We were told you may not walk, you may not talk, go to school, enjoy life, or live at home…
Let’s back up 5 weeks to early January 2004. Whole family is in town to see the 30 week ultrasound. First grand child, everyone is excited! It was Friday and we were all going to see the perinatologist. In case you don’t know a perinatologist is an advanced maternal age doctor aka: old lady doctor. I was 35 and it was a requirement. I loved him! Dr. Stone was the best! He actually was my AMA doctor for all my pregnancies. My parents, Unc, and Karl all went to this appointment. I remember not eating that morning as I was nervous and excited. I even remember what I was wearing that day. What should have been a routine ultrasound turned into a cluster. You see, I wasn’t measuring for 30 weeks. Riley was a bit small. They took measurements, vitals etc. and something wasn’t quite right. My blood pressure went through the roof and urine test was not good. What the hell is going on? I felt fine going into this appointment. I was eating good, exercising, teaching classes, working, and living my normal at that time. I was basically told ‘something’ was up. I was sent home with a large jug to pee in all weekend, lay low and come back on Monday and then be seen 3x/week until he was born. No work, and teaching group fit was out of the question! I was done, sidelined from everything. Not bed rest but home rest.
After driving down to Northside 3x a week, at 35 weeks, Riley was still measuring small and something was just not right. On a 2/4/05 just 3 days shy of my 36th birthday, they decided he needed to come out the next day. Karl and I were afraid, very afraid. Our first pregnancy, all these tests, ultrasounds, and peeing in jugs was scary. What were they looking for? Why me? Why us? I don’t think either of us slept that night. We arrived at Northside at 10 am on 2/5/04 to see Dr. Stone one more time before they took me up. While he was doing the ultrasound Riley’s heart rate dropped and they went into rush mode. He needs to come out ASAP! They rushed me upstairs to L&D and got me prepped. My first time ever getting an epidural, surgery, and being in an OR. At 12:42 pm Riley came out. I heard him cry (a very low cry) saw him for 15 seconds and they took him to the NICU. I did not see him until later that day. He remained in the NICU and could not be in my room. The next day we were visited by the neonatologist (NICU doctor). Something was up and they couldn’t put their finger on it. He was small (red flag), very hairy (red flag), wouldn’t eat well (red flag), with heavy eyebrows (red flag). We were told they would do some genetic testing. After 4 days I was released and went home without Riley. That literally sucked. For the first time in my life, I was depressed. All these other moms leaving with their babies accept me. Karl had off for a month (yes, he got a month off paid!) and we went down to visit him every single day. He could not go home until he drank bottles around the clock to get his weight up (another red flag – he just wouldn’t suck down a bottle like other newborns) The doctor decided to test him for Down syndrome. Few days later the test came back negative – normal male. They just couldn’t put their finger on it. I told the doctor that Riley and I looked very much a like at birth. Once I showed him this picture they pretty much threw there hands up and said OK and they couldn’t figure out the red flags. He was released 2 weeks later and we were told he was a preemie, take him home, love on him and he will grow out of it – EXACT WORDS! All these RED FLAGS – if we would have known then what we know now!
For the first year of his life, Karl and I just knew something was NOT right. He still wasn’t sucking down bottles like other babies, he ate baby food but gagged on the chunkier versions. Every doctor visit everything kept checking out just fine except for his weight and height. At one point they told us he was failure to thrive. Talk about a kick in the ass… Really? How can I force food down him when he just won’t eat it at every meal and then some??? I come from a big Italian family. We are food pushers! Meals were very frustrating. I remember trying to get yogurt and applesauce down him. He just wouldn’t do it. I would tear up as I fed him. What was going on? How could this be?
I joined a play group through Alpharetta Moms and met the greatest moms that are still my friends to this day! We met when our kids were 3-6 months old. It was hard NOT to compare. Why wasn’t Riley sitting up, crawling, babbling, and eating like the rest of the babies? Every time we went on a well check I voiced my concerns. Our pediatrician referred us to developmental pediatrician. We set that appointment but Riley was having ear issues and infections throughout his ‘baby’ years. So we were referred to an ENT to discuss tubes around the same time. If it weren’t for our ENT we would have waited a lot longer to get a diagnosis. He and I still joke to this day. He probably knew as soon as he saw Riley (knowing what we know now) about CdLS and basically told me, yes, he needs tubes but I am not operating until you have a diagnosis. Luckily we had the developmental pediatrician appointment scheduled a few days later.
I will never forget that day. It was a Tuesday in June. Karl was traveling and it was the only day I could get in. Developmental Pediatricians are not easy to get into so you take what you can get. I told Karl not to worry, Unc will come with me. So Unc, myself and Riley made that initial visit to get the process started. That Tuesday in June changed our lives forever. She took one look at Riley and said she could be getting head of herself, but she opened a textbook and turned to a page of child that literally could have been Riley with in 10 minutes of seeing him. Unc and I looked at each other in disbelief. We didn’t want to believe it. We were shocked. A syndrome so rare called Cornelia de Lange Syndrome, CdLS for short. What is this? How does it happen? Did Karl and I do something to cause it? OMG! WTH? What does this mean? We left that appointment very quiet, didn’t say much, just about in tears. We set up the other 2 appointments for evaluations and then a final consult. We called Karl – he started googling immediately. As soon as I got home, I looked it up. I was horrified, scared, balling, so many mixed emotions and literally just mad. Why? What did we do? Why us?! But, I found a glimmer of hope in my google search…. I came across the CdLS foundation. I scoured the website, read all the characteristics. Riley had ALL of them. I did call the foundation and was greeted by a wonderful person on the phone named Lynn. She was so wonderful! We decided to reconvene when our visits were up with the Developmental PED. As a secondary confirmation, we decided to also see a geneticist at CHOA where CdLS was also confirmed.
Once everything was confirmed we started our journey. How can we help Riley, what do we need to do? I called the foundation and got the ball rolling. I think Riley has seen more doctors in his 12 years than I have in 49! But we wanted to make sure he had every single protocol checked off and taken care of. If it wasn’t for the foundation we don’t know what we would have done. I cannot tell you how grateful we were to have found them! That following summer Karl and I went to the biannual family conference in Philly. What an amazing experience! We met so many families and kids just like Riley. It was so awesome to be around so many people with the same syndrome who just get it. When riley was 6 years old, I was asked to join the Board of Directors. I could not say YES fast enough and was so honored! My time on the board is coming to an end and it has been such a rewarding experience!
So just like that, 12 years has gone by and Riley is graduating from elementary school. Yea, I know it is ONLY elementary school but this is a huge milestone. I have had so many emotions this week walking down memory lane and sharing it on Facebook. Lake Windward will always have a special place in my heart. It is really hard to leave. Even though it wasn’t our home school I was very active in helping with their special needs program through the PTA so leaving is very hard! We are so stinking proud of this kid. He has come such a long way in 12 years! He walks, he talks a few words, is a wiz at his communication device, smart as a whip, knows how to swim, rides a balance bike and can build some mean Lego guys like it IS his business! Congratulations Riley we are so proud of you! This journey has been amazing! We love you!
We were told you may not walk, you may not talk, go to school, enjoy life, or live at home….. Well, you know what? So far, Riley has proved them ALL wrong!
Until next time…..
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