For those with HCU - Experience of diagnosis and patient satisfaction https://www.hcunetworkaustralia.org.au/experience-of-diagnosis-and-patient-satisfaction/
PKU “LIVING IN CHALLENGING TIMES”
PKU COMMUNITY UNITES FOR INTERNATIONAL PKU DAY
Today, Sunday 28th June 2020, The PKUAI (PKU Association of Ireland) join with PKU communities throughout Europe and across the globe to celebrate International PKU Day and unite in calling for ‘Lifelong Care for PKU’ (Phenylketonuria, rare genetic disease).
In 2020 the Irish PKU community is both living with PKU and the additional and significant impact on mental health caused through COVID-19.
PKU is a rare metabolic condition of which Ireland has one of the highest rates, and most severe cases in Europe. PKU affects 1 in every 4,500 people in Ireland and is detected by the newborn heel prick test. Untreated and unmanaged PKU causes toxic effects on the brain, resulting in irreversible neurological damage.
It’s never been more important to find a way to connect together and to mark such an historic day. For #PKUDay2020 PKUAI will participate and support PKU events this Sunday and next week exploring key challenges faced by PKU community internationally. The PKU community are uniting in calling for better and consistent access to specialist and frequent lifelong care for the incurable and challenging rare disease.
People living with PKU, family, friends and the general public are all invited to the virtual events this Sunday aimed at raising awareness, evolving dialogue and calling for change including;
Live Unlimited presents ‘Living in Challenging Times’ ‘A Live Panel Event on Facebook’ which involves discussions around key themes between Clinicians, patient groups and PKU Adults. Marianne Foody, PKU young adult from Sligo is taking part and representing young adults. The event will be happening on 28th June at 1pm on Zoom and you can register to join the event via the link: https://us02web.zoom.us/webinar/register/WN_B9nuMiYBQdSbijw82S2hmQ.
Marianne Foody, PKU young adult originally from Sligo said “PKU is a very challenging disease to live with. Growing up in Ireland, no one in my community knew or understood what PKU was and I felt very isolated. Living with PKU is very challenging and relentless, so having friends and people within the community support you and understand your disease is critical as having a strong support network around you enables confidence and supports dietary adherence, critical for future brain and mental health. The Live unlimited Campaign brings together a global community of young adults from all over Europe who share their lived experiences about living with PKU – calling for community support and action for ‘Lifelong care’”.
Young Adult PKU LIVE Conversation – Young PKU Adults Killian Fitzgerald (from Limerick) and Tom Chimiak (UK).
The two young men will sit down and host a video podcast discussing all things ‘Living with PKU’ The two PKU adults met at ESPKU 2019 and want to mark PKU Day 2020 and make the chat real and interactive so we hope as many PKU community and interested people can join (details below).
International PKU Day marks the birthdays of two medics Robert Guthrie and Horst Bickel who diagnosed and developed treatment for PKU. Robert Guthrie (born 28th June 1916), developed the first new-born screening test, and Horst Bickel, (born 28th June 1918), was the first to develop a low protein diet for PKU infants in 1951. Sheila Jones, the first child tested with dietary therapy treated by Dr Bickel, was of Irish descent.
Bernadette Gilroy, PKUAI Spokesperson and rare disease advocate said “This is such a significant day for our community and I am inspired every day by Shelia Jones who was the first patient, of Irish decent, to be treated for PKU. As a community we have come a long way but have a long way to go. We need change and are calling for action and seeking consistent lifelong care for the PKU community. There are multiple hurdles in our way as we navigate the implications of increased use of aspartame, lack of access to quality foods, poor food labelling and still no clear and comprehensive access to Kuvan after almost a decade of campaigning, however the PKUAI is dedicated to seeking best practice for our community”
Please Support the PKU community in celebrating International PKU Day 2020 by sharing a message and/or picture using #PKUDay2020.
For further information contact:
LIVE UNLIMITED EVENT: “Living with PKU in Challenging Times”
‘A Live Panel Event on Facebook’
This Sunday 28th June @ 1pm
Join the Live Unlimited team on International PKU Day this year for an engaging discussion featuring healthcare professionals, patient groups and patients who will share their perspectives and answer questions on:
- Living with Phenylketonuria (PKU) in uncertain times
- The impact of PKU on mental health
- Management of PKU
Panel line-up includes:
· Marianne Foody, Young PKU adult (Ireland)
· Susan Clever, Consultant in Medical Psychology (Germany)
· Johannes Kraemer, PKU Clinician (Germany)
· Agata Bak, Content Manager for the Spanish Federation of Hereditary Metabolic Diseases (FEEMH) (Spain)
· Niko Costantino, Head of PKU Activities, Cometa ASMME (Italy)
Tune into the live discussion on the 28th June using the Zoom link below.
The discussion will also be posted on our Facebook page @PKULiveUnlimited.
Young Adult PKU LIVE Conversation I This Sunday 28th June @ 6pm
Young PKU Adults Killian Fitzgerald (Limerick) and Tom Chimiak (UK)
You Tube Channel – uoutu.be/vPLbghZK5O8
PKU Over 700 Irish people live with Phenylketonuria (PKU 1: 4,500 people), one of the highest rates and most severe cases in Europe. PKU is a rare genetic disorder that affects a person’s metabolism. The invisible genetic disease prevents the body breaking down an amino acid called phenylalanine (phe), a natural substance found in all foods; a building block of protein resulting in 85% of food off limits. If untreated, and/or unmanaged on a daily basis, PKU results in permanent brain damage.
INTERNATIONAL PKU DAY International PKU Day marks the birthdays of two medics Robert Guthrie and Horst Bickel who diagnosed and developed treatment for PKU. Robert Guthrie (born 28th June 1916), developed the first new-born screening test, and Horst Bickel, (born 28th June 1918), was the first to develop a low protein diet for PKU infants in 1951. Sheila Jones, the first child tested with dietary therapy treated by Dr Bickel, was of Irish descent.
PKUAI PKUAI is a voluntary organisation, which received official charity status in 2019 committed to providing help and support to those affected by PKU. PKUAI advise PKU patients to contact the metabolic team at the hospital they attend to secure additional information. Further information @ pku.ie
The PKU Association of Ireland is one of thirty six Irish patient organisations that have signed the charter on Patient Involvement in Medicinal Assessments and Reimbursement co-ordinated by the Irish Platform for Patient Organisations, science and Industry (IPPOSI), with the support of the Medical Research Charities Group (MRCG) and Rare Disease Ireland (RDI), The charter calls on the government to improve transparency, accountability, and communication on how medicines are assessed and reimbursed by the State.
KUVAN® Approval has been made for KUVAN® in specific circumstances*, which will be assessed on an individual basis by your medical specialists. Only a minority of Irish patients will benefit from Kuvan.
DIETARY THERAPY PKU dietary therapy removes 85% foods most people take for granted, including meat, fish, poultry, cheese, milk, bread, flour, rice, pasta, yoghurt, chocolate and all products containing the widely used sweetener aspartame. In addition, all other foods consumed must be strictly monitored for protein levels. Diet is then balanced out with protein free foods and specially manufactured foods where the protein has been removed.
ESPKU The ESPKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria) is an umbrella organisation of about 41 national and regional associations from 31 countries.
LIVING WITH PKU Even when the gruelling PKU diet is maintained, people managing the condition can still suffer long-term irreversible health conditions such as neurocognitive deficits, neurological side effects, growth defects, bone mass reduction, and obesity.