Achondroplasia Care

The more you learn about achondroplasia, the more overwhelming it might feel. While you can learn a lot on your own, it’s also important to find a specialist who has expertise in achondroplasia. Working closely with an expert can help ensure you’re getting the right care at the right time for your child.

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You can also find a skeletal dysplasia expert—someone with expertise in achondroplasia and other forms of dwarfism or growth disorders. If you don’t have access to a skeletal dysplasia clinic, here are a few questions to consider asking healthcare providers to help you decide if they have the expertise you are looking for:

1. How many children with achondroplasia or other skeletal dysplasias have you treated?
2. Have you been involved in any research on achondroplasia?
3. What other types of doctors should my child be seeing?
4. How will you coordinate care with the rest of my child’s healthcare team?

MEDICAL PROFESSIONALS

Because of the effects throughout the body, for optimal outcomes, many different specialties should participate in the care of people with achondroplasia. Your child may begin to see certain specialists at certain times. Some will follow your child over their lives, while others will be more important at certain ages. Consider talking with your doctor to help you assemble a care team that includes medical and other health professionals.

Each person’s healthcare team may differ. These are some of the specialists your child may see over time.

Cardiologist

Adult

Regularly monitors blood pressure and other risks for heart disease and addresses any heart-related issues

Ear, nose, and throat (ENT) specialist

Infant / Toddler

May insert tubes to prevent chronic ear infections or remove the tonsils and/or adenoids to help with sleep apnea

Neurosurgeon

Infant / Toddler

Monitors for complications like fluid on the brain or pressure on the brain stem or spinal cord and, if necessary, performs surgery to correct them

Clinical geneticist

Infant / Toddler
Child
Teen
Adult

May be involved in the achondroplasia diagnosis and provide ongoing care, including genetic and family planning guidance

Orthodontist

Child
Teen

Treats problems with the teeth or mouth, like misaligned teeth, a narrow palate, open bite, or underbite

Orthopaedic surgeon

Child
Teen
Adult

Corrects bone problems that cause pain and affect mobility, including surgery if necessary

Respiratory Physician

Infant / Toddler

Addresses any breathing problems, especially in infancy

Paediatrician or primary care doctor

Infant / Toddler
Child
Teen
Adult

Performs regular checkups and monitors developmental milestones. Your child’s primary care doctor may also refer you to a paediatric endocrinologist, who may help monitor the growth of your child

Sleep specialist

Infant / Toddler
Child
Adult

A medical doctor who has completed additional education and training in the field of sleep medicine and can help monitor for and manage sleep apnea

Ophthalmologist

Child

Treats problems with the eyes, like blurred vision or eye misalignment (such as crossed, drifting, or wandering eyes), which can happen because of the way the bones develop

Psychologist or other mental health provider

Teen
Adult

Provides support and guidance for psychosocial and emotional issues

Other Health Professionals

• Occupational therapist helps to improve physical strength and function for activities of daily living
• Physical therapist helps increase mobility, align bones and joints, or lessen pain
• Nutritionist or dietitian helps manage weight and avoid obesity through nutritional planning

Special Considerations When Having Surgery

It is important to work with a surgeon and anaesthetist who have experience treating people with achondroplasia. This is because of the special considerations needed to reduce the risks of complications associated with airway management and other anatomical differences.

Consider Needs Other Than Medical Care

Expert medical care is just one part of caring for a child with achondroplasia. There are also practical considerations, from keeping your infant safe to accommodating the physical needs of your school-age child. Taking proactive steps and turning to others for support can help. You can share this information with your child’s paediatrician, who may be less familiar with achondroplasia than the specialists your child sees.

Special Needs of Infants

The early months of your baby’s life require extra attention. This is because of potentially serious complications that can happen in that first year.You can help protect your infant by following your doctor’s advice and some basic guidelines. Many of these are common-sense tips for the safety of all babies:¹

DOs
• Be sure to always support your baby’s head, neck, and full spine.
• Give your baby lots of supervised tummy time.
• When shopping for a stroller, choose one with a solid back.
• Keep your child in a rear-facing car seat as long as possible.

DON’Ts
• Don’t let your baby sit unsupported until they can do so on their own. That independence will come in time.
• Be careful about the type of automatic swing you choose. Select one with a hard surface and keep it inclined at a 45-degree angle.

Ask your skeletal dysplasia specialist for recommendations for the best types of swings, car seats, and other supportive devices for infants with achondroplasia. Be sure to talk to your doctor for medical advice on how to best protect your infant.

Image showing a child stepping on a stool

Adaptations

A hallmark of growing up is independence. As children get older, they want to do more on their own—at home, in school, and out in the world. Some simple adaptations to your child’s environment can help them achieve independence and do things for themselves. It’s important to be proactive and reach out to your child’s school about basic adaptations that can help.

• Step stools, lower door levels and light switches, and lower appropriate kitchen appliances are just a few examples of everyday basic accommodations that can make life easier for children and adults with achondroplasia.
• Personal hygiene is just that—personal. But your child may need help with hygiene, either from another person or by using adaptive tools, such as a toilet wand, which can be introduced when potty training.
• In school, adaptations like weighted pens and wrist braces can help your child keep up with note-taking and written assignments. Lower hooks, or lockers can also help your child be independent.
• Modified chairs provide better back support, and foot stools keep your child’s feet from dangling for more comfort in school and at home.
• When your teenager starts to drive, pedal extenders can help them reach the pedals so they can drive safely, and seat boosters can help them see above the dashboard.

Image showing two people walking side by side

Psychological & Social Support

The adolescent years are tough. From peer pressure to insecurities, teenagers go through a lot. These years can create unique challenges for a teenager with achondroplasia, who may feel different, left out, or bullied. Sadly, social challenges cause some teens with achondroplasia to experience depression or anxiety.

These challenges can carry into adulthood. It’s important to connect with resources that can offer psychological and social support, such as mental health professionals, school counselors, and advocacy groups.

Local chapters of advocacy groups also offer support groups so families can connect with one another.

Image showing four people holding hands in the center

Community

Helpful information and resources for living with achondroplasia can be found through these associations:

International Coalition of Organizations

Supporting Endocrine Patients (ICOSEP) builds a global voice to share information and resources pertaining to medical conditions affecting children’s growth.

http://icosep.org/

References:

Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134.