Launch of The Live Unlimited PKU Campaign

New research reveals impact of ‘hidden’ health conditions and calls for better care for patients with rare disease, PKU

For the first time, patient groups – supported by funding from BioMarin - from across six countries in Europe have come together to create a coalition with the shared goal of improving health services for PKU patients. The Live Unlimited PKU campaign has launched on the 28th June, International PKU Day and brings together patient organisations from Turkey, Spain, France, Sweden and Italy to tackle public misconceptions of the disease.

The campaign aims to raise awareness of the potential severity of the disease and calls for improved standards of adult care, including consistent provision of metabolic specialists, dieticians and psychological support for every adult with PKU in Europe – aligned with the European Guidelines from 2017.iv

Phenylketonuria (PKU) is a rare, lifelong metabolic condition which affects around 1 in 10,000 people in Europe.ii The condition limits a person’s ability to break down protein, with potentially devastating effects on the brain if left unmanaged.iii 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.iv

Deniz Atakay, Chief Executive of PKU patient organisation Aile Dernegi (Turkey)

We’re really excited to be working with organizations across Europe to raise awareness of PKU. The condition can have very serious effects if not managed properly, and patients urgently need more support from the healthcare system. Turkey has the highest rates of PKU in Europe, but still we don’t have enough specialists to meet the needs of everyone living with the condition.”

There is currently no cure for PKU, so either a heavily restricted diet – with almost no natural protein - and/or medical treatment may be required for life.v Despite the neurological effects of the condition and difficulties following a low-protein diet, 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.vi

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.vii

These findings were in line with polling results conducted as part of the campaign, which demonstrated that PKU patients are more likely to find certain life milestones stressful than people without a hidden health condition. Key findings build a Pan-European picture of the impact PKU has on the lives of patients when compared to those without a hidden health condition, including:

• In France, people with PKU are:
  • 42% more likely to be worried about having their symptoms dismissed when visiting their doctor;
  • 253% more likely to be stressed by travelling abroad;
  • 93% more worried about people thinking they are strange when going on a date
• In Turkey, people with PKU are:
  • 110% more likely to be stressed about making new friends
  • 39% more likely to be worried about making a good impress when starting a new job
• In Italy, PKU patients are
  • 147% more likely to feel stressed about travelling abroad
  • 25% more likely to be worried about going on a date
• And across Europe, people with PKU are 35% more concerned about doctors not having any knowledge of their condition, and 29% more concerned about having their symptoms dismissed by doctors.​

Every patient is entitled to the best possible care regardless of the rarity of their disease. The Live Unlimited PKU message resonates with us as healthcare professionals, with patients and hopefully, with the general public and decision makers. Raising awareness of this condition and the burden it has on patients’ lives on a daily basis is extremely important.

The broader the voice behind the message of this campaign, the greater the likelihood that it will be recognised as a serious health priority and patients and families living with PKU will have equitable access to effective medical services. Together, we are so much greater than the sum of our parts and I strongly believe no one should feel forgotten or different because of their condition.”
 Prof. Alvaro Hermida. Reference Center for Metabolic Diseases. University of Santiago de Compostela (Spain)

The Live Unlimited PKU campaign has been co-created by many patients, and six patient support organisations - with funding and support from the biopharmaceutical company BioMarin - in order to drive policy change and help put in place the right care for adults living with PKU across Europe.
The campaign includes a suite of visual imagery and videos featuring the personal stories of patients across Europe. There are campaign videos which highlight the lives and challenges of PKU patients in their respective countries and many more case-studies available on the campaign website (www.liveunlimitedPKU.com). The one-year campaign will run until International PKU Day 2020, with many patient groups and individuals helping to raise awareness of PKU until this date. Further events and initiatives will continue throughout the year.

FEEMH is really excited by the launch of the Live Unlimited PKU campaign. We believe in the need to improve support for people living with PKU (phenylketonuria), and unfortunately it’s a disease which is relatively unheard of, despite being one of the most common rare diseases. The launch of the Live
Unlimited PKU campaign is an exciting step in the right direction to raise awareness of this “hidden condition”.  Around 1 in 10,000 will be diagnosed with PKU, and every baby is tested for PKU at birth using a heel-prick test. PKU limits a person’s ability to break down protein, leaving them to manage complex dietary issues, consuming protein can lead to potentially devastating effects on the brain. This impact of PKU is not only physical, but also emotional, with people living with the condition having higher levels of anxiety and depression than those without.
We believe strongly in the need to bring to light how serious PKU is and call on policymakers to improve care for people and their families living with PKU in Spain.
Agata Bak, Chief Exeuective of PKU organisation FEEMH (Spain)

Patient Impact

Five patients from across Europe share their experiences of living with PKU in a series of videos. The full video series can be viewed here.

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About Live Unlimited PKU
The Live Unlimited PKU campaign launched in June 2019 to raise awareness of the gaps in care for adult patients living with the rare genetic condition, phenylketonuria (PKU). The campaign has been developed alongside the six patient groups and their memberships: AMMeC and Cometa A.S.M.M.E (Padua) (Italy), Les Feux Follets (France), Svenska PKU-föreningen (Sweden), PKU Aile Derneği (Turkey), and FEEMH (Spain), funded and developed by BioMarin Europe Ltd. The campaign seeks to call for consistent provision of adult metabolic specialists, dieticians and psychological support for every adult with PKU in Europe.
www.liveunlimitedPKU.com
   

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About phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person’s ability to break down protein and can lead to cumulative toxic effects on the brain.iv With PKU, the foods you eat directly impact the way your brain functions.
People with PKU have a problem with the phenylalanine hydroxylase (PAH) enzyme, and so can’t fully break down an amino acid called Phenylalanine (Phe), which is found in all protein-containing foods (e.g. nuts, meat, eggs, dairy) and sweeteners such as aspartame.iv If too much protein is consumed, high levels of Phe build-up in a person’s blood and disrupt the balance of neurotransmitters - or even cause physical damage to the brain itself. This can result in neurological symptoms such as problems with memory and attention, depression and anxiety.[viii] The condition is screened for during the new born heel-prick test, and affects around 1 in 10,000 people in Europe.iv,v PKU is an inherited autosomal recessive disease. This means that if both parents are carriers of the PKU gene, their baby has a 1 in 4 chance of suffering from PKU.[ix] The condition is tested for in almost all European countries during the new born heel prick test, but general awareness of the condition remains low. Until fairly recently, doctors thought that PKU was a condition that was outgrown once the brain fully developed as a teenager. However, we now know that high blood Phe levels continue to result in damage at any age, and so the condition should be managed for life.[x]
Please find the campaign website, including all patient stories, here: www.liveunlimitedPKU.com

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Sources​
[ii] ESPKU. PKU: Closing the Gaps in Care An ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies. Available at: https://www.espku.org/wp-content/uploads/2015/06/PKU_report_FINAL_v2_nomarks.pdf
[iii] 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. 
[iv] Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31:57–68. Last accessed April 2019
[v] Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments. Transl Pediatr. 2015;4(4):304–317. doi:10.3978/j.issn.2224-4336.2015.10.07
[vi] Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115
[vii] Ford, S. et Al. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Report. 2018
[viii] Bilder DA et Al. Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. Dev Neuropsychol. 2016 May-Jun;41(4):245-260. 
[ix] NORD. 2019. Phenylketonuria. Available at: https://rarediseases.org/rare-diseases/phenylketonuria/. Last accessed April 2019
​[x] Berry et Al. Newborn screening 50 years later: access issues faced by adults with PKU. Genetics in Medicine volume 15, pages591–599 (2013)