PKU Hasn’t Stopped Elisa From Living Her Dreams

By Nancy Maddox

When Elisa Skidmore got married last summer, she had a few more details to figure out than most brides. She brought a special medical formula to the temple in a cooler, so she could drink it after the ceremony. Her husband brought her one of her favorite foods—avocado sushi rolls—and her aunt catered the reception, being sure to include a low-protein version of basil pesto pasta for Elisa.

Food, however, was a minor consideration. As Elisa wrote on her blog, “Who eats at their wedding anyway!”

Elisa Skidmore has phenylketonuria (PKU)—a genetic disorder that renders the body unable to break down certain proteins, necessitating a lifelong, low-protein diet, without which a person can suffer irreversible brain damage. And she has not let it stop her from doing anything.

She is a self-described singer, philosopher, salt-addict, pianist, poet, Spanish-speaker, Mormon, nature-lover, and now, wife.

But Elisa’s story properly begins 24 years ago, when she was born in Kent, Washington. Her mom, Krista Lee, remembers sitting at home with her days-old baby girl, admiring her tiny features and “cooing over her.” The reverie was all too brief, broken by a call from a physician at the University of Washington Medical Center (UWMC), who asked, “Are you sitting down?” and then told Krista Lee that Elisa’s newborn screening test had come back positive for PKU.

“I could tell it was serious,” said Krista Lee. She bundled her firstborn into the car and her parents drove her to the UWMC. On the way, Krista Lee’s mother, a speech therapist who had worked with children with PKU, said, “There’s a special diet. I think your baby is going to be fine.”

A short while later, Krista Lee said, “We walked into the medical center, and the doctor smiled at Elisa and said, ‘Start saving for college.’ I had great relief when he said that.”

For a long time thereafter, Krista Lee and Elisa were regulars at the University of Washington’s monthly PKU clinic. While Krista Lee sat in a PKU parents’ support group, the growing Elisa joined other children in a classroom to learn all about yes foods—fruit, vegetables, rice—and no foods—meat, milk, eggs. “The children made something they could all eat,” said Krista Lee. “They made it fun.”

Krista Lee, for her part, learned a lot from the other parents. “I remember there was a mother who said, ‘I made a mistake. I gave our child a half a piece of bacon.’ And then another parent said she let her child lick an ice cream cone. That was a nightmare for those parents. I realized that if Elisa never tasted [the foods she couldn’t eat], it would be so much easier.”

“I want you to know,” said Krista Lee, “I realized right away that it didn’t matter what was on the dinner table. It mattered who was around it. This food that she had to eat that was different from our food, it didn’t matter. Dinnertime was fun. It was a wonderful time.”

In fact, she said, “I think our family ate so much more healthily than we would have. I always served a vegetable and fruit at dinner because Elisa could eat that. I’ve often told her, ‘Thank you for making us so healthy.’ I realized we can’t worry about what she can’t eat. She’s so bright and talented and wonderful.”

In April 2012, Elisa graduated from Brigham Young University (BYU) with a degree in public health. Last summer she was married in Seattle. And this summer she will give birth to her first child, a baby girl.

She said, “My parents committed to the [PKU] diet. There was never any wavering. Those routines really shaped me in how I look at PKU. So I’ve always just stuck to the diet. They didn’t feel sorry for me. It didn’t hold me back. I took piano lessons, I took voice lessons, I was in choir. I did all the normal things. My last year at college, I was in BYU Singers, an elite group, and we got to tour England. We performed in many cathedrals, culminating in a concert given in St. Paul’s in London.”

The next chapter of Elisa’s life has yet to be written. Her new husband, Jeffrey, has applied to several PhD programs in mechanical engineering. Said Elisa, “We don’t know where we will go yet: New York, Arizona, Colorado…”

One thing, however, is certain: “Pretty much the next phase of my life is going to be dedicated to being a full time mom for my children.”

Elisa doesn’t know if Jeffrey is a PKU carrier. If he is not, there is virtually no chance their baby girl will have the disorder. If he is a carrier, there is a 50% chance with each child.

“As far as raising a baby with PKU,” said Elisa, “it would take some extra effort, but it’s not something that scares me, because I grew up with it and it’s fine.”

Elisa is being monitored throughout pregnancy by a PKU physician and dietician who check her phenylalanine levels weekly. She said, “It’s very important for women [with PKU] to be managing their diet when they’re trying to get pregnant, because excess phenylalanine can harm the baby. For me, it wasn’t really an issue, because it’s how I always do it. I didn’t have to change anything.”

Said Elisa, “PKU can’t stop you from living your dreams. I’ve achieved some my dreams—singing in a choir and graduating from college and getting married—and I’m looking forward to having a baby and someday a house with a garden and lots more kids…  I’m excited for life.”

In 1988, the year Elisa was born, the Washington Public Health Laboratories performed newborn screening for 70,863 infants. Seven, including Elisa, were diagnosed with PKU.