Raising Awareness

The internet is all a flurry with ALS Ice Bucket Challenge videos and I couldn't be more thrilled. Not only has this innovative campaign worked to raise awareness for this devastating neurodegenerative disease, but the donations are flooding in which will enable scientists to continue the much needed research to develop better treatments, methods of detection, and ultimately a cure for ALS. The campaign has moved me to learn more and to donate to this cause. If you have not had a chance to read up on the disease, here are a few links I suggest you check out:

The ALS Association www.alsa.org
ALS Therapy Development Network www.als.net

A large part of my life has been dedicated to raising awareness for a number of causes that are near and dear to my heart. Needless to say, raising awareness about Fragile X and it's associated disorders has become one of my life's missions. This past weekend, The Fragile X Resource Center of Missouri held our 8th Annual "Fragile, Not Broken Walk for Knowledge." After months of preparation and countless hours of volunteering by a small army, I am happy to say that our event was a smashing success! The purpose of the event is three-fold: to raise awareness about Fragile X and it's associated disorders, to raise funds so that our small, volunteer-run non-profit organization can continue to provide educational events and opportunities to local families affected by Fragile X Disorders, and to provide a fun-filled afternoon for our kids and families. 

Every year I am humbled by the outpouring of support by our family and friends. From those that braved the heat to walk with Team Jackson, to individuals that made donations to our team, I am truly grateful. The Fragile X Resource Center of Missouri has had such a positive impact in our lives and provides support to our family though social events, educational events, scholarships, and the camaraderie of a second "family" of amazing individuals that we would be truly lost without. 

Jackson was diagnosed with Fragile X Syndrome just before his second birthday. Before that time, we had never heard of it. Jackson had experienced developmental delays from an early age, missing many milestones as an infant and toddler. Being the anal-retentive control freak that I am, I was constantly referencing baby books and expressing concern when the developmental "window" for this milestone or that came and went with no sign of progress. Waiting patiently while many told us, "He's a boy. Boys just develop more slowly." In my gut I knew it was more than just that. Our pediatrician is amazing and from the time Jackson was about 6 months of age, she listened to our concerns and validated our feelings. She kept a close eye on Jackson, often bringing him back more frequently than recommended and urging us to get evaluations for various therapies and early intervention services around the time he turned one. While he didn't qualify for Missouri First Steps (our state's early intervention program) at his initial evaluation - he was not at least 50% delayed in multiple areas - we began private Occupational Therapy and Physical Therapy for him and payed out of pocket because we understood the importance of addressing these delays sooner rather than later. 


At age 14 months, Jackson was showing little to no signs of speech. He was barely babbling. We paid privately for an evaluation by a Speech Language Pathologist who strongly encouraged us to request a second evaluation by the people at Missouri First Steps as he should surely qualify now. After the second evaluation, he qualified for OT, PT, and Developmental Therapy in-home at no cost to us. By this time, our pediatrician had mentioned Autism Spectrum Disorder on more than one occasion and referred us to a neurologist for further evaluation. After a terrible experience with the first neurologist (that is a whole blog post in and of itself), our pediatrician strongly urged us to complete some genetic testing. 

On the evening of Monday, January 3, 2011, our pediatrician gave me the results of the genetic testing by phone… Jackson had Fragile X Syndrome. I had done some reading up on it as I knew what he was being tested for and wanted to prepare myself for the possible results. Nothing can prepare you for hearing that your precious child has a genetic condition - that you passed on to him - that affects the way his brain develops and functions. A condition for which there is no cure. A disability which affects his cognitive functioning resulting in a lifetime of struggles and potential hardships. A condition that not only has implications on how your child will navigate through this world, but has reproductive implications as well. Shanon and I were already in the process of trying to expand our family when we received this news. I hold the belief that everything happens for a reason and we received that phone call at precisely the time we were supposed to. In one fell swoop the hopes and dreams we had for our son AND our vision of a big, happy family were crushed - at least that is how I felt in the moment. For those reasons, and many more, Jackson's doctor and I sat on the phone crying with one another for what seemed like an eternity.

I'm not one to sit back and sulk. I'm more of a take-the-bull-by-the-horns kinda girl. Shanon and I immediately began researching Fragile X - careful not to give too much weight to any horror stories we may have come across on the internet. For us this diagnosis actually came as a bit of relief. We were relieved to know exactly what was causing our son's delays and we could move forward armed with that knowledge to give our son the best supports possible. Jackson hadn't changed. He was still our amazingly adorable blue-eyed devil with a wicked sense of humor and a smile that could melt your heart. We shared Jackson's diagnosis with everyone we knew and low and behold, our OT had another client with FX. She gave me her phone number and ultimately got us in touch with the Fragile X Resource Center of Missouri. If we were meant to be dealt this hand - and I believe wholeheartedly we were - we couldn't have landed in a better community. We have a large and active support network of families living with Fragile X Disorders here in the St. Louis area with first-hand knowledge of living the Fragile X way for more than 20 years. We are also just a few short hours from one of the worlds foremost experts on the treatment and management of symptoms related to Fragile X Syndrome, Dr. Elizabeth Berry-Kravis. 

When I think back over the last three and a half years since Jackson's diagnosis, I am filled with emotions. I have moved through the 5 stages of grief a few times over. I have accepted the mantle of advocate and activist and will continue to do all I can to raise awareness so that we may someday have more targeted treatments, more funding for research, a larger presence in the media, and so that my son is able to reach his full potential. 

I just wish I had thought of that damed ice bucket thing. 


      

Let's Do This!

Hey - that's me!

Hello world-wide inter webs! My name is Sara Jane and I have started this blog for many reasons. I have a lot knocking around in this noggin and could use as many creative outlets as possible to set my musings free. I love to craft, create, design, emote, advocate, organize, educate, collaborate, lead…you get the idea, right? Hence, Sara Jane of All Trades. So, this blog will likely be a bit of everything and may seem to be a bit scattered at times, but that is who I am. 

Our amazing son, Jackson             

I consider myself an amazingly lucky girl. I am married to the love of my life and we have the most amazing son who just so happens to have Fragile X Syndrome. Fragile what? I know, I had never heard of it until we received his diagnosis several years back. But over the years we have learned so much and met so many amazing people living "the Fragile X way" that we are well on our way to being experts and if you choose to follow this blog, you might just find yourself on that path as well. For now, if you would like to learn a bit more about Fragile X, feel free to visit the National Fragile X Foundation's website for tons of resources and information - www.fragilex.org.

My partner-in-crime for the last 10 years, Shanon 

My formal education is in Theatre and Education and I still have a deep passion for both. I have spent time professionally in sales, marketing, non-profit management, and working in homes and schools supporting children with special needs. I am currently a stay-at-home mom where my talents are poured into visual schedules, developing routines, coordinating with our son's education team, juggling the schedules of our busy family, and tackling mountains of dishes and laundry on a weekly basis. Glamorous, right?  

My two heroes :) 

I am eternally grateful to my wife for working her tail off so that I can spend this precious time with our son. Without her, and the support of a great network of family and friends, we would all likely be headed to the madhouse sooner rather than later. I am also thankful that most days I have just enough time left over to be creative in some way. So join me on this crazy journey, will you? I can't promise I will write with any regularity, but I'm hoping that when I do, there will be at least a little nugget of information, insight, or inspiration that you can connect with.