Sparwood resident Nicole Pallone and I are exchanging pleasantries when Rosie, her three-and-a-half year old asks, “When are we going to talk about PKU?”
Phenylketonuria or PKU is a “rare genetic disorder that inhibits or eliminates the body’s ability to process protein properly. This condition can lead to mental retardation. With early detection, a very strict low protein diet and new treatments, damaging effects can be avoided,” explains Nicole.
Both mother and daughter are well versed about this disorder. “Rosie takes it in her stride, that’s all she knows. When older it will be more difficult, but anything that sets a kid apart in school is stressful.
“It was a shock when I was told that Rosie showed a high level of phenylalanine, it’s been difficult to leave Rosie with anyone that doesn’t understand this condition.” Babies born with PKU are missing an enzyme that breaks down protein in food, specifically phenylalanine. When not completely broken down it builds up in the blood and damages the brain causing neurological problems.
Kids and adults with PKU must follow a strictly controlled diet restricting intake of natural protein and instead drinking a synthetic phenylalanine-free formula and eating special low protein foods. This may not sound so bad until one realizes the financial, physical and emotional burden it places not only on the one with the disorder but also on the families.
Nicole said that babies receive screening right after birth so when she was told that her daughter had been diagnosed with PKU and needed to be re-admitted to hospital for tests she “checked online and became distraught. There are 500 mutations of PKU, which means thousands of variances, anyone diagnosed in B.C. or Yukon has to go to Vancouver Children Hospital.”
Rosie is in a study for Kuvan, an approved drug that has no negative side effects. This means it has helped increase her tolerance for protein but Nicole says they haven’t introduced higher protein foods until Kuvan is covered by BC MSP.
Nicole asks Rosie, “What do you have to do with all your food?” She responds easily, “Weigh it, because there’s protein, because I have PKU. I can’t have chicken, milk, fish, meat, nuts, eggs.” Rosie knows what she can’t have. Her mom adds, “No dairy or soy, only a modest amount of fruit and vegetables and a small amount of the less healthy foods like fruit loops and corn pops cereals.
“Phenylalanine is used to grow muscles; leftover is turned into tyrosine, which is used to build neurotransmitters. Rosie can’t turn leftovers into tyrosine so the build-up of PHE is toxic. In B.C one in 1,400 is born with this, yet the BC Minister of Health says this isn’t rare. All other developed countries have a definition for rare disorders but Canada doesn’t, they leave it up to each province to define. I know Kuvan allows Rosie to have more natural protein but I don’t want to do that just yet until I know that it will provide her with a significant higher quality of life and until the drug is covered, based on weight she would need three tablets a day. This will cost us $60,000 a year. Adults need 18-24 a day.
“This drug is important. It lets us have day trips for shopping, or going camping, going on vacation, eating, all that we take for granted, now everything needs to weighed and measured, formula has to be refrigerated. Being different is hard. 79 per cent of adults don’t follow the diet because they don’t feel full and because it’s tedious. When they don’t it affects them psychologically so they suffer from depression, anxiety, panic attacks, problems with executive functioning, multitasking, organization and high level of math can be difficult.”
Last year Nicole accepted the position of vice president of CanPKU and Allied Disorders Inc. Rosie raised over $2,000 last year by walking 3 kilometers in Vancouver where the walkathon is held annually. Nicole is taking pledges for this year and also needs silent auction items.
She says she loves what she does, “I try to make a difference like getting low protein foods covered, some provinces don’t even cover formula. There are adults out there that can’t function, they need to get back on the diet, some of those people don’t even recall being on treatment, being on the diet makes you more self- aware, calmer and able to think clearly.”
Nicole and her husband Dino have another child Carmella. “Rosie is wonderful but I cried when we found out Carmella doesn’t have PKU,” says Nicole.
Rosie is a bright, sweet little girl who says she wants to be a doctor “so I can help other kids with PKU.”
Last year she was the poster child for the official brochure put out by the Canadian PKU and Allied Disorders Inc. organization.