For those with HCU - Experience of diagnosis and patient satisfaction https://www.hcunetworkaustralia.org.au/experience-of-diagnosis-and-patient-satisfaction/
IRISH, EUROPEAN AND INTERNATIONAL BACKING FOR PKU CAMPAIGN SECURED
PKU FAMILIES PLEA TO MINISTER FOR HEALTH & HSE TO GRANT FUNDING CURRENT PKU TREATMENT IN IRELAND DOES NOT MANAGE DISEASE
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.
PKU is a rare metabolic condition for which Ireland has both one of the highest rates, and most severe cases* in Europe. A PKU diet removes 95% normal foods from the daily diet.The Irish PKU Community wants access to treatment currently widely prescribed and reimbursed throughout Europe.
The ESPKU (European Society for Phenylketonuria) recently published best practice PKU guidelines. The guidelines support PKUAI campaign for Kuvan acknowledging the best clinical treatment for PKU is not diet alone, as prescribed in Ireland, but a combined approach of diet and medication. The guidelines state;
§ Kuvan improves brain cognition and behaviourial issues.
§ A minority of classic (Irish) CPKU may benefit from Kuvan.
§ Kuvan efficacy and safety has been demonstrated in children as young as newborn babies, leading to European approval in under 4 age category.
§ Every PKU patient deserves consideration of Kuvan responsiveness.
Speaking in support of the PKUAI campaign, Laurie Bernstein, Acclaimed Professor of Pediatrics, Director of IMB Nutrition, Inherited Metabolic Diseases Clinic; said;
“An average adult diet consumes 70grams protein per day, compared to 4 grams for a PKU diet (1 small potato). In our experience (over 100 years) at our metaboilic clinics (Denver CO, Boston MA, Portland Oregon and Orange County, California) in treating over 600 patients with PKU, we have found that responders to sapropterin are more likely to maintain blood phenylalanine within treatment range resulting in improved neurocognitive functioning. Patients that are treated with diet alone are rarely able to maintain metabolic control of blood phenylalanine within treatment range. The diet is socially isolating and financially burdensome. We concur that all methods available for the treatment of PKU should be offered in order to improve outcomes and quality of lifefor our patients with PKU”.
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.
Kuvan is widely available throughout Europe since 2009. The drug critically improves immediate and long-term mental functioning for users as well as allowing increased amounts of ‘normal daily food’. Kuvan is currently approved for use and reimbursed in: Austria, Belgium, Bulgaria, Czech Republic, Denmark. Estonia, France, Germany, Hungary, Italy, Netherlands, Luxembourg, Norway, Portugal, Romania, Russia, UK (maternal), areas of Sweden, Lithuania and Denmark.
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).
UK mother Mandy who has child with PKU explained;
“My son Charlie age 13 has Classical PKU. Since starting Kuvan almost four years ago he has gone from 3 to 15 exchanges. In some recent months an increase in his medication dosage has allowed further allowances in his dietary management to 18 exchanges. Before Kuvan Charlie had not ever been above 5 exchanges and at birth at his initial diagnosis his levels were over 3000 which highlights how classical he is. After commencing kuvan almost four years ago, he received an MBE (My Best Ever) for excellent concentration at school. He now eats a more normal healthier diet. Charlie has not experienced any side effects since starting Kuvan. Charlie will continue to use Kuvan until further advances give him a completely normal diet. I strongly support the Irish PKU community in their ‘Fight for Visibility’ campaign and in their pursuit for optimum PKU patient care in your country. Kuvan has greatly improved our quality of life by the relaxation of the severely restrictive diet. Charlie is very happy and just wishes all his PKU friends could have the same treatment”
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.
For further information contat: Emer O’Reilly @ +353 86 859 3658 firstname.lastname@example.org.
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.