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Perspective interview - Nicole Pallone

Perspective interview - Nicole Pallone

Third Issue of the PKU Academy Newsletter PKU Perspectives - an interview with Mrs Nicole Pallone

Nicole Pallone tells us about how she felt when asked to consider putting her daughter, aged 18 months in a clinical study.

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Deciding to enrol in a clinical study for a potential new medicine requires a great deal of thought. It is a decision that no one should take lightly. So, what must go through the mind of a parent who is choosing whether to enrol their infant in a study, particularly one for a rare condition like PKU? Inevitably, in such a situation, the numbers who have taken the investigational drug before will be low.

One parent who has been in exactly that position is Nicole Pallone1. Mrs Pallone gave a presentation at the Dietitians’ Workshop in March 2012 (Rome, Italy) on managing blood Phe levels in toddlers with diet and sapropterin. The presentation featured ‘Patient Pallone’ who joined the PKU-015 study in Vancouver (British Columbia, Canada) at 20 months old.

From birth to diagnosis

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Nicole Pallone’s daughter Rosie was born on January 26, 2008, weighing 4.14 kg (9 lbs, 2 oz). The Pallone family was overjoyed at the arrival of their first-born baby, but after just one night at home, when Rosie was 4 days old, they were called back to the hospital to hear that Rosie had been diagnosed with PKU.

‘Receiving the news that Rosie had PKU was devastating’ Mrs Pallone said. ’We were heartbroken and very upset. We were horrified by what we read about the mental retardation associated with PKU and the need for a special diet was also a big concern. We were really worried about what it would be like for her at family dinners and special occasions like birthday parties, Halloween and Christmas.’

Fortunately, the Pallones lived close to a specialist clinic at the BC Children’s Hospital. ‘We were very lucky’ Mrs Pallone told us. ’Our clinic did a very good job of educating us at a rate that we were able to absorb. They were very conscious of the emotional state we were in and took into account our ability to retain the information they had to give us. When necessary, they went very slowly.’

The diagnosis is long behind them and Rosie is no longer a baby but a lively little girl. How does family life compare with their first fears about caring for a child with PKU? ‘What we have found is that we probably worried about it more than we needed to’ her mother said.

Embracing PKU

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‘She’s only 4 years old, but at this point she is quite happy with her special treats. The family is very aware of her diet and so is she. Even though people occasionally offer her foods she can’t have, she knows well enough not to take them. We try to eat meals together as much as possible and try to make hers similar to ours. If we’re having pasta with chicken and vegetables we’ll make her special pasta and a couple of different vegetables and maybe some kind of low Phe replacement. We’ve really embraced her PKU.

‘I do spend a lot of time in the kitchen’ admitted Mrs Pallone. ‘Mealtimes at our place are quite unique; Rosie has PKU, my younger daughter Carmella and my husband are lactose intolerant and I have ulcerative colitis, so we all have different dietary needs and I’m often cooking two completely separate meals at least. This has a benefit because it helps us educate Rosie that different foods are good for different people.’ And so, through diet and thanks to close follow-up, Rosie enjoyed stable blood Phe levels, although occasionally these fell outside of the clinical target (120–360 µmol/l).

Difficult decisions

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Decision time came for her parents when Rosie was 18 months old. The Pallones were invited to enrol her in PKU 015, a Phase 3b study into the efficacy of sapropterin in young children with PKU. Was the decision easy to make? ‘We were hesitant and we took quite some time to reach it’ explained Mrs Pallone. ‘There were all kinds of reasons that made us hesitate; one of which was simply the stigma of putting your child in a study and considering them a “guinea pig”.

‘In the end, we decided that the medical knowledge was worthwhile and that, if she responded, Rosie’s life might be made easier. Ultimately we decided that we would regret not putting her on the sapropterin study if, 10 years down the road, she was having trouble in school or trouble emotionally and by that point the study had proved that sapropterin could have helped and could have prevented those issues. We just didn’t want to have any regrets and we felt that the possibility of exposing Rosie to more potential harm by not joining the study outweighed the risks of side effects from taking sapropterin.

‘I would encourage any parent who’s offered the same opportunity to really weigh the pros and cons and make the decision that’s right for their family and their child, but to keep in mind that this research is really crucial, not only for clinicians to understand what exactly the medication does but also from the point of view of convincing governments of the need to fund treatments like this.

‘They really rely on proven published medical and scientific research and with a rare disorder like PKU, where the population is so scarce, we really can’t live up to the typical standards that a regular medication would need for government approval and we struggle to get enough patients. This makes it imperative that people take part in these studies’ Rosie’s mother said.

Liberalising diet

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The Pallones have had to take care to introduce natural protein without normalising Rosie’s diet. They felt this was essential in case, at the end of the study, Rosie has to return to a strict diet. Sapropterin is not currently funded through the Medical Services Plan of British Columbia (BC MSP). If this position doesn’t change, sapropterin will not be available to them after the study ends. Nicole Pallone and the Canadian PKU and Allied Disorders (CanPKU) are actively campaigning for coverage of low-protein food and sapropterin by BC MSP.

Nicole Pallone has been vice president of CanPKU , a charity that works to provide news and information to families and professionals dealing with phenylketonuria, since October 2010. ‘We believe that knowledge leads to better health. We encourage companies and the medical community to continue doing the research they are doing on new treatments and potential cures.

Patients deserve the best

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‘I sometimes think that because the treatment of PKU with diet was such a success story, we reached a level of complacency. We have become very accepting of the outcomes for PKU patients. Even if they aren’t measuring up to their peers they’re still thought to be doing really well because they are healthy and happy. What I would like to say is that they deserve to do more. They deserve to do the best they can. I have a 4 year-old daughter who is smart, funny, vibrant and she wants to be a doctor. I want to give her every tool in the toolbox so that she can reach her goals.’

 

1 Mrs Nicole Pallone (vice president of Canadian PKU and Allied Disorders, Ottawa, Canada)