2014 Best in Photography – Michelina Risbeck

TAR Syndrome

Thrombocytopenia-absent radius (TAR) syndrome is the absence of the radius bone located in each forearm and occurs during the development process in the womb. TAR is labeled as a mutation due to a change in gene RBM8A. This gene is responsible for providing instructions for making RNA-binding motif protein 8A. When the RBM8A gene has a mutation, the amount of protein cells reduce, eliminating at least 200,000 DNA building blocks from from the long arm of chromosome 1. When born, the infant must seek immediate medical care in platelet transfusion if their platelet count is below 80 x 10^9/L. These reduction are thought to cause problems in certain tissues, but there is no definite clarification to the specific signs and symptoms of TAR syndrome.

“TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 newborns.” My youngest brother is the one in one-thousand children who were unfortunate enough to inherit this disorder. He has the best situation since he has both of his thumbs intact, no heart or kidney problems, minor facial alterations, and no allergic reaction to cow’s milk. However, once fully grown, his arms will not pass his waist, creating further difficulties during his everyday life. It is already getting hard for him to put on his socks and shoes by himself.

For treatment, there is a process called splinting where casts are placed on the arms during infancy to decrease the amount of curving for better future functioning, but they will not look or function normally.  There is also a surgery for this disorder, but doing so limits full control of the wrist and there is always a risk when involving surgery.

Since TAR syndrome is rare and not all details are concrete, few doctors know how to look for this disorder and what to do if it occurs. If it wasn’t for my mother’s doctor who knew about this disorder, my little brother would have died. I love my brother and cannot imaging not having him in my life.

Further research in TAR syndrome needs to become a priority so this disorder can become more knowledgable, have better treatments, and even prevented during development.

Art is my way of spreading knowledge about TAR syndrome because images can give the most powerful message.