Utahns coping with rare diseases raise awareness on a rare day

Posted at 5:47 PM, Feb 28, 2016
and last updated 2016-02-29 09:50:25-05

HOLLADAY - Thousands of people all over the world suffer from rare diseases and on February 29, a rare day only happening once every four years, the country will observe Rare Disease Day.

Local families across the state will join together to raise awareness about rare conditions.

One Holladay mother, Amy Oliver, has been working hard to raise awareness about her children’s rare condition called PKU, or phenylketonuria. It happens when the body doesn’t break down proteins.

“If you don't catch the PKU early in life and start treatment right away, one of the amino acids found in protein builds up in their bodies and is toxic to the brain, and it interferes with development,” Oliver said.

She became an expert quickly after her now 8-year-old daughter Claire was diagnosed when she was born.

“When our pediatrician called to tell us Claire had a positive newborn screening test, I had no idea what they were talking about, and I asked them to spell it for me,” she laughed. “I have since come to learn how to spell it, but at the time, it's a very long word that is complicated to spell, and the reason you don't hear much about it is because it is so rare.”

Two years later, doctors told her there was a one-in-four chance her next child, Seth, would also be diagnosed with PKU.

“We got the ‘one.’” Oliver said. “I will say it was a little surprising that he got PKU, but we are very happy that the two of them can have that experience together as they go through life and will always have someone who really understands really what it is they are dealing with.”

The children have been learning how to prepare special meals for each other. They cook with some unique ingredients.

“We have to use wheat starch and xanthan gum, and we use coconut yogurt, apple cider vinegar as a vegan baking trick,” Oliver said. “We really had to learn a whole new way of cooking in order to make things that are appropriate for their diet.”

Amy started a non-profit group called IPAD, Intermountain PKU Allied Disorders Associations, that works in conjunction with NORD, National Organization for Rare Disorders.

“It helped meeting other people going through this rare disease, and learning from them and with them about what works best for them,”Oliver said.

She said cooking with her children has also brought about a lot of good habits.

“I also find that kids like to eat things better when they cook it with you,” Oliver said.

A Rare Disease Day celebration will be held Monday, February 29, at the Utah State Capitol Rotunda from 3:00 p.m. to 5:00 p.m.

For more details about the event, click here.

For more information about Intermountain PKU and Allied Disorders Association, click here.