Our little peanut, Kylie Carlson, born June 8, 1998, is now 14. She was born two weeks early because the doctor was concerned she was not thriving. Her Apgar tests were normal. However, we found out that she had not stopped growing— it was just that she was growing slowly because of her disorder.
When Kylie was not hitting her milestones, we sought help when she was nine months old. After seeing every specialist possible, a geneticist was our last hope. Although we were told by the doctor that she did not anticipate finding anything, they proceeded with genetic testing.
Two weeks later, I was called by the doctor to tell me that Kylie remarkably had chromosome 13q deletion syndrome and was missing the band of the arm of the chromosome of q14.3–q22. The internet was just beginning to be a powerhouse tool at that time. However, finding information on this disorder was almost impossible. Two years later, I started a website for chromosome 13 deletion, so that others could find us. There is strength in numbers!
For the next few years, it was all about therapy. Kylie did not ever crawl and walked at the age of two and a half years old. Not crawling ended up being a real delay for other important skills in life: Kylie did not understand gravity and could not do basic skills like skipping, jumping jacks or crossing the body midline. With her low muscle tone, we were trying everything from physical therapy, private gym classes and Karate (as she got older) for focus. A challenging part of chromosome 13 deletion is for most of the children, they grow very slowly. Even now– Kylie is 14 and just hitting 59 pounds and 53 inches; she is just barely eligible to transfer out of a car seat.
When she was a toddler, there were always unexplained things she would do that I never understood. While playing, she would line up cars in a straight row. She would grind her teeth. She would “collect” rocks and sticks in the school yard. She would cringe at the sound of loud noises. After an evaluation with a specialist, we found out she had obsessive-compulsive disorder (OCD) and sensory issues. Most likely, her nervous system was compromised by her loss in the band of chromosome 13, which was just now re-evaluated, and we found out that she is actually missing q21.1–31.1. We have come realize, the science of determining millions of DNA is a very difficult thing to diagnose.
We are currently trying medication, in combination with therapy, to help with her OCD, but it is a struggle. Because of this disorder, she hoards everything: paper, food, toothbrushes– it is unlimited. Also, because of her nervous system being sensitive, she is overtly anxious. The way she counteracts this is by rubbing her clothes until they have holes in them. She ruins clothes daily.
Due to the medication she is on to alleviate her hoarding and to help her focus, she has trouble with eating. She is hungry all the time, which makes her hoard food. It is a never-ending cycle with no end in sight. She also has trouble reading because she is unable to track letters and words. Academics do not come easy for her either, because of all of her challenges. Her speech has a nasal sound to it– almost like a toddler. We have been to dozens of specialists, but we are still perplexed why she does this. She attends speech therapy in school.
She has an amazing sense of humor and a passion for animals. And we are very thankful that she has not shown any signs of seizures, hearing loss or many other possible medical issues.