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DIANE  - Spondyloepiphyseal dysplasia (SED)

My name is Diane, I’m 29-years-old and live in Honolulu, HI. I work at the Executive Office on Aging, specifically with the Elder Abuse Coalition. I am currently pursuing a Masters in Social Work at the University of Hawaii at Manoa. I’m also a blogger and a corporate speaker.

I have Spondyloepiphyseal dysplasia, more commonly referred to as SED. SED is a less common form of dwarfism that affects approximately one in 95,000 babies. Sphondylos is a Greek term meaning vertebra. Epiphysis refers to the ends of long bones that are adjacent to the joints. Therefore, spondylo-epiphyseal dysplasias is a condition that involves both the spine and the ends of long bones.

There are many types of spondyloepiphyseal dysplasias, including SED congenital (SEDc) and SED tarda. SEDc is caused by a change of the gene coding for Collagen Type II (COL2A1) found on Chromosome 12 (1). Type II collagen is a structural protein present in the intervertebral discs, cartilage, and the eyeball.

 I’m 3’4” and have a short trunk and neck. Although I can walk without assistance around the house, I have to use a walker when travelling longer distances. Unlike others with SED, I have a curvature in my back that results in chronic lower back pain when I walk. However, regular exercise like swimming helps quite a bit in alleviating the pain.

Other features of a person who has SED may include being barrel-chested, have a short neck, shortening of arms and legs which when compared to the trunk may appear long. SED may also include forward bending of the lower spine known as sway back and a rounding or hunching over of the back known as kyphoscoliosis. A decrease in muscle tone or strength and loose joints is common along with bowing of the legs outward so that the knees turn to the sides and club feet. People who have SED have a disproportionately small pelvis, set back behind the frontal plane of the shoulders. Patients tend to walk with their head hyperextended and behind their shoulders.

Living with SED comes with some challenges. For instance when I drive, I use hand controls and sit on a modified car seat. At home and work, I use step stools in the kitchen and bathroom. Other than that, I live a pretty standard lifestyle. I enjoy the same things everyone else enjoys—fulfilling conversations, trying new restaurants and appreciating the great people in life. While I do come across several ignorant people who are cruel, I’ve learned that it’s due to their own discomfort with diversity. It’s not my responsibility to feel a lack in my life because someone else doesn’t have the capacity to stretch outside of his or her comfort zone.                               

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