The PKU Association of Ireland (PKUAI) has received a boost from Irish, European and International medical experts in support for their ‘Fight4Visibility’ campaign.
The only medical treatment for PKU, Kuvan, has been refused for funding by the National Centre for Pharmacoeconomics (NCPE) twice. PKUAI are frustrated, as the process is not designed for ‘orphan drugs’ treating rare diseases – which do not and will never have the necessary data to pass the NCPE assessments. Timing is now critical for the PKU community, as the HSE will make its final decision to recommend for or against funding next month.
PKUAI called on Minister for Health Simon Harris, TD, and all government ministers at this mornings Dail press briefing to grant access to best care for PKU, urging HSE approval of funding. The introduction of Kuvan as part of treatment would have a significant short and long-term health improvements for so many PKU people, with a moderately small overall impact on budget.
Speaking in support of the PKUAI campaign, Laurie Bernstein, Acclaimed Professor of Pediatrics, Director of IMB Nutrition, Inherited Metabolic Diseases Clinic; said;
Approximately 1 in every 4,500 babies in Ireland 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.
Eric Lange President ESPKU issued letter of support to PKUAI commenting;
“We strongly believe, that you do not neglect rare diseases, and ensure that patients in Ireland for whom Kuvan could be beneficial will be identified and have access to medication. Ireland is one of the few countries where this is unavailable. This pharmaceutical product is indicated for the treatment of PKU”
Harsh reality – 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 (assisted and managed with Kuvan).
The PKUAI strongly urge the HSE and Government to engage with Kuvan manafacturers and approve funding for the only drug treatment available for PKU. Giving access to this life-changing drug for all eligible to transform the future health of PKU people throughout Ireland.
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 association offers PKU families support, advice and offers leading advancements within the field and management of PKU.
The National Centre for Pharmacoeconomics (NCPE) denied approval for the drug Kuvan after a protracted process. For people living with this challenging condition, the drug can significantly increase their quality of life and assist with the prevention of severe brain damage.
A PKU diet removes 95% 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.
MS, RD, FADA, FAND, is a Professor, Department of Pediatrics, and Director of the IMD Nutrition Clinic, Section of Clinical Genetics and Metabolism at the University of Colorado School of Medicine, Denver; and Children’s Hospital Colorado in Aurora, Colorado.
Laurie E. Bernstein,. Ms. Bernstein received her undergraduate degree in Clinical Dietetics from State University of New York, Buffalo. She received her master’s degree in Administrative and Clinical Dietetics from New York University in New York. A Fellow of the American Dietetic Association and a Fellow of The Academy of Nutrition and Dietetics, Ms. Bernstein is also a five-time recipient of the ADA’s Creative Nutrition Education Award (1997, 2001, 2005, 2008, and 2013) for her extensive contributions. She was presented the Children’s Choice Award for Innovation in 2000, and the Health and Science Communication Association’s Silver Award in 2004. Ms. Bernstein also has a patent for low-protein bacon which is now distributed by Taste Connections. She is a co-founder of Metabolic University, a training forum for registered dietitians, nurses, genetic counselors, and medical doctors and a founding member of Genetic Metabolic Dietitians International (GMDI). She is the co-author of Penny the Penguin Has PKU (English and Spanish), Setting Up Your Low Protein Kitchen, and Max the Monkey has MCADD and Stepping Up Your Protein Intake.