Global Genes Team Shares Their Stories on World Rare Disease Day
February 27, 2023
My daughter Juno was diagnosed with a very rare, severe neurodevelopmental condition called STXBP1-related disorder six years ago. I distinctly remember receiving Juno’s diagnosis, hearing from our geneticist that he had never diagnosed another patient with STXBP1, and feeling incredibly alone. We were lucky to eventually find an amazing, resilient STXBP1 community.
My personal introduction to rare disease started with STXBP1 but continues to expand as I meet more inspiring rare disease patients, families, advocates, and advocacy organizations. With over 10,000 rare diseases and counting, these numbers continue to grow.
Rare Disease Day is an opportunity to honor and raise awareness of rare diseases and the impact on patients’ and families’ lives.
I am privileged to serve as the new CEO of Global Genes, which recently merged with RARE-X. With our shared mission and vision, we will continue focusing on next-generation advocacy by supporting individuals with the tools and resources needed to accelerate advocacy efforts and also support opportunities to drive research and therapy development.
Charlene Son Rigby
CEO, Global Genes
We asked others on the Global Genes staff what Rare Disease Day means to them. This is what they said:
Over 20 years ago, our family began our journey with rare disease. In our case, my 4-year-old son was diagnosed with Juvenile Dermatomyositis. And much like the five stages of grief (denial, anger, bargaining, depression, and acceptance), coping with a rare disease diagnosis has its own unique stages. One of those early stages is loneliness. For many rare disease families, the path to diagnosis feels isolating, and it often takes months to meet another family battling the same rare disease. For me, Rare Disease Day ends the loneliness. It reminds me that even though our family is rare, we are not alone. We join the millions of other driven and resilient families on this rare journey. Rare Disease Day lets us show our strength in numbers.
– Tom Hume
Global Genes Marketing
Rare Disease Day was a real discovery and awakening for me. Until my first Rare Disease Day, I had no idea of what advocacy beyond one specific disease looked like. The idea of combined efforts under one umbrella was reassuring and inspiring to me. Coming from Menkes Disease which has about 60-80 known living patients, suddenly bigger efforts seemed possible.
– Daniel DeFabio
Global Genes Community Engagement
Rare Disease Day reminds me that although caregivers like me often feel isolated, we are not alone! It reminds me that although my daughter’s diagnosis is ultra-rare it is not unique and this gives me hope. I have the opportunity to promote information about my daughter’s diagnosis out to the public, unfamiliar with Phelan-McDermid Syndrome. Rare Disease Day helps me create awareness in the places my daughter really NEEDS it – our doctor’s a offices and Biopharma.
– Megan O’Boyle
Patient Engagement Lead
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