Kristen Earl MS, OTR/L

Jeff and I met about nine months after I graduated from college and I was working for a medical company. We became friends and then started dating. We were engaged in about nine months and married almost one year later. We spent the first three years of our marriage working, making money and traveling. Then, our blessing was born and life changed.

Kaylyn was born in November of 1999 after a fairly normal pregnancy. She was delivered via C-section after 21 hours of labor. Kaylyn was 6 lbs. 14 oz when she was born. She cried very little at delivery, didn’t latch on with breast-feeding and had jaundice. At 2 ½ weeks old she went into intensive care with RSV. While we were in the hospital, her first UTI (bladder infection) was discovered. It was the first of many.

Kaylyn was diagnosed with Chromosome 18p- when she was seven months old. We had genetic testing done because she was not growing well (she had fallen off of the growth chart). It was a tough time for us, but we jumped in with both feet. We immediately went home from our doctor’s appointment and found the registry on-line. The Registry has been wonderful in helping our family.

At eleven months old, Kaylyn started speech and physical therapy. She has since graduated from both speech and PT. We also started using a catheter to empty her urine every 3 hours. It seemed like we were always discovering something new those first few years.

We started Kaylyn on growth hormone when she was 1 ½ and she stopped growth hormone just before she turned 15. She gained a lot in height, weight and muscle tone with growth hormone. Kaylyn was also diagnosed with sacral agenesis, which means she is missing most of her sacrum and coccyx (spine). Because of this, she has neurogenic bladder (needs a catheter to urinate) and a nightly enema. She also wears AFO leg braces to help her walk.

Kaylyn is doing well in school. She is in high school in a self-contained classroom. She does very well in this setting. She has all A’s again this year! Kaylyn loves school and is always learning. She comprehends at a middle school/high school level but only reads at a 3rd grade level. She is shy but has a good group of friends. She transitioned from middle school to high school very easily. Kaylyn skis and does gymnastics with Special Olympics. She also participates in horseback riding and goes to camp for a week alone in the summer. She volunteers at the SPCA and next year wants to be in the high school musical. Kaylyn has a service dog named Roden whom she loves.

Our daughter loves to ride horses, play with our cats and dog, read books, dance, sing, swim and spend time with her grandparents. She tries to be a good helper for me and a good role model for her brothers. She is an incredible child and we love her very much.

With a lot of love, patience, money and research Kaylyn is becoming a fantastic young lady! She knows her own mind and what she wants. She would like to train dogs for her career and live with her parents until she is 30 when she plans to move out!