PKU United panel

A patient panel discussion on Living with PKU was held at the NSPKU conference in May 2024. Chaired by Polly O’Connor, and with heartfelt thanks to the panel for sharing their experiences and difficulties with the packed conference hall. Annie Skidmore, Jasmin Port, Richard Farquar, and Miriam Bier: your courage was much appreciated.

This year, the panel was called PKU United. Because we are stronger as a united community.

Recognising common and unique experiences with PKU

One of the consistent highlights of NSPKU conferences over the years has been the patient panel. This year, the panel was called PKU United. Because we are stronger as a united community.

The panel reflected on the fact that people with PKU are now not all on the same treatment. Some may have had a wonderful few years experimenting with new treatments and opportunities. Others may have had a very difficult time discovering that certain new treatments are not available, or effective for them.

Strength in our PKU numbers

We need the PKU community to be a safe place to celebrate, commiserate, and campaign together. The first step is to acknowledge that there are now different treatment experiences within our community. Basically, change is happening.

Hopefully, change will be for the better, that is certainly what the NSPKU campaigns are about. What is certain is, now more than ever, we need to know we are not alone. And that takes work. We need to work on our ties to ensure we can help each other remain a cohesive, supportive and forceful patient community.

It is impossible to replicate the full discussion in a blog post. So I will finish with my answers to the concluding questions.

We need to work on our ties to ensure we can help each other remain a cohesive, supportive and forceful patient community.

The best thing about PKU for you in the past two years

The effect which the approval of sapropterin as a treatment on the NHS has been marked for many families. The effect on the future of PKU treatment in the UK can be harder to see, but it cannot be underestimated.

For the first time ever, the NHS and NICE have admitted that people with PKU need a treatment beyond diet. The restricted diet treatment has saved many lives since it was developed in 1953. But it is a difficult treatment to follow every day of your life with no respite. For the NHS to admit that a treatment beyond diet is needed, and must be allowed, is a gigantic step. One which opens the doors for other possible future treatments.

The Worst thing about PKU

Sapropterin testing. Not simply because of the disappointment of it not working for me, but the gruelling process. I was effectively on a scientific trial for two years which trying to manage daily life and the effects of PKU. Only now, out the other side, do I appreciate how much of a toll it took on me, my family, and my friends. I will always be grateful for the opportunity to trial a new treatment, but wow it was hard!

My hope for the future of PKU

Now that there is finally an admission that restricted diet therapy cannot and should not be the only treatment for PKU available on the NHS, I see a bright future ahead. It will take time for new treatments to be developed and trialed in the UK; however, there is now precedent and established practice for this to happen.

We, as a PKU community, need to campaign together to ensure that lessons are learned from the current role out, and so that others do not need to wait years for a possible treatment. (Side note: if anyone can explain why adults are not allowed on the sepiapterin trials currently being undertaken in the UK, please get in touch. This feels like a discrimination case waiting to happen!)