Ella’s Story

My beautiful daughter, Ella James, was born on August 12, 2012.  7lbs 1oz of cute, cuddly perfection. My husband Michael and I were overjoyed. Ella was the first grandchild of my in-laws, Mike and Marylou, and the first granddaughter for my parents, Jim and Linda. Let the spoiling begin! Little did we all know, our lives were about to drastically change.

We had been home with our new baby girl for just two days when we got a call from Ella’s pediatricians’ office. They said one of Ella’s newborn screening tests flagged a possible problem and we needed to come in. After what seemed like hours with no answers, we were sent off to Boston Children’s Hospital for blood work. My mom came with me. We were quickly greeted by a nurse asking if Ella had shown signs of seizure, if she was vomiting or lethargic. I could see the urgency on her face and it seemed like we were cutting in front of everyone else in the lab waiting room. Even at this point, I still didn’t know what they were even testing for and honestly there was no doubt in my mind that it had to be a mistake; a false positive. We would re-test and be sent right home.

The lab tested Ella 3 times and all 3 times the test returned a positive result. I felt like I couldn’t breathe. Ella was quickly admitted to the Neonatal Intensive Care Unit (NICU) that afternoon at 5 days old and was diagnosed with a Urea Cycle Disorder called Argininosuccinic Aciduria or ASA. They began Ella on a special rescue medicine to bring down her ammonia level. Thankfully she responded well and her level came down fairly quickly. We were in the NICU for 10 agonizing  days. She was hooked up to two different IVs and was constantly being stuck with needles for ammonia draws on every spot on her little body you could possibly imagine.

We finally took our baby girl home with an entirely new life than we ever anticipated. Ella was put on special medical formulas that had to be precisely measured with a gram scale. Her intake had to be tracked to the milliliter in order to keep her metabolically stable. She would need enough protein to grow, but not too much to make her ammonia level rise. She would also be put on 2 different medications to manage her condition. Any time she caught a virus or bug she would stop eating and that would land us in the hospital. Ella would later be hospitalized four times before she was four months old. More than most children would be in a lifetime.

As Ella got older, it became harder and harder to manage her medications and formula intake. We would chase her around the house with syringes full of either formula or medicine, trying to get her to drink them. We decided to place a g-tube in Ella’s stomach when she was 2 to aid in the management of her difficult diet.

In November of 2014, Ella was listed for liver transplant at the recommendation of her doctors. A little over 4 months later, on March 19, 2015, Ella received her new liver and has done very well. She is now 11 years old and is the funniest, cutest and fiercest girl I know.

Sure, this story has sad moments – but it is a story with a happy ending. Ella’s disorder was diagnosed early enough to be treated and managed. And that is because, just 3 years earlier, the Dinon family signed an optional waiver for additional testing on newborn screening when they had their daughter, Sophia. This test caught Sophia’s ASA which made the testing mandatory in the state of Massachusetts. This test saved Ella’s life. Sophia saved Ella.

We came to know the Dinon family through our doctors and, strangely enough, through a mutual friend and family member. It is like we were put into each other’s paths for a reason. They have become one of my family’s closest friends and I don’t think we would be where we are today without their guidance, love and support. This foundation is so very dear to me, as is the Dinon family, and it is an honor to have Ella’s story here to help others in similar situations and to raise awareness of Urea Cycle Disorders. I pray that our work someday will contribute to finding a cure so no other child suffers from this disorder.

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