When our daughter was born in 2020, we, like so many generations of first-time parents before us, fell in love with her at first sight and marveled over her sleepy eyes, tiny hands and feet, full head of hair, and cute, mewing cry. However, in the coming days, our marvel would turn into concern and we would start on an unexpected journey.
After Alexandra came home with us from the hospital, she had trouble feeding and gaining weight and had raspy breathing, especially at night. After a variety of doctors’ visits, a month-long hospital stay, and a multitude of medical procedures, examinations, and labs (including a type of genetic test called a chromosomal microarray), just shy of 3 months old, Alexandra was diagnosed with 5p- syndrome.
We had never heard of this rare disease before and, during our diagnosis call, we were told that, given her diagnosis, we should be prepared that Alexandra would never walk, never talk and certainly never live as an independent adult. Refusing to passively stand by and watch this dire prognosis unravel as our daughter’s future, we launched into information-gathering mode – talking to many other 5p- parents, family members, and caregivers about the syndrome and ways to support 5p- individuals, reading countless articles and books about various therapy techniques, reviewing research papers and other references in an effort to learn more about 5p- syndrome and the underlying contributors to how the syndrome impacts an individual, and discussing potential research ideas with researchers across the country.
Three motivations came out of these discussions and reviews. First, we saw the need for additional research and scientific focus on 5p- syndrome, which would fill a profound gap in this area. Second, given recent scientific advancements and general increased awareness of rare disease research and treatment, we saw that there is no better time than the present to kickstart additional research on 5p- syndrome. And lastly, and most importantly, we saw the warmth, determination and welcoming nature of the 5p- community, who, despite the challenges they themselves face on a day-to-day basis, were always willing to provide support for 5p- individuals and practical advice for 5p- family members and caregivers.
Through these discussions and analysis, the inspiration and vision for 5p Minus Research Alliance (5pRA) was born. An organization looking to identify and navigate research opportunities related to 5p- syndrome that could result in momentum towards additional treatment options for 5p- individuals. An organization that could support the 5p- community from a research perspective, while partnering with other 5p- related organizations, the broader rare disease community and academic, research and commercial institutions to share ideas and insights on the path towards a better understanding of 5p- syndrome.
As we embark on these early days for 5pRA, we hold in our hearts a sense of hope, combined with grounding realism. The road for research on 5p- syndrome is long and winding, but we are excited for what the future may hold.
Best regards,
Jin Cao and Diana Cao-Shi
Co-Founders, 5p Minus Research Alliance