Ellie

Age: Forever 15 months ( May 16, 2013 - August 31, 2014)

Duplication: 46,XX, der (15)t (4;15) (11.2;11.2) de novo

Lived in: Utah, USA and Nebraska, USA

On May 16, 2013 our precious daughter, Ellie Jane, was born and completed our family with a perfect 2 boys and 2 girls, but it quickly became apparent that things were far from perfect. It started with breathing difficulties which led to nurses and respiratory therapists hovering around Ellie, whispering about low set ears, wide set nipples, underdeveloped pinkies, an asymmetrical cry, and abnormal creases in her hands. Ellie was moved to the NICU and the pediatrician started adding to the list with more features that were concerning to him: her thick and flat upper lip, high arched palate, short and thick neck, clenched hands, low birth weight, and eating and breathing difficulties. He told us he suspected our daughter had a genetic disorder and that he was going to consult with a geneticist at the university. My husband and I went back to our room and cried together as we realized our beautiful daughter might not have the life we had dreamed for her.

The first two months of Ellie’s life were a complete blur that were spent in and out of the hospital with appointments, tests, and surgeries as we tried to help Ellie breathe and eat – two pretty important functions. We learned that Ellie had severe laryngomalacia (a floppy airway that would collapse and close off periodically) and she had severe reflux and chronic aspiration occurring.  At two months old it was determined that Ellie would need a tracheostomy and permanent feeding tube with a Nissen fundoplication. We were devastated. The day after Ellie got her trach she smiled at us for the first time. Suddenly we realized, now that she wouldn't have to spend all her energy just to breathe, she could finally begin to develop and thrive in a way she couldn’t before, and that is exactly what she did.

It was about this same time that Ellie’s genetic testing results came back and we were told she had trisomy 4p. The geneticist gave us an article on trisomy 4p and kindly told us this was all the information he had. I specifically remember asking him what Ellie’s life expectancy would be and he said that we could only wait and see, but the article he gave us made it appear that most children with trisomy 4p lived into adulthood. We didn’t know what Ellie’s future would bring, but we were determined to give her every opportunity we could to reach her full potential. We were so grateful when we found our wonderful 4p group and were comforted to know that early deaths did not appear to be common in the group. We felt confident that Ellie would live a full life and we got ready for the long haul.

Over the next few months we adjusted to life with a trach baby. Our insurance would not cover any nursing hours for us and the state waiver for trached children had a two year waiting list, so it was left up to me, my husband, and my mom to provide Ellie with the 24 hour specialized care that only the three of us were trained to give. This proved to be the most challenging aspect of life with Ellie. The trach made it so Ellie had no audible voice or cry, leaving her no way to get our attention when she needed something. This made it necessary for one of us to be with her every minute, day and night, making sleep nearly impossible. Despite the extreme sleep deprivation, our lack of nursing proved to be a blessing (I can only say that now in retrospect, at the time it was nothing but devastatingly hard) as our entire family, including our three older kids (ages 6,4, and2 at the time) all had to work together to care for Ellie. She became the center of our whole world and we all loved her dearly.

We battled frequent respiratory illnesses and pneumonias which were complicated by Ellie’s chronic lung disease, feeding difficulties and extreme fussiness due to sensitivities to every kind of formula we tried, frequent ear infections and chronic fluid in her ears causing failed hearing tests and resulting in ear tube placement, along with other medical issues that popped up along the way.

The one thing that Ellie never struggled with was her recognition and love for her family. She knew who we were and lit up with a giant, tongue filled smile every time she saw one of us. Her love for her family was matched only by her dislike of strangers. If someone other than our family walked into the room her face would scrunch up into a silent and adorable cry.  All of her therapists agreed that her very clear recognition and preference for the people she knew and trusted was a great sign of good cognitive function. She loved music, bubbles, crinkling plastic wrappers and paper, splashing in water, swinging, but more than anything the never ending attention she received from her brothers and sister.

Ellie had significant developmental delays, but in the months after her first birthday she had a huge surge in development. She became an independent sitter, mastered rolling around, began putting weight on her legs when we would hold her up, and even started showing signs of an early army crawl. She mastered how to use her hands despite her curved and tight fingers. She became an expert at grabbing things and never passed up an opportunity to clap. We started working with her on several signs and were so proud when she managed to independently sign ‘more’. By the time she was 15 months old she was roughly at the physical developmental level of a 6 month old.

On August 31, 2014 our sweet Ellie unexpectedly passed away due to complications of aspiration pneumonia. Not a day goes by that we don’t think about Ellie and wish she was still here with us, but our belief that families can be together forever and that we will be with her again keeps us moving forward. We are so grateful for every moment we got to have Ellie's happy smile in our home.

You can read more about Ellie’s story at bubblesforellie.blogspot.com