HD (Huntington’s disease) Gratitude Day 2024

March 23^rd 2024 marks the second annual HD Day of Gratitude. This day has been adopted into the HD calendar to celebrate and give thanks for the discovery of the gene that causes HD back in 1993. In this blog, we want to take a little time to reflect on what we are thankful for in HD research.

HD is an inherited neurodegenerative disorder, caused by a mutation in the huntingtin gene. Symptoms associated with the disease include problems with movement, thinking and behaviour, which start to appear in mid-life. The discovery of the huntingtin gene 31 years ago led to a rapid increase in our understanding of the biology of HD and how the characteristic loss of brain cells is caused. However, we still have no effective treatments that can slow down or stop disease progression. Despite our best efforts, HD is still an incurable disorder that has devastating effects on the families affected by it.

In the Centre for Trials Research we work with a multi-disciplinary group of researchers here in Cardiff and more globally to help in the identification, development and evaluation of potential disease modifying therapies. These include both ‘traditional’ drugs and advanced therapies, alongside non-medicinal interventions which can be used to support healthy living and general wellbeing of people with HD.

We like to focus on that fact that at the heart of everything we do are the patients and families that we strive to make a difference for. We are incredibly fortunate that we have an extremely dedicated group of people with lived experience of HD who provide support for our research programs and trials. They are an integral part of the research team and we are forever grateful for their tireless dedication to the research.

We asked one of our research partners, Guy, on HD gratitude day what being involved in research means for them and what are they thankful for:

Ask yourself this question: Why be driven to be involved with research?

As such a driven person, why did I get involved. Here’s the shortened long story: It first derived from a test for Huntingtons. There was a diagnosis and the offspring, my wife, wanted to know her fate. A positive test ensued which lead to a journey of discovery, awareness and connection. One could ask me why bother? ……..I want to make a difference! When attending clinic and meeting others in my position and sufferers of the condition who may not have the time, I say I have the time and the ability. I challenge myself about how far can this journey run. There’s still no cure therefore journey is not done.

Early steps in the trip led to involvement with the HDA at local level in South Wales and then into the HDA’s voice group, from that HD clinic had trials for therapies and analysis – an opportunity for “glutton for punishment”, well OK then! The HD clinic leader led me into Brain Involve, now Brain Unit. Joining the unit meant Health and Care Research Wales membership. I’d followed one road at a time up to then, with HCRW, there’s a roundabout with many exits, a spaghetti junction of choice and not a baked bean in sight!

I’ve taken quite a few turnings, and here, as of now, there’s quite of list. One being the Genomic partnership Wales (GPW) joining its sounding board, furthermore chosen to be a rep at it’s governance level. Genetics is a buzz word for HD, moving into genomics seemed a natural jump forward. There’s a huge amount of learning material through all these organisations.

Gaining knowledge and understanding the professionals allows me to support them.

What difference do I make?

At quite a few stops on my highway I have volunteered to help researchers with wording within their projects, they seem to be stuck in highly academic speak. Me, a PPI, to the rescue making wording understandable for the everyday person who will take part in the work – where did that cape come from! In a recent Bio I wrote about ideas jumping in my head, once I start to ‘jump’ there is no stopping me – I don’t have enough hands to write them down. An AI octopus robot may not keep up! I’m struggling to write this for the same reason.

I’m grateful for every involvement opportunity, each are different and create a new challenge, there are so many amazing people in the HD network, we all are on different roads but on the same journey.

The gratitude works both ways. An appreciation of mutual talent, the desire to make a difference. Communicate, understand, support, empathize, encourage, congratulate.

Together we make the difference!