Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person's ability to break down protein, with devastating effects on the brain if left unmanaged[i]
The Live Unlimited PKU campaign features stories of how PKU affects patients' lives to highlight the urgent need for improvements in care
For the first time, patient groups from six countries in Europe have come together with the shared goal of improving health services for people living with the rare condition PKU as part of the Live Unlimited PKU campaign.
The condition limits a person's ability to break down protein, with potentially devastating effects on the brain if left unmanaged.[i] In Europe, the condition is screened for during the new born heel-prick test, but just 9 per cent of the public have heard of the condition.[ii]
PKU can have a serious and long-lasting effect on patients' mental health and quality of life, with a recent study showing that as many as 52% of adults with PKU lived with anxiety or depression. Other issues reported by patients include 'brain fog', sleep issues and lapses in concentration.[iii]
In fact, new research reveals people with hidden health conditions like PKU are 42% more likely to find everyday activity, like going on a date, travelling abroad and making new friends, stressful.[i]
Just 12% of adults with PKU have access to the multidisciplinary tools and support they need, with many adults having to go to children's wards to receive any specialist care.[iv]
Key findings include[i]:
Only 1 in 10 people surveyed were aware of PKU
People with underlying health conditions are 42% more likely to find a life milestone stressful than people without one, on average.
People with underlying health conditions are more likely to find certain life milestones stressful, than people without a hidden health condition
87% more likely to be stressed about making new friends
40% more likely to be stressed about going on a date
40% more likely to be stressed about retaining a job
49% of people with an underlying health condition hide this from their colleagues, their friends (27%), family (18%) and partners (15%).
29% do this because they fear that others won't understand; and 20% because they think they will be dismissive.
Campaign videos highlight the experiences and challenges of PKU patients in their respective countries and are available at www.liveunlimitedPKU.com.
About the polling
BioMarin commissioned polling company Alligator to conduct a six-question online survey amongst nationally representative samples from the UK, France, Germany, Italy, Spain, Sweden, The Netherlands and Turkey, with 4,151 total respondents in total.*
[i] Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. Published 2017 Oct 12. doi:10.1186/s13023-017-0685-2.
[ii] Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31:57–68. Last accessed April 2019
[iii] Ford, S. et Al. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Report. 2018
[iv] Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115