A Langley grandmother is one of hundreds of people getting ready to stand up to the province over funding for treatment of a rare genetic disorder.

Sharon Pallone's granddaughter Rosie, who lives in Sparwood with her parents, is going on five years old and soon to enter Kindergarten.

"She's very sweet, kind, she's a gentle little girl," Pallone said.

But Rosie is also one of just 12,000 to 15,000 people in Canada born with phenyl-ketonuria, or PKU. People with the disorder can't process phenylalanine, an amino acid found in almost every protein.

A buildup of the chemical in the brain can turn toxic, and slowly cause mental impairment and even epilepsy.

Children are tested for PKU at birth, and their parents learn shortly after delivery that their child will have severe restrictions for the rest of his or her life.

To avoid long term damage, Rosie's parents have kept her on an incredibly strict diet ever since she was born.

"All of Rosie's food is weighed," said Pallone.

The child is a vegan by necessity, banned from eating meat, eggs, cheese, nuts, and beans.

Most of her diet is medical foods that have eliminated the dangerous proteins.

Deviating from the diet doesn't have any immediate, obvious effects. They build up slowly and cause life-long damage.

In July, the Pallone family were among hundreds hoping that they might get some help from the provincial government.

A relatively new drug, Kuvan, has been approved by Health Canada and is believed to be useful in between 20 to 56 per cent of all PKU cases. It can help lower levels of phenylalanine for some, but not all, patients.

Rosie is currently on a clinical trial of the drug.

Over the summer, the B.C. Ministry of Health decided not to fund Kuvan as a treatment.

"We thought that it was going to be approved, we thought it was all positive," said Pallone.

The provincial Ministry of Health has issued a statement about the drug, citing "unclear benefits and high drug costs."

"The annual cost per patient for the medication can be up to $180,000 per year for an adult, depending on dosing and the patient's weight," said the goverment statement.

"Manufacturers - and not payers - should be responsible for demonstrating that the drug provides clear benefit."

Pallone noted that with costs at a minimum of tens of thousands of dollars, parents can't afford to treat their children either.

That's over and above the cost of expensive, treated medical foods that most patients need to survive.

The province has also refused to provide a supplement for low-protein foods.

"The ministry does not fund food purchases as this is considered a personal responsibility," said the ministry. "This is consistent with other medical conditions that require patients to follow a special diet, such as diabetes or Celiac disease, which are not provincially funded for special foods to manage dietary restrictions."

Rosie's mother, Pallone's daughter in law, is a vice president of the Canadian PKU and Allied Disorders group, which functions mostly as a support group and information service for parents and patients.

It has spent the last three years advocating for the approval of kuvan and for financial support for expensive medical food.

"The medical food would be a big help," Pallone said. A single bag of pasta can cost up to $16 for PKU patients.

Now Pallone is getting into lobbying herself. She has sent a letter to her local MLA, Mary Polak, as have other parents and grandparents around B.C.

Pallone is set to meet with Polak soon.

"Hopefully that goes well," she said.

The families are also taking their case public, hoping pressure can sway the government into acting.

mclaxton@langleyadvance.com