhood, your child could be at risk for a different type of apnea with signs like snoring and waking up with a headache. Repeated ear infections, difficulty hearing, and delays in speaking can signal a chronic middle-ear problem. Know what signs should prompt an immediate call to your child's doctor and what number to use after office hours.

How you hold your baby matters, whether cuddling or feeding. Your car seat and carrier need to have a firm back to support the neck and may need to be rear-facing for as long as possible. Ask for more details from your doctor, especially cautions about baby swings and slings. They lead to uncontrolled head movement, which can increase the risk for foramen magnum compression.

Research new treatments for achondroplasia so that you can bring them up with your child’s doctors. You may need to make them aware of new drugs on the market and other approaches to monitoring your child’s wellness. For example, scientists in Israel have developed an AI-assisted tool for getting faster and highly accurate growth measurements. There are also new growth drugs in development. Your family may want to consider participating in a trial.

There’s a lot of information for you to absorb, a lot to learn, and even share with your child’s medical team. This is all on top of trying to process how achondroplasia is affecting everyone in the family. Consider accepting mental health support from a therapist if it’s offered by your child’s medical team. If it isn’t, ask for it. Counseling can help you have realistic expectations for your child. Having a support network that includes parent groups will also help you stay strong.