By Deanna McCurdy
I am frequently asked two questions: “Why do you run?” and secondly, “What’s your secret to doing what you do?” My running “career” began in high school when I ran track and cross country. I was given a scholarship to run cross country at the University of Evansville, a small division I school in southern Indiana. I was a mediocre relative to most Div. I intercollegiate runners, but stuck with it through my college career as a means to travel the Midwest on weekends, eat free food, and pay for books. After college, I thought of giving up running and being a “normal” 20-something, living in Cincinnati, Ohio at the time, staying out late on Friday nights, sleeping in Saturday mornings, but something kept nagging at me. Something kept telling me that God had given me a talent and I was supposed to use it. I didn’t fully understand this thought, but continued to run, trusting that a bigger picture would eventually be revealed to me.
I ran my first marathon, the Flying Pig in Cincinnati, in the spring of 2000, just weeks before moving back to the Atlanta area, placing in the top 10 overall females, but finishing injured and completely burnt out. Within months of relocating back to the South, I met my husband, David McCurdy, who was also from my hometown of Peachtree City, Georgia. He introduced me to mountain biking, hiking, camping, and all sorts of adventures that we experienced together. Through him, running, especially on trails, became fun. In 2005 we gave birth to our first daughter, Hailey. She is so much like the two of us, full of energy, creative, and a lover of sports. After her birth, we backed off competing in races, but continued to run for health and fitness. I coached a Girls On the Run group and would practice with the 8-10 year old girls while Hailey, age 2 and team mascot, would run around the fields as the girls trained. I began to think, maybe this is what God intended me to do with my running abilities. About the same time as I allowed that thought to develop, we found out we were pregnant with our second child.
In March of 2008, I gave birth to a sweet little girl, Hayden Grace. Little did I know this bundle of joy would change our world forever. Hayden stopped breathing at home when she was a week old. We were rushed to Scottish Rite Children’s Hospital and spent the next 10 days with eyes fixed upon her, watching her every breath, waiting for answers. We were sent home with a cart full of monitors and medications, and with the diagnosis of severe reflux with aspirations to the lungs. For the next four to six months, my husband and I slept in shifts every two hours. Poor Hayden rarely slept and was continuously plagued with sinus and ear infections as well as bouts of pneumonia. Through all of this though, she constantly smiled and rarely cried. I would drag myself out the door for a run, seeking solace and prayer time on the trails, often times crying out to God in anguish, wanting to know why he would make such a beautiful little child suffer so much. By the time Hayden was 9 months old, we began to notice that although Hayden could sit up by herself, she made no attempts to crawl, talk or explore the world around her. She would sit in the middle of a room for hours, perfectly content mouthing the toys around her, laughing and just being her happy little self. When Hayden was 16 months old, we finally got in to see a pediatric neurologist and learned that her happiness could be a symptom of her problem. Further testing confirmed Hayden had Angelman Syndrome (AS).
We moved back to Peachtree City, Georgia with our girls in December 2009, wanting to give our girls the type of childhood life that both my husband and I had. We joined our local running and triathlon clubs, looking forward to getting involved and giving back to the town that had given 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. I completed my first triathlon July 2010 in 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.
John Waller, a local Christian artist, wrote in his song “While I’m Waiting,” “I will run the race even while I wait.” For many months those words would ring in my head as I went out for a run. With three years of sleepless nights, the worry and struggles of raising my little Angel, I felt the need and calling to take those lyrics to heart. What has unfolded since then has been an amazing journey of hope, faith, and self discovery.
We kicked off Team Miles for Smiles, a charity running team, in January 2011. Over the past year, we have grown to over 70 members, many local, but others from as far away as New York, Texas, Colorado and even Australia – thanks to social networking and internet technology. We have raised over $70,000 for the Foundation for Angelman Syndrome Therapeutics (FAST).
My goal for Team Miles for Smiles is not only to continue to raise money to fund research, but also to encourage people to set a goal that they once thought impossible and help them reach it. I have been blessed to see parents of children with Angelman Syndrome cross the finish line full of smiles and tears themselves, friends and neighbors finish their first 5K, triathlon or marathon. I think I am almost as excited as they are when they achieve their goal. My own personal goal in 2011 was to complete my first ½ Ironman distance triathlon, Augusta 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 four 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 had finished 2nd Overall Female, only 5 seconds behind the winner. In August, I raced the PTC Sprint tri again, again finishing 2nd Overall, 10 sec out of 1st. It was such an honor to be part of the largest Sprint triathlon in the Southeast.
I finally raced in my personal goal race, Ironman Augusta 70.3 September 21, 2011. The race began at 7:30am, but because of how it was set up with over 3,500 participants, my swim wave didn’t begin until after 9am. As I watched the athletes before me begin their race, calm came over me. No longer was I anxious about swimming in the Savannah River, worried about the heat of the hot September day or if could even finish the race. Over 40 people had donated to my fundraising and I had surpassed my original goal of raising $3,000 by over $4,500 more. It was now time for me to do what I could do, to make them proud, to swim 1.2 miles, bike 56 miles and run 13.1, for my sweet little girl. I made it through the swim, and happily passed people all along the bike course, reflecting on how much fun it was to be touring the Eastern Georgia/South Carolina countryside. As soon as I began the run though, I discovered what so many of those tests God had been giving me were all about. Temperatures soared to above 90 degrees and the sun came beating down. I shuffled along, having no idea what my pace was, feeling my skin alternating between goose bumps and tickling numbness. I hunted down water and ice at each water station, ready to be done, but never thinking of quitting. I spotted my husband sporting his Miles for Smiles shirt all along the run course, taking photos and even once I saw him holding Hayden’s hand while she was attempting to walk (Hayden, 3 1/2 at the time of the race, had taken 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 Las Vegas September of 2012.
Hayden, like her fellow angel friends, works so hard every day to accomplish things that many take for granted. The sport of triathlon for me is similar to our journey with Hayden. I am not a swimmer, and have to work so hard to find my way in the water, trying to swim in a straight line. Some days my head is barely above water. Other days though, I begin to feel like I know what I am doing — then out of nowhere a wave hits me in the face when I am about to take a breath! Life can be incredibly tough, but the shore is just ahead and we will keep pushing forward until we get there.
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, especially 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.
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, but I hadn’t fully understood 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. We have learned how to dig deep, much deeper than we ever imagined we could and accomplish so much more while appreciating every little step of the way. These sweet, beautiful angel children truly are giving us all wings to fly.More reading – Miles for Smiles Website Heart of Gold – a beautiful article on Deanna in the Fayette Woman magazine
I want to thank all those parents who applied for enrollment in the minocycline clinical trial. The clinical trial began on schedule April 16, 2012. We are now at a point where half of the patients have received the drug for eight weeks and are beginning to be seen for their follow up appointments. As we pass this critical point of the clinical trial, an update
and some reflection is in order. Parents and patients have found their way to Tampa, Florida, and, with the help of Joe Grieco, have gone through the initial evaluation without any significant problems. As expected, we have seen little adverse effects of the minocycline and are as anxious as the rest of the community to evaluate the results and make these results public. If the study proceeds as proposed, it will end in the middle of March 2013. This may seem like an eternity, but it is actually an incredibly truncated timeline in comparison to other clinical trials for Angelman syndrome. The entire team here at the University of South Florida will work to culminate, analyze, statistically test, and report our findings as quickly as possible after the conclusion of the study.
Many parents, clinicians, and other investigators have asked, “What are the actions of minocycline and what do you think it is doing in the brain?” This is an exceedingly difficult question to answer for the very reason that its action beyond its use as an antibiotic is not well characterized. Of all the tetracycline antibiotics, minocycline is the most lipid soluble. This means minocycline has the ability to deeply penetrate the brain. However, its actions at a molecular level may take a considerable amount of time to determine. It is important here to note that there is a precedent for the use of drugs without a clear knowledge of their exact mode of action. For example, lithium is a common chemical that has been used to treat schizophrenia and other neuropsychiatric disorders for decades without knowledge of exactly how this simple molecule works in the brain. Only recently has research begun to unravel the possible molecular mechanisms for lithium.
This brings up the question of fast-tracking research to identify and bring to clinical trial therapeutics for Angelman Syndrome. This strategy was used to identify minocycline. We are currently trying to understand the molecular mechanisms of minocycline and our results will be published in time. It is important to know that any clinical trial, despite whether it involves an FDA-approved drug or an experimental compound, must undergo a rigorous and comprehensive review by the FDA, a scientific review committee, departmental review (an institutional requirement), and an institutional review board (IRB). The minocycline clinical trial has undergone review from all of the above-mentioned regulatory bodies as well as peer review by physician scientists outside of the University of South Florida. While there may be some controversy involved in deciding how much information should be known prior to conducting a clinical trial, you can rest assured the minocycline clinical trial has undergone significant review to ensure the highest safety level for the children involved. The mechanism of the drug and its use as a therapeutic are not mutually exclusive. We will continue to fast-track research for any potential therapeutic that will lead to possible treatment for Angelman Syndrome. I also want to thank everyone for their support and the support of the Foundation for Angelman Syndrome Therapeutics.
by Jason Bernstein
On March 18, 2012, the 27th edition of the LA Marathon was run through the City of Angels. Timothy Misiak, Mary Fasang, Chad Dunigan, and I raised over $1,000 for the Foundation for Angelman Syndrome Therapeutics (FAST). We weren’t the only people running for charity. American Idol winner, David Cook, would run the LA Marathon for Accelerated Brain Cancer Cure (ABC2). David sang the song “Time of My Life” written by Regie Hamm. Regie has a daughter with Angelman Syndrome.
I had wanted to back out on this trip several times due to lack of funding, lack of training,and a lack of motivation. I had taken on a new job with the Air Force, and had been extremely busy. The total cost for registration, lodging, airfare, airport parking, and meals would be around $900. Two days before my trip I received a deposit of $866 for money I had earned on a previous trip with my work. Exactly the amount I needed.
16 MAR 12 – I quickly typed up a press release titled “Battle of Los Angeles takes place one step at a time” and uploaded it to the internet, then packed my bags, and left the house. I drove out to Qwik Park and dropped off my car. They shuttled me over to Detroit Metropolitan Airport (DTW) to catch a plane with Frontier Airlines at 4:11 pm EST. I had never flown this airline, and was a little nervous. I kept thinking that maybe I shouldn’t have gone with the cheapest flight on Priceline. I checked in my bags and the lady handed me my boarding pass and politely told me to “head to gate 16F for Flight 666.” I think my heart stopped for a moment. I looked down to see it was Flight 626, not 666. I would end up having a layover in Denver before reaching my final destination at Los Angeles International Airport (LAX) at 7:42 pm PST. I took the Super Shuttle from LAX to my LA hotel. It wasn’t the nicest place I had ever stayed, but it was safer than the time that I slept in my car in downtown Detroit.
17 MAR 12 – Mary Fasang ran a St. Patrick’s Day 5k in Redondo Beach and received a Personal Record (PR).
She then came by and picked me up for breakfast. Afterward we picked Tim up and headed out to the LA Marathon Expo at Dodger Stadium to pick up bibs. We spent the day laughing, having lunch, and getting to know one another. Mary would be running in honor of her niece, Jade.
Tim would be running the race in honor of his cousin’s daughter, Kyla Hunter. I would be running the race in honor of James, a boy from LA. All three children are affected by Angelman Syndrome.
18 MAR 12 – Game day. Tim and his brother, Robert, came by at 5:15 am to pick me up. We went to Starbucks to continue the tradition we had started at the Detroit marathon. Mary rode the shuttle out of Santa Monica, and met up with us at Dodger Stadium. The weather turned out to be perfect. We had been warned that it would be raining heavily like the year before. The race would begin at the stadium and end at the sea at Santa Monica Pier 26.2 miles later. We would run through Beverly Hills, Hollywood, Chinatown, and other scenic areas.
MILE 3: Tim & I are approached by Steve Mackel; Sole Runners coach in LA. (Go to 3:25) http://www.youtube.com/watch?v=8VdJNffOREs – We give a shout out to FAST.
MILE 9: Janey, a friend of Mary, comes running up with three ice cold 20 oz. Dr. Peppers! These would help propel us 9 more miles.
MILE 11: I stop to pose by the Hollywood Star of Leonard Bernstein.
MILE 16:My left hammy starts to tighten up and I stop to stretch a couple times. Felt like I was about to “hit the wall,” which is when your body stops moving and you can’t
complete the race.
MILE 18: We made it to the Sole Runners aid station and Mary’s friends allowed us to load up on supplies. We ate salty, buttery potatoes, fruit, Pringles, pretzels, and loaded up on fluids.
MILE 23: We laughed all day, but the funniest part was at mile 23 when we saw the man who had sweat in the shape of Mickey Mouse. Mary was running behind him. It didn’t help that we were tired and hallucinating at this point.
MILE 26.2: We finish the race at the Santa Monica Pier. It was a wonderful day where we had the opportunity to raise funds for research and awareness of Angelman Syndrome.
19 MAR 12 – Met up with Mary at Manhattan Beach to discuss ideas for Phase IV “Running with Angels.”
20 MAR 12 – Made it home safely after surviving two bumpy/scary flights back. Completion of Phase III.
In 2008, the Foundation for Angelman Syndrome Therapeutics (FAST) was formed and invigorated the community with our fresh energy, our aggressive approach to Angelman Syndrome (AS) research, and our concise mission to bring practical treatment into current medical practice as quickly as possible.
In April 2012, FAST was thrilled to receive an anonymous donation of $250,000. The donor was drawn to the FAST organization for two reasons: our aggressive approach to AS research and our work within the Angelman community.
The anonymous donor was most impressed by FAST’s approach to exclusively funding research that will identify, or help to identify, safe and effective treatments that will address the symptoms of AS as quickly as possible, while continuing to aggressively pursue the path towards a cure. In addition to being drawn to the FAST Mission, the anonymous donor was very impressed by the community’s involvement in the Vivint Gives Back Project and the unity and solidarity shown during the Annual FAST Gala. The annual FAST Gala fundraiser unites the AS community in ways never seen before and solidifies us in our common goal, as was demonstrated by our monumental win of $250,000 in the Vivint Gives Back Project.
In January 2011, FAST funded research that identified a Food and DrugAdministration (FDA) approved compound that restored cognition and motor function in the AS mouse model. With the help of the Angelman community and the $250,000 won by the community for FAST in the Vivint Gives Back Project, FAST was able to take this finding from the laboratory to a human clinical trial within one year with Institutional Review Board (IRB) and FDA approval. FAST was able to do this quickly and with relatively little funding, demonstrating the organization’s ability to spend raised funds efficiently to produce results that will have the most impact on our children and their families.
The recent $250,000 donation will be combined with additional FAST funds to initiate the most aggressive, comprehensive and ambitious AS research project to date. The project will bring together an impressive group of leading AS experts to work collaboratively on identifying treatments and a cure. With experts in the fields of neurophysiology, pediatric neurology, genomic
therapeutics, learning and memory, synaptic plasticity, epigenetics, and genomic imprinting working together, the project’s novel approach will accelerate AS research in ways never imagined. This FAST-funded project is a five-year project that will expand in terms of scope and number of researchers over the next several years. The goal of this project is simple: to bring effective treatments into current medical practice and to cure AS as quickly as possible. Our goal at FAST is to raise $5 million to provide the funding needed to allow these scientists to hire additional researchers, purchase reagents and equipment, and move research forward faster than currently possible.
FAST is enormously grateful to this donor for assisting us in making this innovative, ambitious project a reality as this donation will allow these researchers to get started now. Look for more news about this exciting project in the coming months. If you or someone you know is interested in supporting this project and the work FAST does on behalf of our children, please contact FAST at info@CureAngelman.org.
The path to running a research group is a long one. Scientists are first trained in graduate school to obtain a doctorate degree in their chosen field. In the US this can typically take four to seven years. After graduation, scientists typically do an additional three to six years of training beyond their graduate work, called a “postdoc,” to expand their skills. Most often, the work conducted during the postdoctoral training time determines the work that scientist will focus on in their own research group. To be competitive for a position running a research group, the postdoctoral researcher must focus intensely on their project and produce publishable results. To help increase the number of talented and dedicated researchers focusing on Angelman Syndrome research in their careers, FAST is providing fellowship awards that will cover the salary and experimental costs associated with postdoctoral research. These fellowships also provide travel funds to allow the fellows to attend scientific meetings to present their work and learn about recent advances in the field. Researchers who obtain one of these fellowships can focus exclusively on their work and not spend time they could be using for research on writing grants to obtain funding. This will allow these researchers to get a jump on the competition and make them more competitive for research positions in the next few years.
In January of 2012, FAST awarded our third postdoctoral fellowship to Dr. Sarah Black at the University of Texas A&M. Our scientific advisory board was impressed with the potential of her project to identify therapeutic targets that regulate paternal UBE3a expression and unanimously recommended funding. Please help us welcome our newest Angelman Syndrome researcher!
Sarah G. Black, Ph.D.
Texas A&M University
Mentor: Dr. Scott Dindot
Title: Epigenetic repression of the paternal Ube3a allele in neurons
- Where did you do your graduate training and what did you work on? I received my PhD in genetics from Texas A&M University in 2010, under the mentorship of Tom Spencer. My thesis involved understanding the role of endogenous retroviruses in placental and fetal development. My project demonstrated that retroviral sequences are involved in the establishment of pregnancy.
- What interests you about research on Angelman Syndrome? I am intrigued by the many unanswered questions regarding the genetic and epigenetic regulation of the Ube3a gene in the brain. While there has been great progress made in Angelman Syndrome research, the mechanisms regulating genomic imprinting of Ube3a in the brain are still not understood. With this fellowship, I hope to better understand the factors involved in repressing the paternal Ube3a allele in the brain. Results from this fellowship may lead to the identification of those factors. They may then be explored as therapeutic targets.
- How will this funding help you to focus on your research? I am very grateful to be awarded this postdoctoral fellowship by FAST. The funding from this fellowship will allow me to focus on my research in AS, without having to concentrate on grant writing or other projects. As a member of a lab driven by a young, promising principal investigator that is dedicated to studying Ube3a and AS, I will use this money to pursue more ambitious projects related to understanding the mechanisms of imprinting of Ube3a and finding therapeutic targets.
- How will your funded project help FAST advance towards potential therapeutics for Angelman Syndrome? The mechanisms regulating genomic imprinting of Ube3a remain poorly understood. My project will utilize RNA interference technology to identify epigenetic modifiers or other factors that initiate and/or maintain repression of the paternal Ube3a allele in neurons. Results from this study will provide valuable insight into the fundamental mechanisms regulating genomic imprinting of Ube3a in the brain and may provide the foundation for therapeutic strategies aimed at reactivating the paternal UBE3A allele in AS patients.