Mukilteo girl with rare disease defies worst fears
It's what's for breakfast for 7-year-old Ava Kaiser.
And for lunch. And dinner.
Ava drinks three quarts of formula a day.
"Gross stuff," said Ava, scrunching her nose.
It's liquid gold for the Mukilteo girl, who has a rare genetic metabolic disorder.
"I don't know how to spell it," Ava said. "I can just recognize it. Phenylketonuria."
Fen-l-kee-toh-noor-ee-uh. It rolls off her tongue, even with a missing front tooth and a wiggly incisor. It's called PKU for short.
Ava lacks an enzyme to break down the amino acid phenylalanine, a protein found in everything from meat and dairy to pasta and nuts.
The excess phenylalanine accumulates in the bloodstream and can cause brain damage and neurological problems. There is no cure, but it's treatable by diet.
"Before they discovered the disease, it led to severe mental retardation," said Ava's mother, Kristin Temperly. "They started out as beautiful babies and later had to be institutionalized."
Since the late 1960s, PKU has been on a panel of genetic diseases that all infants are tested for at birth.
Of 84,652 babies born in Washington in 2011, only six were diagnosed with PKU.
Both parents must carry the recessive gene for a child to have PKU, but it's not a given. Ava's older sister, Mackinley, 9, doesn't have PKU. Neither do any family members on either parent's side.
That's why the parents were flabbergasted when the routine newborn blood prick on Ava's heel came back with a diagnosis for a strange 7-syllable, 15-letter word that would change their lives.
"They told us it was manageable," said her father, Dave Kaiser, 50, engineering manager for Northshore Utility District. "I didn't get too excited. I said, 'We'll just figure out how to deal with it.' "
By contrast, Ava's mom, a Boeing software programmer, feared the worst.
"I thought, 'How is Ava going to go to birthday parties? How will she participate in the world? She is going to be ostracized,' " Kristin, 42, said.
"I went into postpartum depression. I required medication for four months. I have no history of depression."
The parents credit the state's PKU support network with providing hope and reassurance.
"This 12-year-old girl with PKU showed up at our doorstep, with flowers, in the height of my depression. She was so beautiful and normal and healthy," Kristin said. "Ava is on the volunteer list to do this."
"I am?" said Ava, eyes widening.
Ava already educates her classmates at Columbia Elementary School, where a fridge in her classroom keeps her formula cold.
"I can't have bread. I can't have rice. If it's chocolate, I can't have it," Ava said. "I can't have seafood. I can't have animals."
"I feel bad for her because she can't have chocolate," her sister said.
Ava's formula, made by Enfamil giant Mead Johnson, provides most of her daily nutrition. Her parents pay a monthly copayment of about $300 for her allotment of 24 cans of the Phenyl-Free 2 powdered mix.
In past decades, PKU children were taken off the formula around Ava's age, when the risk of retardation was over, but they developed issues with attention, learning and memory.
Without a cure, Ava will be guzzling formula for many years to come.
"It's her diet for life," Kristin said.
Still, a girl's got to eat.
Ava can have 5 ½ grams of protein a day. For her parents, it means constantly scrutinizing labels and doing the math on every grape and gluten-free cracker she puts into her mouth.
A medium apple has one-third of a gram of protein. Two dill pickles is a gram. By contrast, a handful of peanuts would wipe out an entire day's food quota.
"She can't start eating things that are relatively high in protein," Dave said. "It would destroy her metabolism."
Try explaining that to a kid.
"She was very frustrated one day because she couldn't have something her sister was eating. She said, 'Dad, why did you and mom make me like this?' " he said.
"It's kind of tough."
Now Ava understands, but that doesn't mean she likes it.
"I hate PKU. It is stupid. Bad. Not fun at all," she said, pouting her lips and folding her arms in typical 7-year-old drama.
Her discontent is a fleeting act. The next minute she's zipping across the front yard with a soccer ball.
"We all have our issues, our crosses to bear. That is hers," her dad said. "This is something Ava has to live with. Ava has a disposition that is going to serve her well. She is very compliant. She is accepting. If it can happen to any kind of kid, it is better to have a kid with her positive attitude. "
Ava is at the top of her game.
"I like to play soccer. I actually like story problems. And math," she said. "I like to be fashionable."
She's chic in glittery skirts or baggy soccer shorts as she flits around the neighborhood doing her thing.
"She's a social butterfly," her dad said.
Before the demands of sports, friends and homework, Ava went to the PKU clinic at the University of Washington each month. Her parents now do the monthly blood prick to test her phenylalanine levels. Her Everett Clinic pediatrician handles routine care.
"My mom wants me to find a cure for PKU and be a doctor," Ava said.
Maybe so, but Ava has other plans.
"I want to be a dolphin trainer when I grow up."
Roll of the dice
Dave Kaiser and Kristin Temperly met on a hike with mutual friends on Labor Day Weekend in 1997.
Somewhere along that rugged 16-mile trek on Mount David, he started to like her. She liked him back.
They later learned there was more chemistry between them than they thought. Both, it turns out, were carriers of an autosomal recessive gene for phenylketonuria, an inherited disease that afflicts 1 in 15,000 babies.
Carriers do not have PKU because they have one normal copy of the gene and one altered copy. Having one copy avoids the disease.
Both parents must be carriers of the gene for the baby to have PKU. For each pregnancy, it's a new roll of the dice:
There is a 25 percent chance that the baby will have PKU.
The baby has a 50 percent chance of being a carrier, and therefore won't have the disease.
The baby has a 25 percent chance of not being a carrier (two normal genes), meaning the baby will not have the disease or be a carrier.
Due to the rarity of the disease presenting, most people are unaware they are carriers when they start having children, and a newborn screening test comes back positive.
About 1 in 50 people in the general population are carriers of PKU. It is more common in people of Northern European ancestry.
The chance that two carriers will mate is only 1 in 2,500.
It's amazing Dave and Kristin ever made it that far.
Cooling off over beers after that sweaty mountain hike some 13 years ago, Dave, a mellow dude from Idaho, tempted fate by using his best pick-up line on the classy lady from Wisconsin.
"I told her she smelled like an antelope," he said.
Jan Garretson has seen what happens to babies born with PKU.
"They grow up to reach their full potential," said Garretson, a social worker since 1974 at the Cristine M. Trahms Program for Phenylketonuria at the University of Washington.
About 200 children and adults with PKU get a range of medical, nutritional and social work services.
The clinic opened in 1968, around the time infant testing for PKU was mandated.
The harmful effects of PKU can be prevented if a diet low in phenylalanine is maintained.
"It's clear that this is a lifelong commitment," Garretson said.
For more information on PKU
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