Diagnosis day

Diagnosis Day
It was a regular doctors visit. After my mother saying that she would love to know how much he weighed more times than I could count, I made an appointment for my 4 month old son, Eli, to see a doctor for a regular check up while I was visiting home. We had returned home when Eli was 4 weeks old and were intending to stay for about 9 months, the length of my husband's parental leave from work. It was August and we were just coming out of the hottest month I can remember for St. John's. The visit to the doctor was normal. Eli was gaining weight, so the minor issues with feeding (sputtering every now and then while breastfeeding) weren't an issue in my mind. His head was smaller but nothing alarming. Again, not an issue for my doctor. When I mentioned to her that Eli had a really high pitched cry (we used to call him "The Banshee" and even wore earplugs sometimes while he cried as we changed his diaper! It was intense!), she said that she would refer us to an ENT to see if there was anything going on with his vocal cords. I remember leaving the office relieved. There had been a few things we had noticed and only talked about in passing to one another but put down to nothing more than "different kids develop differently". I talked to Chris about the referral and we went about our day. When we got home, the kids and Chris went for a nap and I got a snack and sat down to the computer to, of course, Google "high pitched cry". I wasn't expecting anything serious but the search results stopped me in my tracks and gave me a horrible sinking feeling. Cri du chat, Cri du chat, cri du chat. A rare genetic disorder that affects the short arm of 5th chromosome manifesting in a characteristic high pitched cat-like cry, small head, small chin, trouble swallowing, epicanthal folds in the eyes, developmental delays, heart defects, and, in 10% of cases, death. 
The words spilled into me and, even though I was in disbelief, they rang true so many times. What seemed like forever later, Chris got up from his nap and I shared with him what I had read. We both felt sure this was what Eli had but the clincher for us was looking at his little palm to see the single palmer crease -the single line that runs across the hands of those with syndromes like Downs Syndrome and Cri du Chat. It was then that we both knew in our hearts that we were dealing with something we had not expected.
The following weeks were filled with tears, talking about all of our fears, reading what little information was available about Cri du Chat, and attempting to navigate our way through our lives with this mind blowing diagnosis. We were able to get into see a pediatrician within a couple of weeks and quickly after that, a geneticist. When the results from the blood work came back positive for Cri du Chat, we were already moving into a place of acceptance and just wanted to get the ball rolling on therapies, knowing that physio, speech pathology and occupational therapy helped kids with CdC realize their full potential. We were on board and all in, committed to giving Eli what he needed to thrive. We decided to move our lives back to Newfoundland from Vancouver to have family support and Chris quickly started the process that ultimately ended with his work moving us home on compassionate grounds. 
Eli is now 20 months old and writing about that day I found out about CdC still gives me a pit in my stomach. We have come so far and Eli has been the one to help us get there. He is a funny, determined, stubborn, sweet little boy who loves his sister, his puppy, his food and is quick with a smile. The diagnosis took over our lives in the first few weeks of finding out but Eli showed us quickly that he isn't his diagnosis. He is a little boy like any other who just happens to have an extremely rare genetic condition. 
I am excited to continue to share our learnings on this path we have found ourselves on. I am meeting amazing individuals and my world view is certainly opening up and changing for the better. My goal is to shed light on the amazing qualities all people with exceptionalities have. There is no room for sympathy, sorrow or fear. Instead, this is a life of strength, happiness and determination. Join us in this journey and undertand that we are all shining stars who shine the brightest when we support and respect one another, no matter what condition or situation we may find ourselves in.
Love and light to all,