BENEFITING: Cornelia de Lange Syndrome Foundation, Inc.
ORGANIZER: Cornelia de Lange Syndrome Foundation, Inc.
EVENT DATE: Mar 15, 2015
This year I am running the New York City Half Marathon as well as the New York City Marathon to raise money and awareness for a very special cause.
On September 1, 2014 my life had been changed forever in the most amazing way it could have been changed: I became Luca’s mommy. On that night my little angel was born weighing in a 1200 grams (around 2.5 pounds) and 15 inches long. He was a tiny little fella but we were expecting that because of the placental issues I was having. Although I hadn’t met him until the next morning because the NICU team swept him away I got to see pictures taken by my husband and fell in love instantly!
Danny and I didn’t know it at the time but that next day would be the beginning of a journey neither of us ever expected to be on. The NICU attending came over to update me on what they had been doing for Luca and what the plan for the day was. This included having a geneticist come evaluate him. I instantly became angry and told her I had an amnio and it said I had a genetically normal male and she responded that he had a different look to him and all I could think was he is so tiny of course he looks different.
The geneticist gave us 3 working diagnoses and told us not to go googling everything. I didn’t for a while. We were overwhelmed with so much stress and fear and sadness that our lives might not be what we envisioned our family to be.
After a couple of weeks I began to google. All of this had been eating at me and I couldn’t take it. I knew something was up when I looked at Luca’s hand a saw a palmar crease. I knew there was a genetic abnormality I just didn’t know what.
And then I googled Cornelia de Lange Syndrome which was one of the diagnoses. I read about it and couldn’t help but think I really hope this isn’t what he has. Then I looked at the images and I saw the pictures with the similar facial features. Here we thought his amazingly long curly eyelashes and perfect eyebrows were from us but little did we know they are characteristic of this rare syndrome. I told Danny I knew it in my heart this was what Luca had and we called the geneticist back to meet with us.
At this point Luca was 1 month old and in the NICU growing. He was drinking from a bottle and gaining weight slowly but surely. His daily gains were exciting for everyone including the amazing nursing staff who had been with us the whole way supporting us along our journey. Luca had a skeletal survey and the geneticist Dr. Cohen said she would come speak with us after she had the results of the X-rays.
When she walked over to see us a few days later and asked us if we wanted to go to a private area to speak and she had good and bad news I knew what was coming. I thought having her initially called was numbing but I had no idea what I was going to feel like a few minutes into that conversation.
The good news was Luca had all of his bones and had no fusion at his joints and she said the bad news was his x-rays and clinical characteristics were consistent with Cornelia de Lange and at this point she was comfortable enough to make a diagnosis. Numb doesn’t even begin to explain what I felt that day. Although I already knew what it was the confirmation made it real and all I could think was will everyone still accept him and love him even though he is different? No mother wants anything to be wrong with her child let alone finding out about a rare genetic syndrome.
If I knew then what I know now 5 months later I would’ve told myself its all going to be ok. Everyone will live him no matter what because he is Luca. Luca is one of the happiest babies with an infectious smile and laugh that melts our hearts everyday! He instantaneously captures the attention of anyone who is in his presence. I would’ve told myself he is not a diagnosis he is just a little baby. He’s your baby and that’s all that matters!
All of this is what leads me to writing this page about my story. The Cornelia de Lange Syndrome Foundation has helped to make a huge difference in our journey with Luca. We contacted the foundation and they sent us information about the syndrome and offered to get us in contact with other families. I didn’t realize the positive effect this would have on us. I had begun to have comfort in knowing there were other families out there who were experiencing the same thing. The online support groups have been a great way of bouncing things off other parents who may have experienced what you are experiencing and have some ideas to help along the way.
This foundation is really dedicated to the families of the individuals with this syndrome and for that I will be forever grateful. They provide support, helping families to get to a diagnosis, give up to date information about research, have gatherings to meet other families, conferences and have information about clinics that are geared specifically to CDLS. The foundation has been a huge stepping stone for my family. Running The NYC half and full marathon is my way of giving back to a foundation that has helped me in such a positive way. Your generosity can help to impact a family like mine.
If you know anyone else who would like to help please pass the link along!
Thank you for helping me give back!