THE MEDICAL WORLD
As you have hopefully learned by now, one size does not fit all. While all Little People have short stature, they do not all look alike. Different types of dwarfism have different causes and different physical traits. (See Types of dwarfism to learn more.) Some Little People have proportionate short stature, and others have some disproportion with shorter trunks, and yet others have disproportion with shorter limbs. Because there are many different types and causes of dwarfism, there are different associated medical issues and orthopedic concerns (See Orthopedic section). For example, pseudoachondroplasia has a very similar name to achondroplasia, but there is a completely different cause and therefore very different medical concerns to monitor.
For a family navigating their child through the medical world, the first issue that comes up is diagnosis. Some diagnoses can be suspected in the second trimester with detailed prenatal ultrasound, but others cannot be detected until later in the third trimester, or more commonly after birth by x-rays. Some individuals are able to get a very specific diagnosis for the cause of their (or their child’s) short stature, but others can just be diagnosed with a name of a general group of skeletal dysplasias (small words like: spondylometaphyseal dysplasia, or spondyloepiphyseal dysplasia for example). Some have blood tests available to confirm the suspected diagnosis if needed; but as the genes for all the types of dwarfism have not yet been discovered, some are diagnosed just based on x-ray pictures and a clinical examination.
There is no “cure” or specific treatment for most types of dwarfism that are caused by a skeletal dysplasia. Many LPs take offense at those insinuating a cure is needed for them, and I can’t blame them. Little People, their families, and their doctors instead focus on preventing or treating the health issues that can be associated with their particular form of dwarfism. Some of the medical complications associated with dwarfism can require surgery. One needs to be concerned about vision issues (even leading to blindness) in some skeletal dysplasias but not others. Some dysplasias have associated hearing loss, but not all. Some should be monitored for hydrocephalus. Sleep apnea can be an issue for some – either central or obstructive. Some can have cleft palates needing repair. Many skeletal dysplasias need monitoring of their spinal cord, but it depends on the age of the individual as well as the diagnosis for exactly where and how the spine has a risk to be injured.
Age is another thing to keep in mind. Almost all types of skeletal dysplasias have a laundry list of medical issues to watch out for – but it’s important to remember that not all those issues happen at the same time, and they almost never all happen for the same person. Many of the issues are common “people problems” that may happen more frequently for some LPs (ear tubes with achondroplasia for example), and others are less common in the general population. Just like everyone should bring their child to the pediatrician for well baby check-ups, it is important that families are able to consult over time with someone in the medical field who is knowledgeable about the diagnosis and that knows the safest and best ways to stay a step ahead of any LP issues that may come up.
Additionally, because of their shorter stature and likely disproportion, children with dwarfism generally have different rates of meeting developmental milestones. This is to mean, he/she may roll over, sit up, and walk at an older age than average-statured kids. This generally is because the physics of their bodies are different. It might take them a little longer, but where there’s a will there’s a way, and they do figure out how to do it in their own time. There have been developmental expectation grids made specifically for achondroplasia, the most common skeletal dysplasia, to help pediatricians better understand when to be concerned if there is a delay, or if development is progressing at a typical pace.
Lastly, most people do not necessarily think about this, but obesity is a very important medical issue for people with dwarfism. A few extra pounds on a Little Person can be a lot harder to shed and can cause a lot more problems than a few extra pounds on an average-size person.. Besides all the medical problems of obesity (high blood pressure, cholesterol, etc.) extra weight causes stress on the back and joints, leading to pain and decreased mobility. Due to orthopedic issues, people with dwarfism can be limited in the types of exercises and activities that they can do, but it's very important for them to find safe physical activities that they enjoy to help stay fit lifelong.
Angela L. Duker, MS, LCGC
Genetic Counselor - Dysplasia Program