Phenylketonuria (PKU) Pediatric Patient Stories

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Caroline Queally

Hello, my name is Caroline Queally.  I am 10 years old and I have Phenylketonuria (it’s much easier to say PKU, for short). PKU is a rare medical condition that can seriously affect your brain development and muscular growth if you eat foods that are too high in protein.

When I was just 6 days old, my mom received a call from Dr. Deborah Marsden of Children’s Hospital.  Dr. Marsden explained that as a result of the heel prick blood test that I had at the hospital where I was born, this newborn screening test discovered that I had a condition that affects only 1 in 15,000 babies in the United States.  

From that point on, my parents and I visited Children’s Hospital once a week for the first year of my life.  That’s when I met one of my heroes, Dr. Harvey Levy. Dr. Levy told my parents that I would be just fine as long as I followed a very strict diet and drank a very special kind of milk. 

Because I eat the right foods and drink my milk, I do very well in school and I am just like every other kid.  I attend a French Immersion school, and have been fluent in French since I was just 6 years old.  PKU doesn’t stop me from doing my favorite activities such as surfing, playing the flute, acting in theater, visiting Disney and playing with friends.  I also love to watch the Food Network, and have learned to change most recipes to be PKU-friendly. 

Over the years, Dr. Levy has become my very good friend, and in fact, I now help him teach a Genetics class at Harvard Medical School!  I love sitting in front of the class with my parents and Dr. Levy.  It’s fun telling the students all about PKU. They have some great questions, and I hope that one of those students helps to find a cure for PKU someday.  

Children’s Hospital has helped me so much.  Besides Dr. Levy, I have a wonderful team of nutritionists including Fran Rohr and Ann Munier who are really good at making sure I am eating the right things and drinking the milk that helps me to develop properly.  I love visiting Children’s Hospital now at least once a year.  Everyone is so kind, and I even don’t mind getting my blood drawn by Nina who has also known me since I was just one week old! 

In a way, Children’s Hospital is just like family to me.  If my mom didn’t get that phone call when I was just a few days old and without the care I have received since at Children’s Hospital, I wouldn’t even have been able to write this story (and now I can even write it in French.   Words cannot express how very grateful my family and I are to Dr. Levy and the rest of our "family" at Children's Hospital.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

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