In the lead up to Rare Disease Day on 29th February, we talk about the mental health impact on the whole family and care-giving unit.

Rare disease affects 350 million people worldwide, which is about 1 in 12 families. There are about 10,000 named rare diseases, but together they affect more people than cancer and AIDS combined.

Diagnosis varies hugely but on average takes 5-7 years, during which time families live with chronic uncertainty. Children are disproportionately affected accounting for 75% of cases. Many of these won't live past their fifth birthday. And so, the load on a family with such a diagnosis, plus the long period of uncertainty waiting for a diagnosis, causes tremendous strain psychologically and financially too as often one parent has to become a full-time carer.

This strain circles out from the patient to the caregiver to the medical professionals, and so there is a systemic ecosystem to address. On top of this, as many living in Luxembourg will already know, such care will require cross-border help, and with this the necessary connectedness of care can easily extinguish.

Cristol Barrett O'Loughlin, given her own family's experience of rare disease, went on to found RareGivers, providing relief to the caregivers. Paige Rivard is now Co-CEO of RareGivers and is former CEO of Prader-Willi Syndrome Association USA. Paige's son Jake is living with two rare genetic disorders plus autism. Together, Cristol and Paige are working to develop the conversation around the chronic stress (CTSD, not PTSD) that caregivers face and offer them a community of relief. Simply being heard and understanding that this is really hard can help; knowing that there is a community who understands what you are going through and support you.

https://www.raregivers.global/

Lara Bloom is President and CEO of The Ehlers-Danlos Society. She is also an Academic Affiliate Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA. Lara explains the mental shift necessary in life expectations with the news of a diagnosis. And still there is great hope in the community of rare disease. Even if the cures don't come as fast as families want, trying to find the greatest quality of life for the whole family is the most important.

https://www.ehlers-danlos.com/

Matt Bolz-Johnson is the Mental Health Lead and Healthcare Advisor at Eurodis, Rare Disease Europe based in Cologne, Germany. This group is helping to try to cross boundaries in every way. Matt advocates for enhancing medical services to be more psychologically informed, to look at treatment from a person-centered way.

You can listen to my interview with the Kavli Centre for Ethics, Science, and the Public at the University of Cambridge on gene editing here.

https://today.rtl.lu/media/podcasts/a/2026490.html