In January I was invited by the NSPKU (National Society for Phenylketonuria in the UK) to attend their PKU Voices event; Listening to the experiences of people living with PKU. PKU is short for Phenylketonuria, a disorder where the person can not break down one of the amino acids (phenylalanine) found in protein. This can lead to brain damage in babies and young children if concentrations of phenylalanine remain high in the blood.
Phenylalanine is found in all protein foods so the diet is a very restrictive low protein diet with amino acid supplements that contain all the amino acids expcept phenylalanine.
You can find out more about it in our PKU section of the blog.
I work in one of the bigger centers for adults with inherited metabolic disorders, which means I work with a big caseload of adults who have PKU. PKU is a rare disorder in the general population (incident 1:10,000) and there is little awareness of this disorder by the public.
Low protein canapes
People haven’t heard of PKU, but they do remember that babies have a heel prick test in their first 5 days of life.
They don’t realise that PKU is one of the disorders screened for on this test and the brain damage high phenylalanine concentrations can cause if not picked up at birth. Everybody has heard of Cystic Fibrosis (incident 1:2,500), which is also screened for in the same heel prick test. Both disorders need intensive medical and dietetic support, yet PKU is lagging behind in services and what can be offered to them by the NHS.
Treatment is a low phenylalanine diet
A low phenylalanine diet is the mainstay of treatment in the UK (cost ~£15,000 plus per year), but the diet is very restrictive and affects quality of life, meaning that a lot of adults relax or stop their diet altogether which also leads to a poor quality of life (against current guidance of diet for life – van Wegberg et al 2017).
Dietitians and patients are frustrated at the current UK prescription system that is set up for drugs, not special dietary foods.
Members of the NSPKU committee
This makes it difficult to get the correct dietary products to maintain the diet. There is a drug option (BH4) that could allow 20-40% of people with PKU to relax their diet making it easier to follow, while still maintaining low phenylalanine concentrations.
The UK is one of only 4 European countries that do not have access to this drug (others being Finland, Greece, Ireland and Poland), mainly due to the price.
The event by the NSPKU was to highlight the difficulties of people with PKU and to raise awareness to the public and parliament, to help fight for better access to services and drug treatments. The event was held in Central Hall Westminster, opposite Westminster Abbey. I traveled down to London with our clinical psychologist who also works with people with PKU.
The event was hosted by MP Liz Twist. In Liz’s constituency lives a little boy with PKU whose parents had come to her for support to raise awareness and fight for access to drug treatments. Guests included MPs, clinical staff working with PKU, Sian O’Shea (Chairman of the British Dietetic Association) and of course people and parents of children living with PKU.
Mel (IMD dietitian, Sian (Chairman of the BDA) and myself.
Difficulties facing people with PKU
MP Liz Twist introduced the evening, followed by Professor Anita MacDonald who reported on the NSPKU survey that had been filled out by 600 people with PKU. Interspersed were short films of people who have PKU and the difficulties they have to cope with.
The main themes coming out of the survey include the difficulty of the very strict low phenylalanine diet, the difficulties sticking to it (children and adults) and the impact of the stress on that person and their family managing it, plus the problems if it is relaxed. The worry and anxiety of pregnancy for women (high phe concentrations during pregnancy cause brain damage to the unborn child) and the frustration that drug options are not available in the U.K. as they are in the rest of Europe and the USA.
Eric Lange the chairman of the NSPKU closed the event and summed up that ‘PKU is a hidden condition which is easily ignored and, very often, misunderstood’. An all-party parliamentary PKU group has now been set up which will meet to help improve the lives of those with PKU. It was a very interesting and moving event highlighting that people with PKU need better support in the UK.
A lot of the symptoms are hidden as people put on brave faces, but delve into how they are coping and living their lives, it is a different story.
The London Eye across the river Thames
For more information and to find out what the NSPKU are up to, then check out their website for updates. If you feel you need more help and support with your PKU or low phenylalanine diet, please get in touch with your local IMD center.
June 28th is International PKU Day and it is also the 100th anniversary of Horst Bickel’s birth. Horst Bickel was the pioneering German doctor who, together with colleagues at Birmingham Children’s Hospital, successfully treated a patient with PKU for the first time. So keep an eye out for the celebrations!
Reference van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. The complete European guidelines on phenylketonuria: diagnosis and treatment. (2017) Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2.
Disclaimer: All views are my own. A shorter version of this post appeared first in our Dietitian’s Life column in the NHD Magazine.