Issue 134 politics of pku

FOCUS ON PKU

THE POLITICS OF PKU Suzanne Ford NSPKU Dietitian for Adults Suzanne Ford is a Metabolic Dietitian working with Adults at North Bristol NHS Trust and also for the National Society of Phenylketonuria).

How does being on a special diet for PKU encourage political activism?

If you are a patient needing a special diet such as in Phenylketonuria (PKU), or if you are a dietitian involved in treating PKU patients, you might not envisage political involvement as part of your life. However, for the PKU community, political action has never been greater.

NSPKU has recently become politicised in the last 18 months, as this is a way to achieve better resources for the treatment of PKU community in the UK, and ensure better outcomes in the future.

PKU affects 1 in 10,000 in the UK and demands that those affected follow an ultra-low protein diet for their whole lives, with the addition of protein substitute taken in divided doses through the day. This treatment impacts on every aspect of a patient’s life school, work, holidays, home life and travel. The consequences of stopping treatment, or of under-treatment, are neurocognitive impairments, depression and anxiety and maternal PKU syndrome if conception and gestation occur in uncontrolled PKU. In January 2017, the European Guidelines for the Diagnosis and Management of PKU were published and it was clear that the resources allocated to PKU treatment in UK specialist centres meant that the standards of care needed could not be met.

One example of how the European Guidelines for best care in PKU cannot be met in the UK relates to BH4 or Kuvan.

This is a drug treatment available for activating the enzyme affected in PKU, in those patients who do have residual enzyme activity. (The drug is less likely to work for those who are missing the enzyme completely.) This drug, BH4,

sapropterin or Kuvan, is available in 24 other countries across Europe, but not in the UK (or Poland, Ireland or Greece).

THE NSPKU SIX DEMANDS FOR CHANGE:

• Everyone with PKU (adult or child) will be treated and followed up at a specialist metabolic centre.

• All those with PKU, including adults who are off diet or lost to follow up, will have lifelong systematic follow up in specialist metabolic centres.

• There will be fair, equitable and transparent commissioning of nondietary treatments for PKU such as BH4 (Kuvan).

• All patients will be entitled to BH4 responsiveness testing.

• The availability of prescribable foods (a lynchpin of dietary treatment) will impr ove.

• Both psychology support and neurocognitive assessments will be available.

WHY DO PEOPLE LIVING WITH PKU WANT CHANGE?

The frustration amongst the PKU community is that dietary treatment is not taken seriously as a therapy which needs resourcing properly to be successful. The resources that are currently used are 19 hours a week on average of parental or carers’ time - this is usually maternal time and means that mums can’t work, or certainly can’t work full time, but instead give up their careers to ensure their children’s safe PKU treatment. The strain of this complex dietary management throughout childhood also jeopardizes parental mental well being - there www.NHDmag.com May 2018 - Issue 134

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FOCUS ON PKU is evidence that 59% of carers are clinically depressed.

The resourcing of adult treatment within metabolic centres is such that the support by healthcare professionals for adults and their selfmanagement is also lacking.

WHAT IS THE DEBATE ABOUT THE SUCCESS OF DIETARY TREATMENT AMONGST THIS GROUP OF PATIENTS?

The success of dietary treatment is variable as it is so onerous a treatment to successfully implement. The time taken to get prescriptions and do bloodspots may all reduce slightly in adult life, and the taking of a protein substitute three times a day is not as onerous as supervising a child; however, the planning, preparing and production of low protein food is unlikely to be less time-consuming.

In order to place pressure on NHS decision makers to increase their awareness of the PKU community’s plight, NSPKU have approached members’ MPs about forming an APPG which held its inaugural meeting on 7 March 2018.

WHAT IS AN ALL PARTY PARLIAMENTARY GROUP (APPG)?

All Party Parliamentary Groups (APPGs) are groups with cross-party membership of MPs and peers, which meet to discuss, campaign on and promote a certain issue. APPGs have no official status within parliament. However, working with APPGs can be a great way for a particular community to increase the visibility of their issues, connect with organisations working in their field and build relationships with parliamentarians who may be willing to support their common cause. They can also provide the

CASE EXAMPLES Denise Denise Clayton is 59 and was diagnosed with PKU when she was just over a year old - newborn screening was another 10 years away. Denise was diagnosed at a point when she couldn’t support herself to sit up.

However, she improved greatly on a PKU diet (although was extremely reluctant with her protein substitute) and even started walking.

Denise came off diet at about aged four, she went back on it briefly, but no further improvements were seen, so it was deemed that, in her father’s words, “We had to accept they had done their best.” Denise has spent a big portion of her life in special schools, with a turning point in 2005, when the Independent Living Fund allowed Denise to have a routine of carers coming to visit her in the home she lives in next to her father.

87 year old Norman Clayton has always championed the best care for his daughter and has been a political activist all of his life. Norman and Denise and their lives with late treated PKU, were already known to Chris Williamson MP when the NSPKU campaign began, and Chris is very happy to be a part of our APPG, highlighting the vulnerability of the late treated group of patients such as Denise.

Cait Cait Cotter is a 10-year-old schoolgirl and passionate swimmer who has PKU and was diagnosed via Newborn screening. Cait is on 11 PKU exchanges per day (that is 11g natural protein daily, alongside 520mls of amino acid solution daily, in three divided doses. Cait is currently No 1 in her county for 100m backstroke and ranks in the top 25 in England for many events, including 200m butterfly, which is eight lengths of the pool). She trains five times a week (on one day a week her training starts at 5.30am!). On race days Cait has cold low protein pasta poolside, to keep her refuelled.

Cait’s Mum and Dad took her to meet their local MP Vicky Ford in Vicky’s first constituency surgery, to tell her all about PKU and the challenges Cait experiences. Vicky Ford was already a member of the Rare Diseases UK APPG, and was very interested to hear Cait’s story.

On 22 March 2018, soon after the formation of the APPG on PKU, Vicky spoke in parliament (at an adjournment debate) about Cait and the frustration she has. During the month Cait experienced a free trial of BH4, sapropterin or Kuvan, Cait’s protein tolerance increased threefold and she could enjoy food without fear or caution. Her energy levels, mood, alertness and focus improved as well. However, once the trial month ended, Cait returned to her life of permanent hunger, and a whole day ruled by limited food and drinking protein substitutes.

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NSPKU has hosted two events so far for MPs to attend . . . we also wanted to set out our concerns and real life stories to significant metabolic stakeholders, such as metabolic teams across the UK. opportunity to publicly scrutinise policies or to contribute to reports which may make national headlines. There are many communities who have an APPG taking forward concerns - on 2 May 2017, there were 630 APPGs registered in parliament.

HOW DID NSPKU AND THE PKU COMMUNITY GET AN APPG?

People living with PKU have undertaken an awareness raising campaign like never before.

Many people have written letters and met MPs in their constituency surgeries. 630 people have completed the biggest survey on life with PKU, that has ever been done so far in the world and some have elaborated by telling their story in depth in print or to the camera. They have helped explain to MPs, just how very challenging the PKU diet therapy is and how hard the disorder can be when it is not well controlled.

NSPKU has hosted two events so far for MPs to attend - the first was in June 2017 held inside the House of Commons and needed us to have an MP host at the event. Our second event was in a nearby venue and similarly focused on MPs as the important guests. However, we also wanted to set out our concerns and real life stories to significant metabolic stakeholders, such as metabolic teams across the UK. Liz Twist MP for Blaydon leads the APPG for PKU and it has 28 parliamentarians on it as members. Some of the parliamentarians have promised to have a low protein diet in order to build empathy, understanding and solidarity with their constituents on International PKU Awareness Day (28th June 2018). However, a serious campaign of letter writing, meetings, tabling of questions and so forth, has already begun.

WHAT NEXT?

The APPG’s first move was to sponsor an Early Day Motion (no 1044) raising awareness of PKU and calling for a swift conclusion to the

appraisal for Kuvan. (An Early Day Motion is a motion submitted for debate in the House of Commons, the subject of these is not always debated, but they can attract public interest and media coverage and can be used to demonstrate the level of parliamentary support for a specific cause of viewpoint.)

The APPG will be active as long as this government is in power, unless the protagonists disband for any reason. The Members of the APPG will be in discussions with the Department of Health, where possible, NHS England, and the respective authorities in Scotland, Wales and Northern Ireland. The intention is to have transparent and fair discussions about drug commissioning in rare diseases, specifically for PKU, both for BH4 and another in the pipeline Pegvaliase - in future years.

However, we must explore how better treatment of PKU can be achieved going forwards by realising those changes that NSPKU set out in its initial Call to Action which do not relate to pharmaceutical interventions - that is access to psychology and neuropsychological testing and improved access to prescribed products via primary care. We must achieve systematic gold standard care for all in the UK who have PKU. WHAT CAN DIETITIANS AND CLINICIANS TREATING PKU PATIENTS DO?

Sometimes patients and families feel resentful or antagonised by having a rare disease or metabolic disorder. Patients in the NHS can become frustrated with the treatment on offer, or the way it is delivered or dispensed in the community. Dietitians can encourage patients and their families to write to their MPs and tell them about what living with PKU is like. This feeling of empowerment and telling your story is known to have a beneficial effect on acceptance of a disorder; however, it might help in a wider way as well. www.NHDmag.com May 2018 - Issue 134

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