Since the day my precious minis were born nearly 3 years ago, I have called them my angels. While Q slowly morphed into nicknames of bug and punkin, E always stayed my angel. Perhaps, it was the very presence of the love she created in my heart and those around her that should have been my first indication that indeed the word angel would pertain to her in a way I could have never predicted.
On Monday of this week, we got word that E would finally have a diagnosis. As I sat in a meeting laughing and joking with 3 of my most favorite colleagues, my phone rang. I instantly recognized the number as Cedars Sinai Hospital, having spent the last 3 years answering and phoning doctors to discuss the minis’ conditions. I expected the call to be from E’s High Risk Pediatric Doctor confirming her appointment for Thursday, so when the genetic counselor identified herself and sounded as if there was news that would fall out of her mouth if I didn’t agree to talk to her just then, I shifted uncomfortably in my boardroom chair and tried to disappear as I told her now would be fine to speak.
Her voice was a combination of relief and nervous energy…this was not going to be good. It had been 13 days since we had done our bloodwork and results were in. Rather than call us in to deliver the news and have to sit on the results, she had called to tell me E has a genetic disorder called Angelman Syndrome. I could feel tingling all over my body as I tried to focus on what she was telling me. I thought we had pretty much discounted that, even though we were testing for it, the Geneticist had said he didn’t think she had it. We were only testing to rule it out…
I could feel my body temperature rising and my hands shaking as I tried to take notes about what she was telling me. In that moment, it was if she stepped behind a heavy steel door and was trying to ask me questions about if she could call anyone, if I needed anything, what time could I come in to meet with the doctors the next morning. My head cleared long enough to schedule the appointment at which point I looked up to feel the entire room in my moment. They were watching me. They all knew I was waiting and I could tell they too knew whatever I was hearing was not good. I looked into their caring eyes as I hung up the phone and started to cry. It was Angelman’s.
3 days later, I can’t seem to shake the fog that is following me and the sadness that fills every part of my body as I think about this new label. From an extreme high of E pulling herself up on the couch for the first time on Sunday when life and the future felt full of possibility because there were no boundaries or statistics on if she will talk, walk, live any sort of independent life to this feeling that my my heart is in pieces. I miss my bubble. I miss Holland. I had become quite happy in my Holland of unknown innocence with no labels, no statistics, no prognosis, only possibilities of whatever my imagination could create for her. Now, there are groups of people, studies, reference points. Yet, for E, today is exactly the same as 3 days ago when she pulled herself up for the first time. Her future is full of possibilities. Her innocence and spirit are in tact, it is mine that is slightly broken.
People always tell me E is the happiest baby they have ever met. Angelman’s is often referred to as “Happy Baby Syndrome.” It’s this happiness, now having a label, being attached to a “syndrome,” that rips at me the most, for it’s this happiness that gives me strength. The happiness is pure light and joy and I suppose for my little angel, this is just what she is, pure love and light. A true angel.
So our journey continues and we push onward and forward. As I cope with this new place, with trying to learn more without overwhelming my mind and heart with information I don’t really want to know, and trying to use the information to inform increased areas of focus and intervention, I ask for your positive thoughts and prayers. It has been a long time since I have truly used this safe place as a therapeutic outlet, but today, it is here that I can share and tell you about my little angel E, who when you see her smile you can only feel the presence of love that she brings, and today I hope some of her light and love will make today ‘anewfavoriteday.’
If you want to learn more about Angelman Syndrome here is a link: http://www.angelman.org/understanding-as/facts-about-angelman-syndrome/
Featured Image Source: http://dark.pozadia.org/wallpaper/White-Angel-Wings/