What is WSS & History of the Tri
What is Wiedemann-Steiner Syndrome?
Wiedemann-Steiner syndrome is a rare genetic disorder resulting from mutations in the MLL (aka KMT2A) gene on the long arm of chromosome 11. The syndrome, originally described in 1989 through recognition of similar features, was not officially verified until 2012 through whole exome sequencing. There are currently about 1,500 people that have been diagnosed with WSS worldwide. WSS is often related to global developmental delays, sleeping difficulties, feeding and digestion complexities, atypical facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc. Those affected by WSS endure hours of physical, speech, behavioral, occupational, and music therapies and academic supports every week. In their first few years of life, WSS children experience far more medical procedures and surgeries than most of the population will experience in a lifetime.
What is the Wiedemann-Steiner Syndrome Foundation?
The Wiedemann-Steiner Syndrome (WSS) Foundation was founded in 2016 with a mission to provide education, foster community, and stimulate research to improve the lives of all those impacted by WSS. www.WSSFoundation.org Tax ID 81-1260031
How did the Tri come to be?
Our daughter Francesca (age 10) was diagnosed with Wiedemann-Steiner Syndrome (WSS) in March of 2014 at the age of 20 months. When she was diagnosed via whole exome sequencing, she was one of about 25 that had been diagnosed worldwide (now there are likely about 2,000 diagnosed). Upon diagnosis, we were given one research paper and were told there was not much information available and to return in a year. How the syndrome has affected Francesca is mainly through global developmental delays. Medically, she is on the mild side of the WSS spectrum, but has still been under anesthesia and been poked and prodded more times than we can count. Her schedule is packed with multiple therapy and intervention appointments each week, inclusive of occupational, speech, and music therapies, adaptive PE and resource services. Since Francesca’s diagnosis, we have taken it upon ourselves to learn as much as possible about WSS and have done so by finding a network of phenomenal WSS families worldwide and by keeping in close contact with the two leading WSS researchers in the world: Dr. Hans Bjornsson of John's Hopkins and Dr. Wendy Jones of Great Ormond Street Hospital in London. Meeting with the doctors and other families has taken us to cities across the US, Vancouver, and London. We have been truly fortunate that these doctors have been so gracious with their time and that all of the families have become extensions of our family.
In 2016, we founded The Wiedemann-Steiner Syndrome Foundation. I am the President and we have seven other board members across the country. In coming up with a fundraiser for the WSS Foundation, my husband and I immediately honed in on a kids triathlon. From 2010-2012, we had helped with organizing the David Kilmer Memorial Kids Triathlon, so we knew it was something we could do. We have such fond memories of that event. Thus, the inaugural Wiedemann-Steiner Syndrome Foundation Kids Triathlon was scheduled. Held in June of 2017 at Sutter Lawn Tennis Club and the surrounding streets of East Sac, the event had about 75 kids and 50 volunteers participate (photo at top of pages is from that first year). From there it has grown year after year and has raised more than $100,000 for the Foundation thus far.
Our family is eternally grateful for the support of our family, friends, community, and local businesses.
What will the money raised be applied towards?
Our donors dollars are hard at work. The Foundation awarded our first major grant in 2020 to Dr. Hans Bjornsson of the University of Iceland in the amount of $200,000. Dr. Bjornsson set out to develop a mouse model and prove whether or not Wiedemann-Steiner Syndrome is something that is malleable with treatment post-natally. Mice with WSS were developed and treated with tamoxifin (a drug commonly used for breast cancer). The mice showed markable improvements with WSS symptoms, including intellectual disability, ultimately proving WSS can be treated after birth. These results are not only HUGE for the Wiedemann-Steiner community, but something that could have a significant impact on similar rare genetic diseases. As Dr. Bjornsson’s continues to work with this mice, the Foundation has partnered with Rare-X to launch a new patient registry as well as design a research roadmap. The roadmap will include funding of the development of a natural history study using a platform where our patients can house their medical histories from across medical institutions, and completing cell line studies. The natural history study and cell lines are key components as we strive to gain a better understanding of WSS as a whole and as we move towards development of FDA approved treatment options. While research is a huge component of our efforts, especially financially, the Foundation is also continually working to support and educate those impacted by WSS. We do this through programs like onboarding newly diagnosed families in giving them direction on next steps to take and connecting them with resources, offering a Speaker’s Series featuring experts in areas of need for our families, and planning regional gatherings around the world, including its biennial international conference. These gatherings allow families an opportunity to be around those that “get it”, an experience un-paralleled by any other.
Why should you and your child participate in the WSS Foundation Kids Triathlon?
The WSS Foundation Kids Triathlon is a perfect mix of fun, exercise, and promotion of inclusiveness. Your child’s participation in the event and seeking out sponsorships recognizing their accomplishments on June 12th will not only be self-rewarding, but will provide a sense of community involvement while helping a tremendous cause.