{"id":61,"date":"2023-11-06T10:47:09","date_gmt":"2023-11-06T10:47:09","guid":{"rendered":"https:\/\/liveunlimitedpku-dev-001.azurewebsites.net\/hu-hu\/?page_id=61"},"modified":"2024-12-07T21:23:04","modified_gmt":"2024-12-07T21:23:04","slug":"position-paper","status":"publish","type":"page","link":"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/position-paper\/","title":{"rendered":"Position paper"},"content":{"rendered":"
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\n\t\t\t \t\t\t\t Life is complicated when you don’t have the tools you need<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t

‘BENEATH THE SURFACE’: Position Paper \n<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t

Phenylketonuria (PKU) can impact peoples’ lives in hidden ways every day.<\/strong><\/p>\n

For people living with phenylketonuria, high phenylalanine levels can adversely impact their mood, concentration and mental health. 1, 2, 3<\/sup> This is in addition to the wider emotional challenges associated with managing this complex, lifelong condition.4<\/sup><\/p>\n\t\t\t\t\t\t\t\t\n

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On the surface, there is a clear route for diagnosing and managing phenylketonuria. However, phenylketonuria is a hidden illness with many facets that are not always physically obvious to others.<\/strong><\/p>\n

The Live Unlimited PKU campaign developed the \u2018Beneath the Surface\u2019 position paper and executive summary<\/strong> to explore the neurocognitive, psychosocial and mental health impact of phenylketonuria and how this affects those living with this condition.<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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\u2018Beneath the Surface\u2019 Position Paper\n<\/h4>\n \n \n <\/div>\n
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Download (PDF-1.7MB) <\/a><\/p>\n <\/div>\n<\/div>\n\n

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\u2018Beneath the Surface\u2019 Executive Summary\n<\/h4>\n \n \n <\/div>\n
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Download (PDF-196KB)<\/a><\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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What are the findings of the \u2018Beneath the Surface\u2019 position paper?<\/h2>\n

The paper highlights that people living with phenylketonuria (PKU) can be impacted by their condition in the following ways:<\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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Concentration\n<\/h4>\n \n

People living with PKU are more likely to struggle with memory, strategy and problem-solving skills5<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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Work & Education\n<\/h4>\n \n

The neurocognitive impact of PKU means that people living with PKU are less likely to achieve their senior high school diploma6<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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Relationships\n<\/h4>\n \n

A recent study found that over 4 in 10 adults living with PKU feel socially excluded as a result of their condition3<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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Mood and Fatigue \n<\/h4>\n \n

13% of PKU patients reported underlying mood swings and 25% additionally reported experiencing fatigue7<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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Mental Health \n<\/h4>\n \n

50% of adults living PKU reported experiencing symptoms of anxiety or depression3<\/sup><\/p>\n <\/div>\n<\/div>\n\n

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Social Impact \n<\/h4>\n \n

People with PKU can experience social difficulties and emotional problems due to their PKU1<\/sup><\/p>\n <\/div>\n<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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I usually have emotional instability when my phenylalanine (Phe) levels are high\u2026 I get more sensitive sometimes, I get more irritable. It really affects my emotions.”<\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t -PKU Patient Turkey<\/span><\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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What changes does the \u2018Beneath the Surface\u2019 position paper outline?<\/h2>\n

To support people living with phenylketonuria, the \u2018Beneath the Surface\u2019 position paper calls for the following changes: <\/p>\n <\/div>\n <\/div>\n <\/div>\n<\/div>\n\n

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1. Psychological and practical support\n<\/h2>\n <\/div>\n
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Healthcare service<\/strong> providers should tailor care models to provide psychosocial and practical support<\/strong> for all people living with PKU.<\/p>\n <\/div>\n <\/div>\n

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2. Tools to support conversations with clinicians \n<\/h2>\n <\/div>\n
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Policymakers, clinicians, and the patient community should collaborate to develop tools that allow patients to have meaningful discussions with clinicians<\/strong> on their concentration, mood and quality of life.<\/p>\n <\/div>\n <\/div>\n

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3. Individualised care for PKU patients\n<\/h2>\n <\/div>\n
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Policymakers, clinicians and the patient community should review current management guidelines<\/strong> to identify how individualised care plans can be designed to better support PKU patients.<\/p>\n <\/div>\n <\/div>\n

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4. Collaboration across the rare disease community\n<\/h2>\n <\/div>\n
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Organisations (such as patient advocacy groups) and clinicians working across the rare disease community should collaborate to encourage policymakers to prioritise rare diseases within the health system.<\/strong><\/p>\n <\/div>\n <\/div>\n \t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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PKU has many shades. If we focus only on the medical side, we will lose the emotional part of the patient.”<\/p>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t -PKU Patient Italy<\/span><\/cite>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/blockquote>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n

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References:\n<\/h4>\n\t\t\t\t\t\t
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  1. PKU (2021). How PKU Affects the Brain. Available at: https:\/\/www.pku.com\/about-pku\/phe-in-the-brain. [Accessed April 2023]\n<\/span><\/li>\n
  2. Gentille, J.K., Ten Hoedt A.E., Bosch, A.M (2010) Psychosocial aspects of PKU: Hidden disabilities \u2013 A review. Mol Genet Metab, 99 Suppl 1:S64-7. doi: 10.1016\/j.ymgme.2009.10.183.\n<\/span><\/li>\n
  3. Ford S, O\u2019Driscoll M, MacDonald A (2018). Living with phenylketonuria: lessons from the PKU community. Mol Genet Metab Rep, 17: pp 57\u201363. 10.1016\/j.ymgmr.2018.10.002\n<\/span><\/li>\n
  4. Nunn, R (2017). \u201cIt\u2019s not all in my head!\u201d \u2013 The complex relationship between rare diseases and mental health problems. Orphanet journal of rare diseases, 12(29). Available at: https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0591-7 [Accessed June 2021]\n<\/span><\/li>\n
  5. Bartus, A., Palasti, F., Juhasz, E., et al. (2018) The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients. Metabolic Brain Disease, 33, pp. 1609\u20131615 (2018)\n<\/span><\/li>\n
  6. M\u00fctze, U., Roth, A., Weigel, J.F.W., et al (2011). Transition of young adults with phenylketonuria from pediatric to adult care Mutze. J Inherit Metab Dis, 34(3), pp. 701-9. doi: 10.1007\/s10545-011-9284-x. Epub 2011 Feb 9.\n<\/span><\/li>\n
  7. Borghi, L., Moreschi, C., Toscano, A., et al (2020). The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy. Mol Genet Metab Rep. 2020 Jun; 23: 100585. Published online doi: 10.1016\/j.ymgmr.2020.100585\n<\/span><\/li>\n <\/ol>\n\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-61","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"\nPosition paper | Live Unlimited PKU<\/title>\n<meta name=\"description\" content=\"The Live Unlimited PKU campaign is launching to raise awareness of PKU, and the challenges which adults living with the disease face on a day-to-day basis.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/pku.biomarin.com\/hu-hu\/liveunlimited\/position-paper\/\" \/>\n<meta property=\"og:locale\" content=\"hu_HU\" \/>\n<meta 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