It is difficult to put into words the amount of gratitude that our little family has experienced over the last two months. From the moment, we received Taylor's rare genetic diagnosis of PURA Syndrome, we were treated with great care, love, and support. Taylor's medical staff rallied around us to discover as much as they could about PURA Syndrome and Taylor's primary care doctor took time out of her busy day to check in with me personally about the diagnosis and to see how I was doing.
Although Taylor's diagnosis was not a complete surprise, it took about a week to fully digest the news. For the most part, I had come to terms with the likelihood that Taylor's developmental delays were indicative of a greater problem and that our experiences moving forward would likely be unique; however, remaining undiagnosed made me hold on to a small bit of hope that she would one day outgrow her delays.....that she might blend in with her peers, attend school in a regular setting, run, jump, and talk. I still maintain hope for some of these things and do not want to limit her capabilities, but the reality is that her growth and development will be different.
Needless to say, there has been a bit of a grieving process with all of this. I've had to "let go" of some of the hope I had that she would 'catch up' up to her typically developing peers; but there is also some relief in having an answer. Knowledge is power, and the little that we know about PURA Syndrome has helped us tailor therapy and treatments for Taylor. A diagnosis allows us know what types of issues we may need to look out for in the future. We also have new community.....I was reluctant to join the community of the "undiagnosed," probably because of my unrelenting hope that Taylor would outgrow her delays. Unlike the undiagnosed community, I have thrown myself into my new PURA family.....a tight-knit group of about 200 families scattered all across the globe. I cling to the stories shared by these incredible parents and find their stories to be INSPIRING.
When I began to see the joys and struggles of this small little community, as well as the Rare Disease community as a whole, my mama-instincts really kicked in to gears. I wanted to DO something. But I had no idea what to do. My husband and I decided we would not hide Taylor's diagnosis and wanted to make sure that we communicated our recent news with the same positivity, optimism, and hope that we feel about Taylor and our future. This diagnosis doesn't change a thing in how we view Taylor. We love her. She is our daughter and she is a BRIGHT, BRIGHT light.....full of joy and little toddler giggles each and every day and we wanted people to know these things about her. I immediately began drafting letters to different sub-sets of our support network and included a fundraising link where people could donate to the PURA Syndrome Foundation on behalf of Team Taylor (https://purasyndrome.networkforgood.com/projects/45227-amanda-shanks-s-fundraiser). So much is yet to be learned about PURA Syndrome and I wanted to find a way to contribute to valuable and needed research of this rare condition. I set a goal of $5,000 and wasn't entirely certain that we would meet that goal. I am happy to report Team Taylor has raised over $17,000 for the Pura Syndrome Foundation, far surpassing my initial goal and expectations. This left me in awe and INSPIRED!
I've since created a Facebook page, @ToughLikeTaylor, to track Taylor's progress, as well as raise awareness for PURA Syndrome. I've also been filled with lots of words over the last few month and have found myself writing a lot. It's been cathartic for me but I also find a great deal of meaning in sharing Taylor's story with the world, so I started a blog (this isn't really in my comfort zone, but oh well, here we are). Taylor isn't talking (yet), but I believe she has a story to tell and lessons to teach us all. A good friend recently told me that I was meant to have Taylor.....I internally rolled my eyes as I thought she was going to say the cliche, yet well-meaning, line of "God only gives special children to special parents"....but she surprised me, she said, "Amanda, you have a voice. You've always had a voice and you're using it. You will fight for Taylor and you will help bring awareness and hopefully acceptance to people living with disabilities and other rare disorders." Woah. Well, thanks friend.....I'm trying.