Most parents don’t worry about the routine neonatal heel prick that takes blood samples from their newborns.
Kevin Dube of Kitchener, Ont., recalls being told not to worry because the tests are almost always negative. For his children, they were.
But when his brother-in-law and his wife had their baby, Avery, a year ago, she tested positive for the rare phenylketonuria or PKU.
Dube said his family knew little about the condition and he was alarmed by the cost of the special formula Avery required.
“Almost everybody does not know what it is,” he said.
PKU is an inherited metabolic disease that, without proper treatment, can result in mental handicaps or other neurological problems. These people are missing an amino acid necessary to break down protein in food.
The amino acid, called phenylalanine, or PHE, can’t be processed, so it builds up. If left untreated, it can cause brain damage ranging from mild to severe.
It affects one in 12,000 to 15,000 North American babies each year or about 300 new cases annually, according to the Canadian PKU and Allied Disorders Inc.
PKU is an autosomal recessive trait, meaning both parents must be carriers of the gene. Upon conception, there is a one-in-four chance the baby will be affected.
Early diagnosis, ideally seven to 10 days after birth, allows immediate treatment to prevent mental handicaps.
The treatment is a strict diet. This means no meat, fish, poultry, milk, eggs, cheese, ice cream, legumes, nuts or the many products containing regular flour.
To raise awareness and money for the little-known disease and to help create a community for those affected, Dube decided to bike across Canada. The self-described average cyclist dipped his bike in the Pacific Ocean in Victoria June 7 and pedalled his way to Newfoundland by mid-August.
At a Regina barbecue hosted by agriculture minister Lyle Stewart and his wife, Linda, Dube met with families affected by PKU. That’s where his fundraising goal of $25,000 was exceeded.
The Stewarts’ involvement stems from the diagnosis of their granddaughter, Liberty, who is now two.
Her mother, Alison Sargent, said Liberty has been treated since she was 10 days old. Weekly blood work is done to check PHE levels.
“She eats mostly fruits and vegetables and her medical food,” Sargent said.
This includes specially ordered pastas and breads, which are covered by health services in Ontario where the family lives.
“She’s doing great. She’s right on the growth curve,” Sargent said.
Liberty’s food must be constantly monitored. The Feruglio family of Regina knows that all too well. John and Kim’s daughter, Amy, is the youngest of their three children and was diagnosed at three days of age.
She is now 18 and heading off to university. John said the cost of the special formula and food a PKU child requires is prohibitive.
“I was very lucky because my work (health plan) covered it,” he said.
Travelling involved taking a cooler of Amy’s food and a doctor’s letter about its medical necessity.
“A lot of places are very accommodating,” John said.
Local restaurants boil a different pot of water for her pasta, for example.
Kim said the entire family ended up eating more fruits and vegetables as a result of Amy’s diagnosis.
Amy, who is planning to study education at the University of Regina, said she doesn’t know how to eat any differently.
“I feel fine most of the time,” she said.
The Feruglios, Sargents and Dubes all hope that drawing attention to the rare disease will lead to more research.
The complicated and restricted diet has been used as treatment for about 50 years and coverage varies by province.
“One of these times a pill or a needle will come along,” John Feruglio said.
About a year ago, Saskatchewan joined Ontario in approving Kuvan, a drug that lowers blood PHE levels, for reimbursement.
However, Dube noted it would cost about $80,000 per year for the average person.
“Our hope is that Avery can grow up and have access to whatever she needs,” said Dube, who raised $60,000 during his ride.
For more information, visit www.canpku.org.