IRISH PKU RARE DISEASE PATIENTS SHARE
PKU AWARENESS ON HISTORIC DAY
Inaugural ‘Patient Voices’ Breakfast Briefing’ on Irish PKU Journey
Today, Thursday 28th June, The PKU Association of Ireland (PKUAI) join PKU organisations all over the world to celebrate International PKU Day and raise awareness about the rare metabolic disease.
In Ireland today over 700 Irish people live with Phenylketonuria, or PKU (1: 4,500 people), one of the highest rates 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 food; a building block of protein. If untreated, and/or unmanaged on a daily basis, PKU results in permanent brain damage.
To mark this important day, the PKUAI host their inaugural Breakfast Briefing Event: ‘Patient Voices: The Irish PKU Journey’ at Buswell’s Hotel. The event welcomes members of the PKU community – adults living with PKU, parents of children living with the disease and carers to talk about living with PKU and the challenges faced. Also speaking; Bernadette Gilroy, PKUAI Spokesperson and leading dietician ESPKU Member Kirsten Ahring, special guest, to discuss the evolution of PKU treatment’.
“The future looks bright for Irish PKU patients with significant new treatment options becoming available internationally including Kuvan, PEG PAL and Phelimin”, Kirsten Ahring, member of ESPKU scientific committee.
The historic day falls on the centenary birthday of Dr Horst Bickel who was responsible for developing dietary therapy, which assists prevention of neurological damage caused by PKU (Phenylketonuria) and the birthdays of Dr Robert Guthrie – inventor of newborn screening (Heel prick test). Sheila Jones, the first child tested with dietary therapy treated by Dr Bickel, was of Irish descent.
Bernadette Gilroy, PKUAI spokesperson at the briefing said;
“Today we celebrate the Irish PKU journey – hero’s throughout Ireland living and managing PKU on a daily basis and honour Sheila Jones, the first child tested with dietary therapy treated by Dr Bickel, of Irish descent.” She added; “PKUAI are delighted to have recently contributed to the managed access programme document for using kuvan in clinical practice. We understand the next step is to bring this document to the HSE drugs group and we, as a patient organisation, eagerly anticipate a positive outcome to this protracted process* for our PKU community “ (*Kuvan received regulatory approval in EU in 2009)
The breakfast welcomes various stakeholders; PKU patients & families, clinicians, disability organisations, policy makers, researchers and politicians including ministers and local TDs.
PKUAI are asking people to support the PKU community today and help raise awareness by learning about PKU @ pku.ie. Read, learn and share your support socially (see below). Donations can be made @ pku.ie (http://pku.ie/donate/).
‘Join me. Support @PKU_Ireland for #PKUDay2018. Help raise awareness about this challenging rare disease. Read, learn and share @ pku.ie #PKUAI #EmpoweringPKU #PKUDay #PKUAwareness’
For further information contact:
PKUAI Empowering PKU
PKU is a rare metabolic condition for which Ireland has both one of the highest rates, and most severe cases* in Europe. Approximately 1 in every 4,500 babies is diagnosed with PKU, and everyone born with the condition must adhere to a strict low-protein diet or irreversible mental and physical disabilities will develop.
The PKUAI offers PKU families support, advice and offers leading advancements within the field and management of PKU.
PKU patients living with this challenging condition can significantly increase their quality of life and assist with the prevention of severe brain damage if they are a match for the only drug currently available on the market to treat the condition – Kuvan.
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.
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.
PKU REALITY – Even when the gruelling PKU diet is maintained, some 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.