Life With Achondroplasia: Proactively Working With Your Child's Healthcare Team

This article is for the families and caregivers of children who are living with achondroplasia, or anyone who wants to learn more about achondroplasia. The goal of this activity is to help you talk to and work with your child's doctor and healthcare team about your child's care.

You will learn about:

• What achondroplasia is and what may cause it

• Symptoms and complications that may happen

• Getting your child support to help meet their needs as they grow up

• Building your child's healthcare team and making a care plan

• Questions you can ask

Achondroplasia is a bone growth condition. It belongs to a group of rare conditions called skeletal dysplasias where bones, joints, and cartilage (flexible connective tissue) don't develop properly.

Achondroplasia is also the most common type of dwarfism, a form of skeletal dysplasia where people have short stature (height) because of a genetic reason. People who are living with achondroplasia have an average-sized torso or trunk (middle area of the body) and shorter arms and legs. The average height for adults who are living with achondroplasia is about 4 feet tall.  

Achondroplasia is caused by a gene mutation. Genes inside your cells carry information that determines your traits (features or characteristics), and changes in genes are called mutations.

The gene mutation for achondroplasia can be inherited (passed on from a biological parent) or happen spontaneously. Most times, it is not inherited and the gene mutation happens on its own during conception. It's not known exactly what causes this, but it's thought to be random and may happen with any pregnancy.

In addition to short stature, people who are living with achondroplasia can have physical traits or characteristics such as:

• Large head with a prominent (stands out) forehead

• Flattened nose bridge

• Shortened arms and legs

• Legs that are bowed (curved)

• Hands with an extra space between the middle and ring fingers called a trident hand

• Forward curve in the lower spine

While people who are living achondroplasia have certain physical traits, achondroplasia does not affect someone's intelligence or mental abilities.

People who are living with achondroplasia may also have physical complications or health problems such as:

• Spinal stenosis, where the area around the spine narrows and squeezes it causing back pain and leg pain or numbness

• Foramen magnum stenosis, where the opening at the bottom of the skull narrows putting pressure on the brain or spinal cord

• Hydrocephalus (fluid build-up in the brain)

• Headaches

• Arthritis

• Frequent ear infections that may lead to hearing loss

• Apnea (brief times when breathing slows or stops)

• Obesity or weight gain

• High blood pressure

Certain complications can start as early as infancy and may be life-threatening if not found and properly managed. So getting your child care as soon as possible after being diagnosed as living with achondroplasia will be important.

Achondroplasia can affect different parts of your child's body at different stages of their life. So having a healthcare team that can help meet their needs as they grow up is important. Their team may also change over time as they get older and their needs change.

Your child's development schedule will differ from that of an average-statured child and they may hit milestones -- such as crawling, sitting, standing, and walking -- at different times and in a different way. Ask your doctor about specialized growth and development charts so you can track your child's progress.

Building a team that includes specialists to help meet your child's individual needs is key. So in addition to your family doctor or pediatrician, your child may also see healthcare team members such as:

• Orthopedist or orthopedic surgeon (bones, skeleton)

• Otolaryngologist or ENT (ear, nose, and throat)

• Ophthalmologist (eyes)

• Pediatric endocrinologist (hormones, metabolism) 

• Cardiologist (heart)

• Neurologist or neurosurgeon (brain, nerves)

• Orthodontist (teeth)

• Pulmonologist (apnea and breathing) or a sleep specialist (sleep study)

• Nutritionist or dietitian (diet, weight)

• Medical geneticist (achondroplasia diagnosis, ongoing care, and guidance) 

• Occupational therapist to help develop skills to assist with everyday activities

• Mental well-being team member -- such as counselor or therapist -- for emotional support and to help your child with their feelings and social skills

You and your child's team can work together to develop a care plan to meet their current needs, and to help anticipate their needs as they get older. This can include ways to help manage any complications, as well as coordinating your child's care across the different team members they see. Ways to help improve your child's quality of life and take care of their mental well-being can also be important parts of their plan.

Life may come with some unique challenges for children who are living with achondroplasia. But with the right healthcare team in place, you can create a plan to get your child the support they need to thrive now and as they grow up.

Preparing in advance can help when you speak to your child's doctor and healthcare team. Questions you can ask can include:

• How can we monitor my child's health and development?

• What complications may happen, and how can we manage them?

• What other healthcare team members or specialists should we see?

• Are there any tools or special accommodations available to make tasks and daily life easier for my child?

• What should I do if I or my child feel stressed or depressed?

• Is there a support group I can join?

• Where can I find more information and resources?

Congratulations!

You have successfully completed the program Life With Achondroplasia: Proactively Working With Your Child's Healthcare Team.

View Additional Materials on this topic that you may find useful:

Achondroplasia

About Achondroplasia

Achondroplasia -- National Library of Medicine (NIH)