Saturday 19 October 2019

Wonder-drug approval could change Balbriggan girl Zoe's life

New hope raised that PKE sufferers in Ireland including a young girl from Balbriggan will be able to trial a wonder drug called Kuvan

A young Balbriggan girl and her family are hoping that she will get a shot at a potential life-changing drug previously unavailable in Ireland that has just been approved by the HSE.

Karen Phillips and her daughter Zoe, who has a rare condition called PKU, have been fighting for access to a drug called Kuvan that could hugely improve Zoe's quality of life.

They have fronted a PKU Association of Ireland campaign to have Kuvan approved in Ireland and now there seems to be some hope on the horizon that all that hard campaigning is about to bear frut.

In a statement, the PKU Association of Ireland said: 'The PKU Association Ireland (PKUAI) has been made aware that KUVAN® (sapropterin dihydrochloride) has been approved by the HSE Senior Leadership team and will be available in specific circumstances to our patient group for reimbursement from July 1, 2019.

'The PKUAI are currently awaiting receipt of the finalised document which outlines the specific circumstances under which patients will gain access. PKUAI welcomed the opportunity to represent the patient voice in the development of this document.

'Once full details have been formally received, PKUAI look forward to providing a comprehensive update to the PKU Community via our communication channels.'

In 2017, the Fingal Independent sat down with Karen and Zoe, who was then 10 to talk about PKU and how Kuvan could help Zoe and others like her.

By the time Zoe has had a slice of morning toast, she has already used up her daily allowance of protein. The consequences of failing to control the condition called PKU are severe and can result in significant brain damage.

A drug called Kuvan could transform Zoe's life.

Her mum, Karen said PKU patients just want the chance to trial Kuvan and see if it works for them.

A heel-prick test just a couple of days after Zoe was born resulted in a diagnosis of PKU (Phenylketonuria) for the Balbriggan girl which means she can only consume three grams of protein a day.

It's a strict diet virtually free of meat, poultry, fish, dairy and a whole range of natural foods that the rest of us take for granted, replaced often by synthetic products backed up by supplements. The cost of not following the diet is likely brain damage so the stakes are high for Zoe and everyone suffering with PKU.

Zoe's mum, Karen Phillips explained the condition, saying: 'It's a rare metabolic condition where Zoe is lacking an enzyme, or has very little of an enzyme that would help her break down protein which means that it basically becomes toxic in the blood for Zoe when she eats protein so we have to monitor that very carefully.'

Karen explained that PKU has a genetic component and both parents must be 'carriers'. She was not aware of the condition on her side of the family but Zoe's father has two siblings with PKU that went undiagnosed and untreated for decades, leading to brain damage and mental development difficulties for both.

Karen said: 'That's what made it worse, was when we realised we had seen what PKU is like when it's undiagnosed and untreated and that was a huge worry. As much as the nurses and consultants were brilliant in explaining things, I knew what the end result could be if it went untreated - so probably I was more fearful because of that. It was a big shock and just a challenge to try to get your head around it.'

But get their heads around it, the Balbriggan family did as they learned more and more about the condition and helped Zoe negotiate the incredibly restrictive diet.

When you ask Zoe what she is not allowed eat, she simply responds: 'A lot.' Her mother said: 'Zoe has classical PKU which is one of the severest kinds so she's down to three grams of protein a day - basically a slice of bread or a small potato. I suppose 95% of what we all eat, Zoe can't eat so it's a real juggling act every day and a real trade off every day.'

Zoe bears the burden of her condition better than one could have any right to expect a girl of her age to cope but confesses: 'I'm used to it but I don't like it - it's annoying.'

A drug called Kuvan was approved by European authorities a decade now and has been available in many European countries since then but not Ireland, where with bitter irony, the drug is manufactured.

As well as helping to manage the condition and reduce its long-term risks, Kuvan has allowed other PKU sufferers to relax the strict diet to some degree and could mean, for example, Zoe could go to an allowance of 15 grams of protein, rather than three.

Karen explained: 'Kuvan could be huge. It may or may not work for Zoe - everyone needs a trial of it just to see what the effects are. I've met a mother in the UK, Mandy who has a son called Charlie and he is just a little bit older than Zoe and was in a similar situation to Zoe on three grams of protein and he's been on Kuvan for the last couple of years and has gone up to 15 grams of protein a day and for us, that would be huge. It would be dramatic and Zoe would be able to live a more normal life.

'Different people respond differently to Kuvan and you don't know until you trial it whether it will work for you or not - it depends on the mutation of PKU that you have.'

There are just over 700 recorded cases of PKU in Ireland although there could be many more that went undiagnosed before the heel-prick test started to be used to identify it in the mid-60s. Kuvan will not help in all of those cases but all the Balbriggan family want is for everyone to have the chance to at least trial the drug and see if it helps and they cannot afford to wait another eight years for a new review and now there seems hope that might happen.

Fingal Independent