Experience stories

A Closer Look at SMC1A: Katie


Katie is 28 years old and was diagnosed with CdLS at three months old, but was nearly 20 years old when she was identifed as an individual with the SMC1A mutation.

At birth, she was 20 inches long and weighed 8 pounds 6 ounces. Today she is 5’ 1” and weighs 150 lbs.
For the first year, it was very difficult for Katie to gain weight because of her severe reflux. At the time there were no medications that worked to control it and the doctors would not perform a Nissen. Like many infants, she had a Nasogastric (NG) tube, but when it proved to be more of an irritant, we switched back to a bottle thickened with cereal. We were dealing with her reflux, and by the age of four or five, we thought she had ‘outgrown’ it. Learning about “silent reflux,” we now know this was a mistake. Today, we manage her reflux with Prilosec.

From infancy, Katie was sickly, and was hospitalized a few times and had chronic sinus infections. Following a particularly serious sinus infection, she had surgery at age 12. Her health improved dramatically after the surgery and she has not been hospitalized since.

Katie started using words when she was about two in conjunction with the use of “signs,” words like “cookie” and “more.” Despite her language limitations, she does hold a job and is currently working as a greeter at a local hair salon.

Our biggest concern is finding a suitable living arrangement in the future. While we’d love to give her greater independence, we must be constantly vigilant. She went through a period of escaping from the house, and if no one is in the kitchen, she’s quick to get into things and make a mess. She likes helping with cooking and wants to help with other chores. She’s definitely trainable, and we look forward to her gaining more independent living skills.

Find other pages that share the same topic as this page SMC1A3 back to overview
Katie’s mom, Mary
Katie’s mom, Mary

but was nearly 20 years old when she was identifed as an individual with the SMC1A mutation

Page history
Last modified by Gerritjan Koekkoek on 2021/04/08 13:49
Created by Gerritjan Koekkoek on 2015/11/06 17:03

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