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MACKENZIE - Spondyloepimetaphyseal Dysplasia (SEMD)

My name is Mackenzie, I am 17 year old; I go to school and take part in many activities outside of school.  I also have a passion for acting and theatre. I have been in several plays and musicals, both inside and outside of school and I am currently taking acting classes and voice lessons. I also have two horses that I love to ride and care for. I was born with a rare type of dwarfism called Spondyloepimetaphyseal Dysplasia (SEMD). This long word basically means that I am short and have some problems with my joints; in fact I stand exactly three feet tall.

When I was 18 months old, my parents finally found out what type of dwarfism I have. Until then, my diagnoses kept changing because doctors were not familiar with the form of dwarfism that I have because it is so rare (less than 100 known cases).  In fact, up until this time, none of my doctors expected me to survive.  They had me diagnosed with several types of “lethal” dwarfism before finally deciding on my current diagnosis.  Just before the age of two, I had my first surgery - a cervical spine decompression and fusion. Before this surgery, I was unable to sit up on my own or support my own head. Thanks to my amazing doctors at Alfred I. DuPont Hospital, my neck is now stronger then one of an average person. When I was in first grade, I had my second surgery - a bilateral hip de-rotation and reconstruction that allows me walk without tripping or falling.    

I do everything possible to show the world that little people such as myself can do whatever we set our minds to, and that we are just like everyone else. Of course there will always be a few people who are a little less than supportive, but I remind myself that those people do not even know me. Those people’s opinions do not matter to me.  I simply smile and keep going, because I know that as long as I am happy with who I am, then it does not matter what anyone else has to say.  

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