On February 22nd, I organised a meet up for families affected by DRPLA who are based in Wales. I travelled to Cardiff with Dr Hector Garcia-Moreno and Ola Volhin, who work at University College London on the DRPLA Natural History and Biomarkers Study.
We met with eight family members that care or have cared for loved ones with DRPLA and two people with DRPLA. Even though all of them live nearby, they had not met before – this was probably the largest in-person gathering of DRPLA families to date!
The families found reassurance in meeting each other and sharing their experiences. With DRPLA being so rare, it is quite unique to find others that know so much about it. We talked extensively about the impact DRPLA has had on all of them and how difficult it is to cope with a progressive neurological condition that has no treatment or cure available. It can also be difficult for families to talk about genetic testing for all of those that are at risk of inhering this condition. I was able to remind the families about the support and services offered by Ataxia UK.
There was time to talk about participation in research as well. Currently, there are two projects in which people can participate, the CureDRPLA Global Patient Registry and the DRPLA Natural History and Biomarkers Study.
One mother whose son was diagnosed with DRPLA a couple of years ago and is progressing quickly mentioned the videos made by Junko Shiozawa, our Advisory Board Member. Junko’s YouTube channel helped her understand juvenile progression and prepare better for what lies ahead.
Even though it was an emotional day with individuals sharing stories about some difficult times they have gone through, their strength and positive approach are admirable. For me, it was a great reminder to keep working hard towards our goal of advancing DRPLA research in hopes of finding a treatment.
Quotes provided by some of the families present at the event:
‘Thank you for organising this event. I don’t think any of us stopped talking. I’ve never met any other family who have the same condition in the 24 years I’ve known about this condition. Let’s hope we can do this again.’Emma Davis
‘It was quite inspiring meeting other families and their strength’Diana James
‘What really hit home for me was the families sharing their experiences and support difficulties of caring for a loved one who is suffering. This brought all the memories back of my own family’s journey many years ago. We were alone and 18 years on, these people feel the same. I hope they will find some solace in being in touch with each other and the knowledge of the wonderful work you are all doing.’Katherine Roberts