Podcast Review: DNA Today – how one family faced seven ALS diagnoses and chose advocacy

If you want a short, inspiring boost to your day, look no further than a recent episode from DNA Today: A Genetics Podcast. In it, Debbie Lower, whose family has endured unimaginable loss and tragedy from seven amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases in the past 30 years, takes the podcast host Kiera Dineen through her journey of being a caregiver, undergoing genetic testing, and becoming a powerful advocate and educator.

Debbie's story starts in the early 90s with one of her aunts being diagnosed with ALS, or motor neuron disease as it was then termed. This was a time of little understanding, awareness and support, and the family then had no idea that it was just the beginning for them. The tragedy further seeps in as we hear of subsequent family members developing the disease and clinicians rejecting the idea of a hereditary disease as just 'family lore'. Another aunt passed away just one month after finally receiving a diagnosis.

But as a natural communicator, Debbie passionately narrates the progress in science and care since then to today. While a diagnosis now is still life-changing, it is no longer as hopeless, lonely or delayed. She tells of the latest treatments, such as investigational drug Tofersen that anecdotally has reversed symptoms in one of Debbie's friends, and of new technologies, such as AI-based speech interpreters and gaze-controlled wheelchairs that are revolutionising people's quality of life. For such a difficult and emotional topic, I found myself feeling buoyed from the courageous stories that Debbie told.

Although I'm a researcher in the field of dementia, I learnt new science from Debbie as she elaborated on the host's general questions. I hadn't realised that ALS and FTD are on the same continuum of disorders, both involving gradual loss of neural function. ALS can involve cognitive changes as well as the more commonly known bodily changes in motor and speech function. FTD, conversely, is almost entirely cognitive and behavioural.

The episode seamlessly blends this science with Debbie's family story, the genetics of the disorders, and the fraught topic of pre-symptomatic genetic testing and counselling. I've recently become interested in this topic within my own work – we now have biomarker tests that can detect Alzheimer's disease up to ten years before dementia symptoms might start – so I was curious to hear the lived experience perspective from a genetic neurological disease area.

Remarkably, of Debbie's 90 family members, she was initially the only one who wanted to know if she carried the C9ORF gene mutation that characterised their form of ALS and FTD. When prompted on why this is, she responds with a simple answer: 'fear'. Hearing this, I reflected on the reality of implementing 'precision, preventative and personalised' medicine.

This fed into a discussion around the importance of genetic testing. Debbie was incredibly well-versed in the current status of ALS global clinical trials and conferences, highlighting that through innovative platform-structure trials such as the HEALY ALS Platform Trial, more and more people can take part in trials without having as many on placebo. But, as she points out, the only way to join those trials is to know your mutation type.

To help counter fear and lend support to people, Debbie also mentions new guidelines for asymptomatic carriers, which can help people understand when the right time to test and join trials is. A particularly enjoyable anecdote is her re-telling of a time that she held an entire conference of researchers to account when they overzealously misconstrued the issue of genetic penetrance between different ALS mutation types.

The conversation draws to a close around Debbie's current work as a mentor and educator for families at the start of their own ALS and FTD journeys, and how she tells them to 'take a deep breath, keep on taking deep breaths' and 'face every day like a gift'. She points out the importance of sharing not just practical resources around caregiving and signposting, but also mindset resources – such as the podcast 'I'm Dying to Tell You' by Lorri Carey, who has been defying the odds and living with ALS for over 20 years.

If you're interested in the science or experience of genetic neurological diseases like ALS or FTD, or if you just need a little reminder about the good of humanity, this episode is for you. Podcasts which enable Debbie and others like her to get their voice heard and experience shared could help re-shape the narrative and stigma around these genetic diseases – if we all just take a little time to listen.