A 34-YEAR-old Clane woman, who was diagnosed with a rare metabolic genetic disorder at birth, is echoing the call to make a new drug available to sufferers in Ireland.
Rebecca Mulvany has lived with Phenylketonuria (PKU) all of her life – the disorder makes it difficult for her body to break down an amino acid called Phenylalanine which, if untreated, builds up in the blood and brain and can cause serious problems.
Ireland has one of the highest rates of sufferers of this condition. A PKU diet removes 95% of normal food from a daily diet and the Irish PKU community is calling for access to treatment that is currently widely prescribed and reimbursed throughout Europe.
Kuvan, the only treatment for PKU, has been refused for funding by the National Centre for Pharmacoeconomics (NCPE) twice. The PKU Association of Ireland is frustrated by this, saying that this process is not designed for ‘orphan drugs’ that will never have the necessary data to pass NCPE assessments. The HSE will make a final decision for or against funding the drug later this month.
Rebecca explained how she has been on strict dietary therapy for her entire life, since a heel prick test at the age of five days old determined that she had the disorder.
“As a baby I was put on different bottles and supplements and I’ve been on a strict diet all of my life. Everything has protein in it and I’m limited to how much I can have per day.”
Rebecca is allowed a certain number of ‘exchanges’ each day and says that her own tolerance is quite low, meaning she will only take five exchanges per day which could be the equivalent to one pack of crisps for others.
As a child, Rebecca had to have special lunches for school or tours, as well as pre-made plates for children’s parties or other such events.
Living with PHU as a teenager was a nightmare said Rebecca as she was already experiencing hormonal changes without feeling completely different to everyone else as well.
“I went through a phase where I used to hide my lunches so I wouldn’t be quizzed about it.”
Kuvan, she said, would make a big difference to her as it would allow her more protein exchanges during the day and thus, a better quality of life.
“It’s a delicate balancing act every day. If I have too much protein I’ll lose concentration and become agitated. It’s a constant task, all the time. You’re always watching labels because products change all the time as well.”
But, despite the worry of eating the right food and the right amount of them, Rebecca said that she has found the biggest issue to be explaining her condition to people and getting them to understand that it’s not a diet, it’s something that she simply has to do.
“Eating out can be difficult because I’ll ask for just vegetables and be told that there’s a vegetarian option and there’s just an awkwardness when you’re explaining it.
“It’s all about planning. I can’t have a moment where I’ve run out of the synthetic drink that I have to have on a daily basis to balance my protein levels.”
For more information on PKU, log on to: www.pku.ie