Our March 2021 Referral Charity Winner

Rose Ryan

Rose is an avid supporter of the Jansen de Vries Syndrome Foundation and chose them to receive the $500 donation. This organization is near and dear to Rose’s heart because one of her grandchildren, Theo, was diagnosed with the syndrome. JdVS is a nonsense alteration that results in a shortened protein, which can cause a wide range of overlapping clinical symptoms. JdVS is a very new discovery, with it being discovered just seven months before Theo’s diagnosis. Rose’s daughter-in-law has been a considerable part of the foundation’s success and advocated to name the syndrome itself. She chose to name it after the researchers who originally discovered the mutation and have been putting much effort into researching the syndrome and therapies. Rose’s daughter-in-law and a group of parents have been putting in work to build a community of support, education, and understanding for this rare mutation through the JdVS Foundation.

Rose and her husband, Robert, met in high school and have been together ever since. They will be celebrating their 44th anniversary this September. Together they have three children, a daughter and two sons. Two of her three kids are married and have given Rose five beautiful grandchildren. Rose had a long career with the IRS starting in data entry and working her way up for the next 25 years. She went on to a position where she reviewed the continuing education materials and their accuracy for companies that facilitated recertification programs. Rose says that “the IRS is so not my personality.” Still, it was a great career path that allowed her to find her niche within the organization of educating those on how to correctly file their taxes and reprimanding those who would commit fraud. Now retired, Rose enjoys hobbies such as gardening, travel, and golfing. Before COVID, Rose got a job with American Airlines, allowing her to travel for free. Unfortunately, due to COVID, she left the position to protect her grandson, Theo. She recently reclaimed her job with American Airlines and she now looks forward to safely traveling the world once again.

Jansen de Vries Syndrome Foundation

Rose’s daughter-in-law and a group of parents have developed the JdVS Foundation into a community of support, education and advocacy for those touched by JdVS. They provide resources to both families and medical professionals and spread awareness of the mutation. Their continued work will help develop potential treatments and therapies to improve the lives of those living with this rare genetic condition.

To learn more or donate, visit: jansen-devries.org