We would love for you to join us for the Nicholas Lagravinese Memorial Walk at Tobay Beach on October 22, 2022. The walk begins at 9:30am but please come early. Nicholas loved Tobay and spent so many summer days and nights there playing in the sand at the ocean, hanging on the boat, swimming in the bay, and of course splashing around at the splash park. So we feel that there is no location more perfect to host a walk in memory of our Nicholas.
There is no registration fee to participate, but donations or sponsorships are encouraged to benefit The Wiedemann-Steiner Syndrome Foundation. Participants can also raise money by creating their own individual or team fundraisers. You can do so by clicking "Become a Fundraiser" under the "Donate" drop down above. After you set up an individual or team fundraiser, you can then send the links directly to friends and family (or share on social media), asking them to join the walk or support your fundraising efforts. They just have to choose your name/team when they make a donation so that it goes towards your goal.
When registering for the Walk, you can indicate tee-shirt sizes for participants.
If you are unable to attend or participate in the event but would still like to make a donation in Nicholas's memory or become a sponsor of the Walk, there is a donate button at the top of the page.
The Wiedemann-Steiner Syndrome Foundation is a 501(c)(3) organization and all donations are tax deductible (Tax ID 81-1260031).
In August 2015, Nicholas was born with a rare genetic disease called Wiedemann-Steiner syndrome (WSS), although it wasn’t until later in our journey that we learned of this official diagnosis. WSS is a rare genetic disorder resulting from mutations in the MLL/KMT2A gene on the long arm of chromosome 11. To date, there are about 1,500 people that have been diagnosed with WSS worldwide.
When we left the hospital after Nicholas was born, doctors told us that Nicholas was a healthy baby boy. But it didn’t take us long to know that something wasn’t right. In his first weeks at home, Nicholas had difficulty feeding and lost weight at a rapid pace. He would eat for a few minutes and then "fall asleep." We soon learned though that he wasn't falling asleep, but rather he was aspirating liquids and his body would shut down while feeding to protect his lungs. During this time, he was also diagnosed with a ventricular septal defect (hole in his heart). Soon after, Nicholas was admitted for a few months, where he worked to gain some weight for open heart surgery, was under the care of countless specialists, and underwent a multitude of tests to understand the magnitude of his medical issues. His open heart surgery was the first of five surgeries he endured. We quickly learned and admired what a fighter our Nicholas was, battling for his life one day and surgery at a time.
At 19 months old, Nicholas was diagnosed with WSS. Although we now had a name for his symptoms, his geneticists and other doctors were not able to provide us with much insight into this rare disease. Most of them had never even heard of the syndrome. We immediately started doing our own research and found a group of parents with children who were also diagnosed with WSS. Some of these parents had set up The Wiedemann-Steiner Syndrome Foundation (“WSS Foundation”), whose mission is to provide education, foster community, and stimulate research to improve the lives of all those impacted by WSS.
From speaking to these parents, we learned that the WSS Foundation would be soon hosting a conference in Orlando. We contemplated attending but it was Nicholas's geneticist who really encouraged us to attend, believing that it could help the most since there was not a lot of information out there to help us help Nicholas. Attending this WSS Foundation conference was an eye-opening experience. Not only did we leave armed with information and resources to help Nicholas, but we instantly connected with so many families that understood exactly what we were experiencing. To this day, these families are still extensions of our family, and staying connected to the Foundation and doing what we can to help these WSS families is important to us, as we do not want any other family to ever have to experience the pain that we've been experiencing since Nicholas gained his angel wings.
It's no secret that Nicholas was dealt many challenges in his life that was cut far too short. But by the smile on his face, you would have never known it. He was the most caring little boy, always loving on his family with the BEST hugs and shepherding everyone together to make sure that no one was left behind. His love, strength, courage, and strong-willed nature to overcome obstacles are just some of the reasons why he will always be our superhero.
Nicholas taught us more in three and a half years than we could have ever taught him. Just to name a handful of these lessons, he taught us how to find joy in the little things in life, how to be patient, how to grow and learn your own way and at your own pace, how not to take a single thing for granted in this life (whether it be an ability or one's health), how to pause a busy day for a impromptu dance party, how to give and receive the best hugs, and how unconditional love inspires you to persistently fight for those you love. Despite being born with a hole in his heart, Nicholas was all heart; and we live on, working to make him proud and keeping his memory alive.
What Will the Money Raised be Applied Towards?
The WSS Foundation's donors dollars are hard at work. The Foundation awarded its 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. Dr. Bjornsson has a few months left to provide his final findings; however, preliminary observations are indicative that treatment may be possible. This potential result is not only HUGE for the WSS community, but something that could have a significant impact on similar rare genetic diseases. As Dr. Bjornsson’s current project comes to a close, the WSS Foundation is busy at work designing its research roadmap which includes funding continued research, development of a natural history study, creating a patient registry where WSS patients can house their medical histories from across medical institutions, and completing cell line studies. These pieces are key components as the WSS community strives to gain a better understanding of WSS as a whole and as the community moves towards development of FDA-approved treatment options. While research is a huge component of the WSS Foundation's efforts, especially financially, the WSS Foundation is also continually working to support and educate those impacted by WSS. The WSS Foundation does 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 WSS families, and planning regional gatherings around the world, including its biennial international conference. These gatherings allow families an opportunity to be around those who “get it,” an experience un-paralleled by any other. If you'd like to learn more, please visit www.WSSFoundation.org