Rare disease affects more people than cancer and AIDS combined - 300 million people worldwide, 30,000 in Luxembourg.
Rare Disease Day is 28 February and unites a global community of families and organisations affected by and focused on how to help those with rare disease and their caregivers.
I spoke with Cristol O’Loughlin, Founder & CEO of ANGEL AID CARES, Dr. Alison Skrinar, Vice President of Clinical Outcomes Research & Evaluation, ULTRAGENYX Pharmaceutical Inc. and Shirley Feider-Rohen, President of ALAN - MALADIES RARES LUXEMBOURG. All of these women are invested personally and professionally in the Rare Disease community.
There are no cures for rare disease: most are serious, chronic and progressive. Half the patients are children and a third won't live beyond their fifth birthday. This puts an incredible burden on families, particularly mothers who are primary caregivers 82% of the time.
Globally, about 4-6% of the population is affected by rare disease.
Shirley Feider-Rohen discovered she had a rare disease in adulthood, and passed on the gene to one of her two sons. Sometimes she asks him if he minds and his wonderful, loving, poignant reply is:
"No Mom. You have so many good qualities. It doesn't matter that I have just one bad one."
There has to be a multi-pronged, global effort to support families:
- Pharma companies, such as ULTRAGENYX, work with patients as partners to ensure patient-focused drug development
- Support for the caregivers coping with often complex medical and school situations, with the high prospect of their child dying before them. It is isolating and unrelenting work for the family unit.
- Patient empowerment - aided by community support, representation and awareness
- Even if there are no cures currently, increase the quality of life for both patient and family.
Watch Cristold's TEDx talk, given in Luxembourg, here.
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