Anniversaries are typically a date in which we celebrate achievements, important, happy milestones-yet often anniversaries can also mark pivotal times in our lives that remind us of difficult moments or experiences. As we approach the 1 year anniversary of Jace’s diagnosis-it’s hard not to reflect upon that day and the incredible journey it has taken us on.
I remember the day that I received the phone call so vividly. It was November 17, 2011. I had just wrapped up a work meeting and was sitting down in a restaurant for dinner. It was around 7pm when my cell phone rang a number that I didn’t recognize. I typically ignore those kinds of calls, but for some reason, I knew that I had to take this particular one. I remember the first questions that the woman on the other end asked with such seriousness, “is this a good time?” and “are you with your husband?” Intuitively, I knew right away something was wrong, and my heart sank. I desperately wanted to say “NO, it’s actually not a good time and please don’t ever call me again-delete my number-how dare you call me!” but after 14 harrowing months of worry that we were missing something really important after negative test after test after test….I knew that it was finally time for answers. That’s when we heard those unexpected words, “Mrs. Pinders, I’m so sorry, you were right, your son has Angelman Syndrome”.
Our worlds crashed in those very moments. The flood and range of emotions directly following are surreal. We were stripped down in the rawest ways imaginable and forced to deal with pain that as a parent you never anticipate feeling. You hear about it, you read about it, but you never think it will ever happen to you! How could this be? We have a healthy older son at home-my husband and I were healthy, all the tests said so! Why him? I mean we never even knew such a rare neurological condition existed- let alone that it could so rudely intrude upon our lives in the way in which it just did. Despite the fact that a few days earlier my motherly instincts told me (after hours of extensive and exhausting research) that particular signs were pointing to AS, nothing could’ve ever prepared me for that very moment. Only another parent of a child with AS could ever fully begin to scratch the surface of what those first few hours/days/weeks after receiving the diagnosis are like. It’s soul crushing! The battle wounds from that day will leave everlasting scars-scars that will always represent our journey, but scars none the less that do possess the ability to heal (slowly of course).
The next morning my husband and I met with genetics to learn more about this mystery Angelman Syndrome. We had so many questions. Jace was only 14 months old at the time so our dreams for him were only just beginning too. He and his brother had a lifetime of memories yet to create-building forts, playing sports, staying up late at night talking about girls (or how much they love their mother), going to college together etc. I wasn’t willing to abandon those dreams , in fact I never will! I’d accept to alter them when needed, but I’d be damned if I would allow anyone else to shape them for him. Initially, you’re told “your child is happy, beautiful, and perfect in so many ways-but he’s not entirely healthy”. Hmm, ok, what the (insert choice words) does that mean exactly? In the foggy few weeks ahead, we knew that we had to get to work to build a team of medical professionals that were not only experts in the field of AS but whom also believed in Jace the same ways that we did-embraced all of his strengths & capabilities (not disabilities).
It wasn’t until we arrived in Boston a month after his diagnosis that we started to find some peace and acceptance that AS was NOT going to define Jace, and that his limitations were only going to be the ones that we (or other people) would imagine or unintentionally set on him. The words that we so desperately wanted to hear as parents “everything is going to be OK, he’s going to overcome this, and you can wake up from this nightmare now” were communicated in other ways that started to provide some solace and comfort. Jace was indeed his own individual-as all children are-but there was no crystal ball that could tell us what to expect and when to expect it-with either of our boys actually-so we would learn to support him every step of the way as he works harder to achieve the things that many often take for granted. We accepted that there would be hurdles and challenges and that it wasn’t always going to be an easy road- for any of us-but unlike the many other families who have bravely paved the way before us, something new was happening- the tides were changing and we weren’t painted a gloomy picture. We weren’t told from the medical community about all of the things that he potentially wasn’t going to be able to do. They are proven wrong here everyday anyway!
Instead, we were told that we were on the brink of new and exciting AS research that was currently undergoing a medical landscape shift in opinions, expectations, and possibilities. Now was not the time to let sorrow consume us-it was time to be hopeful and remain positive. When it felt like the odds were against us at times (because we were told his AS was just the result of “random bad luck”, awesome-thanks!), the science was proving to be on our side! YES, we had the strongest and best ally! From day one, I have hung on to every word of encouragement that has been passed our way, but nothing was more powerful than the words in my son’s recent Neuropsychological Assessment on June 1, 2012 from Mass General Hospital in Boston, Massachusetts –
“Although there are delays in communication, cognitive and motor skills, the course of his developmental trajectory is not yet known, particularly given new treatments for Angelman Syndrome are being developed at this time…”
It’s these words that continue to fuel our fire-keep us moving forward and placing one foot in front of the other during the difficult days that can still surface. A treatment is inevitable-a treatment is coming-it was right there in that report! Nothing could ever take that away from me- it was the confirmation that I needed to validate my most sacred inner hopes and beliefs were not just some desperate mother’s pipe dream!
Jace is now 24 months old and doing extremely well. He continues to remain seizure free -thanks in large part to diet therapy, and yes, thankfully he’s also a very good sleeper (neither of which that I take for granted-trust me). He receives weekly PT, OT, and Speech therapies, but his most important and beneficial therapies come from just being a little boy exploring his surroundings and playing with his big brother at home or with his friends at childcare. He is in a “typical” childcare and beginning to transition into the 2’s room. Jace participates in circle time-sits and listens to stories, plays on the playground, and is very much involved and engaged in all of the activities that his peers participate in. It may look a little different at times, but that’s OK. His smile is big but his heart is even bigger-and in essence he’s made ours better too. Jace has taught us more about life in his 2 short years then we could’ve ever imagined. Lessons learned and wisdom gained all of the time. Just yesterday I had a very profound moment. It was a typical Wednesday, a day that I work from home so I can accommodate home therapies, but I had also decided to sign him up for his very first therapeutic swim lessons. Traditional therapies certainly provide important tools, but isn’t always necessarily “fun”, and quite honestly, I was craving a little additional normalcy to his weekly routine too. Little did I know, but those 45 minutes were also going to be incredibly therapeutic for me. As I watched Jace swimming with his instructor-he was “free”, happy and proud of himself. It was the same sense of accomplishment that we had recently experienced when his older brother scored his first goal in his soccer game the weekend prior. Being an athlete my entire life, I honestly worried from time to time if we would experience those same kinds of moments with Jace -but he quickly diminished those fears. I cheered him on as if he was competing in the Olympics, a little much for swim lessons I know (and I’m sure the other people that were present thought I was bit crazy), but I was so incredibly proud. It renewed my belief that maybe someday I very well could be cheering on my own little Olympian, but regardless if he’s the next Michael Phelps or not…..most importantly, he’s my hero-my inspiration! He proved once again that he IS going to find his own way and that he IS going to discover his own highlights/achievements that will be unique and special to him! He just needs to be given all of the same opportunities. How lucky we are as parents to be able to revel in these moments- big or small!
While our journey is still evolving- I am so incredibly thankful to FAST, and all of the wonderful researchers and AS experts working collaboratively to identify treatments that will significantly improve my son’s life and the lives of so many others-until we have that eventual cure. I still often ask myself “why us?”, and while I don’t have all of those answers or honestly expect to any time soon- I just hope that I’m able to help make a difference along the way. I wonder sometimes if we were put on this journey because of my prior experience in nonprofit as a fundraising professional. Yep, that’s right… I’ve worked in Development for various national organizations for many years, I have seen the amazing progress that happens when research is funded and invested in wisely, and just when I thought I was burned out and ready to retire my fundraising hat, we received Jace’s diagnosis. At first, it almost didn’t seem fair-hadn’t I worked hard enough raising money for “other people”, “other important causes” to deserve some sort of pass from now being on the flip side of all this? I had made my contributions-paid my dues! But now it was personal-oh so personal! Those experiences were merely stepping stones. It was time to put the gloves back on and continue to fight the good fight! This time, however, fighting for research that will directly benefit my own child! How ironic! There was no question that FAST stood for everything that I believed in and wanted to support. I knew that this organization was committed to fighting for our children and spending every cent (100% to be exact) that they receive in the most efficient and productive ways that would produce life changing outcomes. I was blown away to discover that the very first potential treatment for AS was funded by FAST and a community that worked hard to personally raise the funds needed to start the current clinical trial that is under way. I’ve seen and heard a lot of inspiring stories throughout my career, but this will always be truly amazing to me. Here’s a community and organization (founded and run by parents with children with AS) whose passion and determination is actually changing the way medical research is being funded. How could I not get involved!
I signed up to assist FAST as a volunteer Development Coordinator. We all know that fundraising is a difficult task, and I’ve certainly been a little slow getting out of the gate myself because I’ve had to take my own time to learn how to recover after experiencing one of life’s most random blows, but I genuinely believe that we will change lives together and I am committed to doing whatever it’s going to take to help cross that finish line! We’ve come so far, but there’s still work to be done and funds to be raised to put that science to work for us now. I look forward to working with all of you, and this invaluable opportunity to impact the lives of our loved one with AS. I am confident that my experience with FAST will prove to be my most important and rewarding role yet-other than being a mom to two beautiful little boys of course.