UK Rare Diseases Framework

Part of the debate – in Westminster Hall at 5:09 pm on 24th March 2021.

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Photo of Chris Skidmore Chris Skidmore Conservative, Kingswood 5:09 pm, 24th March 2021

I thank Liz Twist for securing this important debate on the challenges faced by people living with rare diseases. I am delighted to have the opportunity to speak about phenylketonuria, which has been mentioned already, and to put on record my own concerns about access to treatment for this condition, including the drug Kuvan.

I am raising this issue on behalf of constituents who have been in contact with me about it. In particular, I am grateful to Leanne Barnett for meeting me to discuss the impact that PKU continues to have on her twin daughters, who were born with the condition, and on the family as a whole. I really appreciated gaining an understanding of the extraordinary challenges of living with rare diseases such as PKU, and I believe that Leanne’s case illustrates the problems that many people face, which are unacceptable problems in a modern society.

I will not go into the details of the condition, but we know that the main treatment available at the moment is a strict low-protein diet. For anyone who is a parent of young children, babies or toddlers, managing any diet is challenging, but managing a diet with low protein is extremely difficult. Everyday life becomes filled with anxiety, putting incredible strain upon the parents, who know that one mistake might cost the child their life or lead to brain damage. Leanne explained to me that

“PKU life can feel extremely isolating as the condition is so rare. It’s exhausting having to explain the condition and even then most people think it’s just a food allergy”.

She told me that managing her daughters’ diets is

“difficult and time consuming to manage and almost impossible to adhere to well enough for optimum treatment”.

She explained that, as her daughters grew, she would have to

“measure and monitor everything they eat, restricting the amount of natural protein they consume, which was really…stressful”.

This dietary treatment can also be incredibly costly for families, particularly if they are on a low income, which is a real barrier. The drug Kuvan, having been licensed to treat PKU back in 2008, has not been available to patients in the UK, except in limited circumstances.

NICE has published its preliminary assessment on the use of Kuvan, recommending its use for children up to the age of 18, which is welcome, but not necessarily its use for people over 18. I say to the Minister that this is a lifelong condition and therefore we need lifelong treatment of Kuvan on the NHS. Anything less than that will cause enormous distress for those young people with PKU who are making the transition to adulthood, so I urge the Government to consider placing Kuvan within the framework as a priority for the future.