By Teri, United States, January 16, 2014
For two years our lives have been anything but normal. We fought and advocated for our child since the day she was born. After countless hours spent in doctors offices, hospitals, and therapy sessions we finally got the answers we were looking for. Genetic Testing revealed our Kenzie has a extremely rare chromosome anomaly. It is so rare there are only 5 documented cases in the world of similar duplications and makes Kenzie the 6th. Having a rare chromosome disorder means there is not a special name or awareness month dedicated to it. Kenzie has a duplication of the long arm of her 19th chromosome. The name given to hers is 19q duplication. She seems to have the largest duplication of all the documented cases but also seems to be the least affected. Some minor health issues and significant developmental delays are the obstacles we have faced so far. There is not much documentation on what we can expect for her future since she seems to have surpassed all documented milestones so far. To us that makes her blessed and her potential development limitless. These accomplishments did not come without struggle and future ones will not either. Kenzie has to work harder to achieve the same goals of most children her age but doesn't seem to let that stop her or dampen her spirit. Everywhere she goes she touches peoples hearts and puts smiles on faces. Most don't even know there is something wrong with Kenzie because she appears so normal. We are learning to love our new normal.
I have spend several days thinking of ways to raise awareness for "Rare Disease Day" that takes place February 28th 2014. This is a day dedicated to all the disorders that do not have a recognized organization. I have reached out to our local TV station as well as The Ellen Show in hopes there would be interest for a media segment to help spread awareness. There are so many others more severely affected and my family feels it's our mission to be a voice.
Most children are not able to get the medical attention they need as well as therapy services once they reach school age. We are so lucky Kenzie does not require much medical attention currently but definitely did in the past. Orthotics and gait trainers are very expensive and we were able to get services through the Missouri First Steps program. Weekly Therapy services have allowed Kenzie to progress so much. She has received Occupational, Physical, and Speech Therapy through their in home program. She started walking just a month after her second birthday without assistance and we hope her verbal communication will soon flourish. She is currently non verbal but has use of about 40 words. We hope to have her start at a local Early Learning Center by September. Our goal is to document Kenzie's development so the next child that receives a similar diagnosis can have answers to all the questions we had.