Imagine answering the phone one afternoon and being told matter-of-factly by your child’s neurologist that she has Angelman Syndrome, a rare neurological disorder determined by a missing segment of the maternal 15th chromosome. We received that very phone call on July 30, 2009 when our daughter, Hayden Grace, was 16 months old. As soon as I got off the phone, I ran to the computer and Googled it – my heart sunk, my dreams shattered, my life which I thought I had planned, you know, the dog, the 2 children laughing and playing together in the backyard, the house with the picket fence, suddenly became a dark blur of unknown. I learned that Angelman Syndrome is characterized by lack of speech, seizure disorder, sleep disorder, lack of coordination and movement causing many angels the inability to ever walk, processing issues as well as global developmental delay. As devastating as the condition is, something in the brain allows these children to be unbelievably happy, smiling through the worst sickness, never meeting a stranger, and pulling people in with their gorgeous eyes (many of them have beautiful blue eyes, fair skin, and blonde hair to go along with their wide, gaping smiles) as if wanting to share with others they joyful way they see the world. True angels, as they are called, and rightly so, although I must admit, at 2am when our happy Hayden is awake and having a “party” in her room or choosing to squish all her food between her fingers rub it in her hair and throw it on the floor, a little devil comes out.
Life changed for our family in an instant, yet in that very instant, I discovered later, that it was only the beginning of a greater journey than I could ever imagine. I had always been a runner and especially in the months that preceded and directly followed that fateful July day, I turned to running for strength and solace. While out on runs, I would work though my thoughts, trying to understand why our daughter was plagued with this condition and what I could do about it. Team Miles for Smiles is the result of many miles pounding the pavement and trails, a way I could combine my passion for running, my educational background and experience, with my love of my daughter. Miles for Smiles is a fundraising training team created to help raise funds for the Foundation for Angelman Syndrome Therapeutics (F.A.S.T.), a not-for-profit whose sole purpose is to fund research leading to clinical trials of drugs that could serve as a therapeutic, and ultimately cure Angelman Syndrome (AS). Our Miles for Smiles team has successful raised over $80,000 and has almost 100 members throughout the
US and even as far reaching as thanks to social media and internet technology since our kick off January 2011. I serve as founder, head coach, and chief motivator, or cheerleader for these amazing people, many who completed their 1st 5K as a goal, to others who have raced marathons, mud runs, and even an Ironman distance triathlon. Australia
Since AS is such a rare disorder, all current research is privately funded. AS was cured in the mouse model by Dr. Edwin Weeber a mere 4 years ago, which is beyond exciting and hopeful for families whose lives have been changed as a result of one tiny missing segment of one little chromosome. In simpleton terms (or my interpretation), this one segment, or gene, produces one neurotransmitter in the brain, which ultimately affects the symptoms listed above. Since it can be broken down to that point, research can be very focused as to how to alter, replicate the missing neurotransmitter, or even attempt to “turn on” the paternal side of the same chromosome, which is perfectly healthy, merely dormant. Through our fundraising efforts as well as the efforts of others in the foundation, we were able to raise enough funds to initiate a human clinical trial of an FDA approved drug that has shown to reverse many symptoms of the disorder in AS mice in Dr. Weeber’s lab down at the
. While my daughter did not get accepted into this phase of the clinical trial which began in March of 2012, we are not only hopeful for the results, which should be published the beginning of next year, we are encouraged that Dr. Weeber has additional compounds he continues to test on the AS mice and hopes to bring to trial soon after this phase is complete. Not only Weeber’s lab, but also groups at the University of North Carolina, Chapel Hill, and UC Davis are “turning on” the paternal gene in the AS mice. These mice “normalize” after the paternal gene begins producing and continues to produce the missing neurotransmitter, thus truly curing Angelman Syndrome. There is so much passionate energy in the AS world and hope that our children will not be cured in a distant dream, but in the next couple of years. University of South Florida
So, why run, why triathlon, when my current days and nights are already full raising two daughters, one with this severe neurologic disorder? I do it because I am determined, a fighter, and I hope through my goals and actions, I can not only raise money to fund the upcoming clinical trials, but I can inspire other parents who struggle daily, whether because they have a child with a similar condition as mine, or they have a life that has turned out differently then they once dreamed.
We moved back to both my husband, David, and my childhood hometown of
with our girls in December 2009. Soon after we joined our local running and triathlon clubs, looking forward to getting involved and giving back to the town which gave us so much. Dave and I were far from triathletes and the thought of swimming in a lake sent shivers up my spine. I struggled through panic attack upon panic attack each time I attempted to swim in Lake Peachtree, our local lake, remembering the water snakes I would see swimming around while fishing there as a little girl. I think I would have quit that sport completely had it not been for that little voice in my head that kept telling me to continue, feeling that my struggles were part of a bigger plan. I completed my first triathlon July 2010 in Peachtree City, Georgia Blue Ridge, GA, finishing 2nd in age group, 8th overall. The following month I came in 1st in age group at the Peachtree City Sprint Triathlon, then 1st Overall Female a few weeks later at the Calloway Gardens Triathlon in Pine Mountain, GA.
My own personal goal in 2011 was to raise money and complete my first ½ Ironman distance triathlon,
70.3. I began training in January 2011 and God began to test my strength almost immediately. Hayden suffered constant seizures for almost a month in January after battling a 4 week sinus infection. My husband, who is in the financial industry, went through several job changes as well during the year. When I entered the water for the Peachtree International Triathlon in May, my first international distance tri consisting of a 1500m swim, 25 mile bike and 6.2 mile run, it was almost a relief. Finally I was doing something that I realized I loved in the town that I called home. Our Miles for Smiles team was in charge of a water station on the run course of the triathlon. When I approached them, I was overwhelmed by the number of supporters we had there, sporting their bright blue Miles for Smiles shirts, all cheering and encouraging. I crossed the finish line and learned that I finished 2nd Overall Female, only 5 seconds behind the winner. In August, I raced the PTC Sprint tri again, again finishing in 2nd Overall, 10 sec out of 1st. It was such an honor to be part of the largest Sprint triathlon in the Southeast. Augusta
I finally raced in my personal goal race, Ironman Augusta 70.3 September 21, 2011. I spotted Dave sporting his Miles for Smiles shirt all along the run course, taking photos and even saw him holding Hayden’s hand while she was attempting to walk (Hayden, 3 ½ at the time of the race, took her first independent steps only a few weeks before, but was still quite wobbly). I crossed the finish line in 4 hours, 52 minutes, learning only later that I placed 2nd in my age group and was the 5th Overall (non-professional) Female. I earned a spot at the Ironman 70.3 World Championships in
September of 2012! Las Vegas
I look forward to the bike section of this racing journey with Hayden -working hard, peddling up and down the hills. Biking for me takes a lot of time. It is long, tedious, hard work, but fun and rewarding, esp. flying down the hills! I relate this to the time - hopefully soon - when we get to teach Hayden how to speak with words, how to read and write and play - just like her peers. It is not a question of "if" AS will be cured, but rather "when" it will happen for our children. That “when” is directly related to our efforts of encouraging others to set goals, personally and with fundraising, and cross as many finish lines as they can to help us fund clinical trials so we can all cross that ultimate finish line.
The final leg - the Run!!! How I love the run! Running is part of who I am and have always been - a talent God gave me that until now, I didn't fully understand the gift and its purpose. I can not wait to share the run with Hayden and watch her fly! I am sure once she starts running, she will never stop! Such an amazing story and life she will have to share with the world.
I am truly grateful for my family, my abilities, and for the life God has given me. This life is not easy by any means, but my “secret” is one that any Angel parent can relate to. I have learned how to dig deep, much deeper than I ever imagined I could and accomplish so much more while appreciating every little step of the way. While I thought crossing the finish line in September of 2011 was an end of a goal, I discovered that it was just the beginning. Since then, because of that little girl, our family ventured to Glenwood Springs, Colorado to run the "Mountain to Valley 10 miler" for the Foundation for Angelman Syndrome Therapeutics (F.A.S.T.) a race put on by another Angel mom, one who I have become life-long friends with. I had the opportunity to race with the best triathletes in the world at the Ironman 70.3 World Championships in Las Vegas, ran a Personal Record 5K of 17:10 at the Santa Hustle 5K in Chicago while attending F.A.S.T.'s 2012 Gala, and not only finished the Snickers Marathon March 2, 2013 in Albany, GA in 3 hours, 8 minutes, but earned $2000 for my angel and all angels by placing 2nd Overall Female.
Personal records and finish lines are wonderful to add to the race resume, but for me, that is not the real story. The real story begins with my journey of personal growth, trusting God that He has a larger plan for me and that my talents are to be used to not only glorify Him, but to bring awareness to Angelman Syndrome. Hopefully, I will have the strength to be a good mom, to fight for my children, to inspire others, and live each day in Hope that my precious baby girl will one day tell me she loves me with her own voice. That will be the most glorious reward and finish line.