Natalie

Age: 5
Duplication: 4p16.3q11 & 7p22.3p22.1
Location: Hays, KS (Half-way between Denver, CO & Kansas City, KS/MO)

When strangers meet Natalie, our second child, they quickly notice her sense of curiosity, loving nature and infectious laughter. When we first welcomed Natalie into our family five years ago, her pediatrician noticed some of her blood work, vital signs and facial features were unusual enough to send her on the first of three life-flights from our hometown of Hays, KS to Children’s Mercy Hospital in Kansas City, MO. Her first flight took place on Thanksgiving Day 2009. For our family, that day wasn’t a celebration--as we did not know about Natalie’s T4P chromosome re-arrangement (4p16.3q11 & 7p22.3p22.1) when she was born. Each day of her life since has been filled with thanksgiving as we celebrate and cherish her life and the amazing challenges she has overcome during her short time with us.
 

  
Natalie has battled through many health concerns, some quite common to T4P and others not as common. Natalie’s primary health concerns at birth were a small airway and aspiration of liquids which led to Natalie receiving a tracheostomy at the age of 5 months. Prior to receiving her trach, she was life-flighted to Children’s Mercy two additional times in severe respiratory distress. These were incredibly challenging and difficult months for our family. After Natalie received her trach, we were able to settle into a “new” normal at home in Hays, which included nurses and care staff scheduled almost around the clock to help us care for Natalie.

  
Because of the severity of Natalie’s health concerns, her development and what the future held for Natalie wasn’t something we were able to think about too often. She wasn’t able to focus on development, as the act of breathing was the primary function her small body focused on for a couple of years. Other health concerns Natalie manages are: vision deficits, chronic lung disease, stomach motility issues, cranio-facial abnormalities and sleep disorders. In true Natalie fashion, over the months and years as she has grown stronger and healthier, she has been writing her own developmental chart. Miss Natalie sat by herself at the age of 15 months, began crawling at the age of 2 and took her first independent steps just after her 4th birthday. Natalie is now running around our house and her special education preschool – where she loves learning, playing with her friends and meeting new people! She will begin Kindergarten this fall and will be spending time in a functional special education classroom and homeroom class with her peers.

  
Our Miss Natalie is a very loving, happy lady who is an amazing problem solver. Although she is non-verbal, Natalie is quite a pro at communicating what she wants. When she wants something, she’ll just figure out how to get it. If it means opening the refrigerator, to climbing and crawling on the kitchen table to just leaving the house to play with our dogs she will do it. She keeps her mom, dad, big brother and all those who help us with Natalie on our toes! She uses a touch device to communicate and we are always working on her verbalization. Natalie loves to “chatter” and we are hopeful soon she will be saying words deliberately.

  
For our family a hard part of Natalie’s special needs has been not having a support network of others who understand or know what T4P is. When we were given Natalie’s diagnosis, we were told around 50 or so people worldwide probably had T4P and that no research on the chromosome rearrangement existed. Our T4P facebook group has been a lifeline—to connect virtually with others who have been through similar experiences has been amazing. Our doctors have allowed us to use other T4P family testimonials to develop treatment plans for Natalie. As we look to Natalie’s future, our hope is others value, love and include her despite her health and developmental needs. She is an amazing little lady who battles through life each day with an amazing attitude. Her spirit and love for life and others is so infectious – she is always ready and willing to give those she meets a smile, laugh or hug!