Podcast Review: Patient Involvement and Making Lived Experience Count in Regulatory Decisions

The Rare on Air podcast series covers an impressive array of topics relating to rare diseases around the world, with episodes dedicated to information, medication and legislation – and a focus on allowing patients to tell their stories. The series is produced by EURODIS, Rare Diseases Europe: a coalition of over a thousand rare disease organisations.

This episode focused on the condition metachromatic leukodystrophy (MLD). Host Julien Poulain spoke with Tomasz Grybek about being a father to teenage son, Borys, who has the condition, the family's struggles to access treatment, and his journey to becoming a patient representative on the European Medicines Agency's (EMA) Paediatric Committee.

MLD is a genetic disorder occurring in an estimated one in 40,000 births and is characterised by a crucial enzyme deficiency. Without the enzyme Arylsulfatase-A, sulfatides that destroy the protective myelin sheath around nerve fibres build up, leading to irreversible damage to the brain and nervous system, and cognitive and motor symptoms that are progressive. Treatments focus on slowing or stopping the progression of the illness, and early access to the treatments, before symptoms progress too far, is of utmost importance – a key theme of the episode.

Where they live in Northern Poland, the Grybek family believed their only hope for Borys' treatment was to travel to the United States for a particular form of gene therapy. Then, on an online article chronicling the family's big move, a commenter mentioned that there was a facility in Southern Poland that was engaged in the exact same form of therapy. Grybek explained that he was wary, knowing that not everything you read on the internet is true! However, and thankfully, the article was accurate and the family was able to get Borys' care transferred back to Poland. This anecdote highlighted the lack of information regarding treatment availability, and the burden on families attempting to get the best care possible for their children, while the clock is ticking.

In the years following the treatment – without which, Grybek said, his son would not still be here – Grybek became a rare diseases advocate, eventually becoming an advocate at the European level at the Paediatric Committee of the European Medicines Agency.

One of the key themes Grybek, as a patient representative, stressed is a focus on the biopsychosocial wellbeing of patients, not just the biomedical. Treatments and medical legislation are important, but so is the lived experience of the person affected. Grybek didn't go extensively into how his son's illness affects him personally, which I found tasteful from a disability activism standpoint, and fitting behaviour from a rare disease advocate and loving father. Instead, he focused on the things Borys loves – reading, podcasts, jazz music – and the efforts he and his wife go to ensure Borys has a good quality of life, including taking him travelling and to live jazz concerts.

Other insights from a patient representative standpoint include the crucial importance of treatment affordability and availability. Experimental therapies are tested in clinical trials for many years – the years that are so vital to slowing or stopping the progression of the disease.

Grybek also stressed that his position is a responsibility, and in return he has rights – specifically voting rights; a real say in the activities of the EMA. However, as part of new EU general pharmaceutical legislation, which originally appeared as though it would cement patient involvement activities in committees regulating medicines in Europe, an update from negotiations suggested in fact patient voting rights could be removed and patient involvement reduced. EURODIS is currently calling on EU policymakers to safeguard strong and meaningful patient involvement with the campaign #KeepPatientsVoting.

As a person with a rare endocrine disorder myself, the phrase that stayed in the forefront of my mind throughout the podcast was the mantra I'd always ascribed to the disability rights activists of the 1990s: Nothing About Us, Without Us. Imagine my satisfaction when Grybek uttered the phrase in relation to his role and the voting rights, and my surprise at learning it actually originates from central Europe, and was the name given to Poland's 16th Century constitutional legislation: 'Nihil novi', from the Latin 'Nihil novi nisi commune consensu', which translates as: 'Nothing new without common consent'.

In sum, this is an informative podcast that really gives centre stage to Grybek, with the host rarely interjecting except to nudge the conversation along. If I was feeling nit-picky, I might call out the back-seat role of the host as a negative, but interviewee Grybek is such an engaging speaker, who delighted with endearing turns of phrase such as: 'Having a treatment on the market that is not available to you is like having a lollipop behind a glass window', that I can't really complain!

It's worth a listen if you're interested in rare diseases, disability activism, treatment development, and medical legislation. My takeaway is #KeepPatientsVoting and the importance of helping the thousands of families living with rare disorders across the EU continue to have a say in the legislation that affects them.