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Living life to the fullest despite being diagnosed with cystic fibrosis: Emily's story

June 11, 2014

Emily is a vibrant, happy-go-lucky 10-year-old. With white-blonde hair, sparkly blue eyes and a contagious grin, she’s likely to steal your heart as soon as you meet her. To look at her, you’d never know that she has been fighting a serious illness her entire life.

Prior to Emily’s birth in 2004, her parents Brad and Kathryn, went for their 20-week ultrasound, and were excited to find out the sex of their firstborn child. They weren’t able to determine the baby’s sex that day, but they did receive some concerning news. Some of the baby’s internal organs looked abnormal; the ultrasound showed an echogenic bowel and enlarged liver. After more tests and consultations with specialists, there weren’t any definitive answers.

Brad and Kathryn found out several weeks later that they were having a baby girl, and their doctors encouraged them to set aside their fears. Based on the information available, it was likely that their little girl would be perfectly healthy. When Emily was born, she did in fact appear healthy. However, Brad and Kathryn couldn’t quite shake the lingering questions. They asked their pediatrician in the hospital if they could have Emily tested for cystic fibrosis (CF). They knew from their research that cystic fibrosis, a disease that affects your lungs and digestive system, can produce an echogenic bowel in prenatal ultrasounds.

Their doctor again reassured them, saying that cystic fibrosis is a rare disease and it wasn’t likely to be the case since neither Brad or Kathryn had a family history of this genetic disease. They took their baby girl home from the hospital, exhausted but elated to be starting this journey as a new family.

When they took Emily to the pediatrician for her first check-up a week later, her parents were told she’d lost too much weight. They were instructed to supplement her with formula feedings, and for the next three weeks they went back and forth to doctor’s visits trying desperately to help her gain weight. Again, they asked whether she could be tested for CF, but again were reassured that this was not likely the explanation for Emily’s problems. By four weeks of age, Emily still hadn’t regained her birth weight. In medical terms, this was called a failure to thrive. For her parents, it was a frustrating battle; there were plenty of problems but no answers.

At four weeks old, Emily developed a fever, and she was admitted to the hospital. While the struggle continued to figure out what was wrong with her, her parents asked her doctors for a third time whether she could be tested for cystic fibrosis. But this time, the answer they received was different. Dr. Ira Pinnelas was their attending physician, and his perspective on their quest for answers for their daughter forever changed their lives.

Kathryn vividly recalls the analogy that Dr. Pinnelas gave in response to their request. He said:

“I’m like the coach of the football team, but you’re the owner of the team. Even though I’m going to tell you what I think needs to happen, if you say you want this done, I have to do it because you’re the owner. I don’t think that she has CF, but if you want her tested, then let’s test her.”

Emily underwent genetic testing for cystic fibrosis and was released from the hospital. Two weeks later, her parents received the phone call that confirmed their worst fears. Emily had cystic fibrosis and would be fighting this disease for the rest of her life.

Receiving such a diagnosis was life changing for Emily’s parents, but it provided answers to many of the questions they’d been asking. It also allowed them to seek the care their child desperately needed. Emily was a six-week-old weighing only seven and a half pounds, with her newborn clothes hanging limply from her tiny frame. Within two weeks of starting the medication she needed, she had big, chubby cheeks, and her parents were delighted.

Today, Emily is a 10-year-old who is poised to do great things. She is spunky and energetic, smart and driven. She is a voracious reader, and she excels academically. She loves to play soccer and loves to swim. Her disease isn’t holding her back from anything. Although cystic fibrosis has placed her in doctors’ offices for more hours than she’d like to count, her illness has also shaped her in positive ways.

She possesses an unusual ability to persevere in the face of hardship, to fight even when she wants to give up, to keep going when it seems impossible. She has an incredible capacity for compassion, and a special understanding for those who might be a little bit different than the rest of us. She’s never met a stranger, and she opens up her heart to just about everyone she meets.

She relies on her faith in God to understand her illness and what this disease means in her life. It is this faith that she holds onto when there aren’t any answers, and it’s the reason she can go forward in life without fear. She also has an incredible gift in the form of a family who supports her, talks openly with her about the challenges, both physical and emotional, that her disease brings and is preparing her to go out into the world to fulfill her wildest dreams.

She may have started life with a diagnosis of failure to thrive, but there’s no question about it, she is thriving now.

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