Liam Moore, shown with his parents, Colin and Tasha, has PKU, a rare genetic metabolic condition. A fundraiser for support group, CanPKU will take place Sunday at Victoria Park.
©THE GUARDIAN/Jim Day
Five-year-old Liam Moore nibbles on Shreddies while sitting on the family deck with his legs sprawled widely apart.
The handsome young boy with strawberry blond hair, light blue eyes and a smattering of freckles splayed on his cheeks and nose is a picture of health.
He is restless, though.
He makes only short pit stops on the deck at his Charlottetown home, with mom Tasha and dad Colin keeping an eye as they sit at a table outdoors with a jug of iced tea.
Liam’s dry cereal break from spirited tennis ball smashing on the lawn is no random snack.
The child’s food intake is measured with the level of precision a gourmet chef would ascribe to the volume of one ingredient to the next infused in a tasty offering.
Liam will eat 38 grams of protein on this day. Not one gram more. Not one gram less.
Regular blood tests are used to determine the appropriate daily level of the boy’s low protein diet.
Liam has PKU, a rare genetic metabolic condition that prevents his body from breaking down protein and threatens his brain health. So his diet must be meticulously managed.
His parents turn regularly to a thick binder — they call it their bible — that contains protein measurements for hundreds and hundreds of different foods.
Everything Liam eats is measured and recorded.
Colin pulls out a note pad and randomly flips to Jan. 24 of this year.
On that day, Colin ate, among other well-measured servings, 17 grams of milk, 3.5 grams of bread, one gram of peaches, .7 grams of cucumbers and 9.7 grams of pasta.
“It’s constant math all day is what it boils down to,’’ says Tasha.
Purchasing and preparing food for Liam is an arduous task, but his parents feel fortunate on two fronts.
First, Liam is the Moores’ only child. So dutifully doling out a strict daily low-protein diet to the boy is all they have ever experienced as parents. Second, and most importantly, Liam is doing very well.
Pediatricians “are thrilled’’ with the boy’s physical and mental development.
Others with PKU fair much, much worse.
Without early diagnosis (Liam was diagnosed in his first week of life) and treatment, most patients would be severely mentally challenged.
“We are fortunate that he is on a drug trial for Kuvan (the only medication approved in the management of PKU) and that he responds to this treatment (many don’t),’’ says Colin.
“Kuvan increases his body’s ability to process protein and is crucial in helping brain and neural tissue develop as normally as possible.’’
Neither private health plans nr the P.E.I. government cover Kuvan, which costs approximately $100,000 per year. The family could not afford the drug without the trial and Liam would not be as healthy as he is today.
Even with Kuvan, Colin and Tasha need to measure everything their boy eats.
The boy’s diet is a strictly controlled mix of fruits, vegetables, some grains and specialty foods not available in grocery stores.
As Liam’s appetite grows, so will his reliance on expensive specialty foods needed to control his level of phenylalanine, which is one of the amino acids found in dietary protein. The cost of a low-protein diet with specialty foods is about six times that of a comparable regular diet, says Colin.
For instance, the Moores pay $13 for a specialty loaf of bread for Liam.
The family, though, is not going public to seek financial help to pay their bills.
Rather, they want to raise awareness about PKU and bring in some funds for CanPKU, a non-profit organization dedicated to providing accurate news, information and support to families and professionals dealing with PKU and similar, rare, inherited metabolic disorders.
Colin and Tasha have spent a great deal of time and energy learning as much about the condition as they can.
They have travelled to the PKU clinics in Halifax and Moncton. They joined CanPKU and travelled to their events to meet children, adults and families also affected by PKU.
They read and research as much as they can.
They also turn to CanPKU at least once a month for direction on dealing with Liam’s condition.
“You get a level of comfort that you are doing all you can for your son,’’ says Colin.
Colin is aware of six other P.E.I. families - there could well be more - dealing with a loved one who has PKU. They all face their own unique challenges.
There are some patients in the province who have been institutionalized due to their symptoms, adds Colin.
These are people, he notes, were born before 1964 when newborn screening began in P.E.I. or have not managed their condition well for one reason or another.
The Moores want to help CanPKU so the group can better help others. Liam, ultimately, benefits from increased support to CanPKU.
A PKU friendly picnic is being held Aug. 11 from 4 p.m. to 6 p.m. at the Culinary Institute in Charlottetown. Chef instructors will do the menu and food preparation. All donations will go to CanPKU.
Donations can also be made at www.corddonate.ca/averysrideforpku.
“Please consider attending to try low-protein meals, learn about PKU, listen to music and donate to a worthy cause that has a very small voice,’’ says Colin.
Joining the ride
Kevin Dube is biking across Canada to raise money and awareness about PKU.
His niece Avery, born in 2013 with the rare metabolic condition, is the inspiration for the journey to raise funds and awareness.
Dube will be in Charlottetown Sunday, Aug. 11 to take part in a PKU picnic fundraiser from 4-6 p.m. at the Culinary Institute.
The public is encouraged to attend to enjoy a low-protein meal, learn about PKU, listen to music and donate to a worthy cause.