Hey friends! Hope you are doing well and having a great week! Today I am sharing about the fundraiser I have hosted for the last 8 years for the CdLS foundation. For those that don’t know, my son Riley was born with Cornelia de Lange Syndrome which is a very rare syndrome. I will never forget the day he was diagnosed. He was 17 months old. It was not a good day and one I will never forget. I was with my uncle as Karl had to travel for work and the only day the Developmental pediatrician (DP) could see us is when he was traveling. If you ever have to see a Developmental Pediatrician (and I hope you never will) they are hard to get into so you take whatever appointment you can get. Karl was not happy about not being there but I assured him, Unc and I have this, I am sure it is nothing, and we will call you when the appointment is over. Unc and I have a blast anywhere we go and this was just another outing with our sweet Riley to see a doctor. Now, we knew something was up as he was not hitting milestones like other kids his age were, but we were going to do whatever we needed to find out.
The DP greeted us and we went into her office. She took one look at Riley and said she may be getting ahead of herself because we had 2 more appointments after this consult, but I think he has Cornelia de Lange syndrome. My Uncle and I looked at each other confused and asked, “What is that?” She took a book from her bookshelf, opened up to a picture of a child with CdLS and said this is the syndrome. We were in disbelief. The child in the book looked JUST LIKE RILEY. We asked many questions and she assured us she was still going to go through all her testing and give a final diagnosis at the 3rd meeting but it was also a good idea to see a geneticist as a back up. Remember how I said Unc and I have a blast wherever we go? That ride home was pretty quiet. We barely talked, we didn’t laugh. We were both in shock. We called Karl and told him what we found out. I felt so bad for him as he was traveling but I had to tell him. I got home and starting Googling the syndrome. You don’t want to know what first came up as it horrified me and I started balling. After I pulled myself together I came across the CdLS Foundations website. I read every single page to get as much information as possible. I called them the next day and talked to Lynn, one of the family service coordinators who instantly put me at ease. She gave me a lot of information. I told her I had already scheduled a geneticist appointment and would be in touch. After scheduling the geneticist appointment I was sent a ton of paperwork before we could even be seen. I filled it out and sent it in. Several weeks later we went to that appointment. I will never forget that appointment either. The geneticist asked Karl and I if we had any idea as to what Riley has. Since we had already been researching anything we could find, we were pretty sure she was going to confirm CdLS. But I had hope and I said: “There is a 1% chance in my heart you are going to say it’s something else, but I am 99% sure it is CdLS”…. And she confirmed “Yes, Riley has Cornelia de Lange Syndrome. After several questions, tears, prognosis, tears, protocols, and more tears, Karl and I drove home in silence. WTH? Why us? What did I do? What did we do? Total denial. At that point even though we had already done a lot of research we were still in shock. It was nothing we had done. CdLS is a genetic mutation. It can happen to anyone, it does not discriminate. Riley having CdLS was nothing we did. A few days went by, I got over myself, and I called the foundation back. Lynn answered the phone again. I cried on the phone with her… I pleaded with her to please help us. What do we do? From that moment on, I knew we were going to be ok, Riley was going to be ok, it was ALL going to be OK. Lynn put me at ease giving me all the important protocols as to what I needed to do to get Riley into the right doctors and to unite me with other families in the area.
Friends, this is why I have hosted the Brew & BBQ for CdLS the last 8 years. We wanted to give back to them as a Thank you for all they have done for our family. The Foundation is amazing. They help so many families by educating them and uniting them with other families touched by this little know syndrome. I sat on the board of directors for 6 years and am currently a Regional Awareness Volunteer Coordinator for the state of GA. With permission, here are several pictures of CdLS kiddos from all over the world. These families have all been touched by the CdLS Foundation and with your donation they can continue to help other families just like they have helped us.
This Saturday I am hosting the 9th annual Brew & BBQ for CdLS at Currahee Brewing, catered by Smokejack BBQ in downtown Alpharetta. Our silent auction is always a favorite with several items to bid on. This year you can bid on concert tickets to Justin Timberlake, Carrie Underwood, PINK, and Mumford and Sons as well as a weekend at the Westin Perimeter plus many more! Karl and I would love to see you there! Click here to purchase tickets or make a donation Brew & BBQ via Eventbrite. For more information on CdLS visit CdLS Foundation.
On behalf of the CdLS Foundation and the families we serve, We appreciate your support. For more information on Riley’s journey you can visit this blog post Riley