Day in and day out, there are people behind the scenes working their magic to give all of the super dupers a better tomorrow. This holiday season, we would like to thank all of the wonderful people who have taken time out of their busy lives during 2017 to fundraise, advocate, and raise awareness for the Dup15q Alliance. Each day, we will share the names of individuals and groups of people that we are all extremely grateful for.
*In our 31 days we highlighted well over 100 people that have contributed to making the lives of those with dup15q syndrome better! This list is by no means exhaustive and any omissions were not purposeful and we could only give summaries of people’s far reaching contributions. If you have supported the Dup15q Alliance over the years we’d love to hear your story, please email us at firstname.lastname@example.org.
Today, we would like to thank all of the families who participated in our #GivingTuesday campaign via Facebook on Tuesday, November 28th. With the simple update of a status and the click of a button, you all helped raise $9500 for the Dup15q Alliance! $10K will fund a Dup15 clinic for an entire year! Way to go, everyone!
Today, we give thanks to our Chromosome Q-usaders! Chromosome Q-usaders are Dup15q Alliance members who have gone above and beyond to raise funds and awareness about Dup15q Syndrome. All of these fundraisers directly support the Dup15q Alliance's mission of encouraging personal philanthropy that helps underwrite research, offer potential treatments, and provide support to all Dup15q Alliance families.
Thanks to ALL of you for fighting to give our children a better tomorrow!
Tom Doyle, Board Chair
Tom has selflessly served the Dup15q Alliance since 2009 in many capacities. Tom’s love for his granddaughter, Grace, has driven him to devote his time to lead our Board of Directors as our current Chairman. Throughout his terms, Tom has used his background in mentorship and management to support all of the families that the Dup15q Alliance serves as well as to drive the Alliance forward. We are truly thankful for the time and energy he dedicates to the organization.
Tessa Quinlan, Lifetime Chromosome Q-usader, Board Member, Conference Chair
Tessa serves the Dup15q Alliance in so many roles: mom, advocate, fundraiser, and organizer! Tessa is our first Chromosome Q-usader to be announced, an honor she has earned for her tireless efforts in hosting the GQ fundraiser in honor of her duper, Gavin Quinlan. Over the time Tessa has hosted this event, she has raised record breaking amounts of money that the Alliance has been able to use for treatments and research. Tessa joined the board so that she could help raise awareness about Dup15q Syndrome, and learn more about it herself! As if Tessa wasn’t busy enough, she also took on the role of Conference Chair for the 2017 conference and will be doing it again in Houston in 2019!
Vanessa Vogel-Farley, Executive Director
The Alliance families are so fortunate to have Vanessa as their Executive Director. Vanessa offers personal support to each and every family that comes through the Alliance, including families with prenatal diagnoses. Vanessa works tirelessly each day to build relationships with clinicians, researchers, and other groups that share Dup15q Syndrome related symptoms in order to offer the best systems of support to our families and build collaborative relationships. Vanessa is determined to find effective treatments for all of the children living with Dup15q Syndrome and has shown all of us how truly invested she is in our families.
Dr. Shafali Jeste, Professional Adivisory Board/ Dup15q Clinician In addition to being a dedicated member of our Professional Advisory Board, Dr. Jeste established the dup15q Clinic at UCLA and has a dedicated dup15q syndrome research program in her lab. Dr. Jeste has designed innovative studies in early predictors of autism to focus on the integration of biomarkers with the behavior to define atypical development prior to the onset of clinical symtoms of autism. She brings her amazing combination of research and clinical prowess to the Dup15q Alliance communtiy and we are thankful for her state of the art approach to dup15q syndrome.
James Borden, Chromosome Q-usader because of Running for a ReasonAn avid runner, James (aka Jimmy) decided to turn his passion in to a mission to support his duper, Andrew, who inspires Jimmy every day. Jimmy decided to take on the NYC Marathon (his first marathon!) on November and worked tirelessly to train for this grueling event. Jimmy ran 26.2 miles to raise awareness for the physical challenges his son Andrew (and all of those living with Dup15q Syndrome!) endure on a daily basis and to raise funds that will allow the Alliance to offer support to all of our families. Thank you, Jimmy—you are truly inspiring!
Lindsey Borden, Regional Representative
Lindsey is mom to duper Andrew (and the wife of our Q-usader Jimmy) and serves as a Regional Representative for the Dup15q Alliance. In this role, Lindsey will be your first point of contact for a family who joins the Alliance and has the daunting task of answering all of the questions we have after we leave the doctor! Lindsey is also in touch with the Alliance and helps to put together resources for families in her area and strives to continue to improve this process. Thanks for helping all of us through challenging times!
Adrienne Felterman, Dup15q Alliance accountant; Kendra Scott fundraiser A big "THANK YOU!" to Adrienne for volunteering her time to serve as the accountant for the Dup15q Alliance! Adrienne is mom to duper Charles, With all of these amazing fundraisers, we have been keeping Adrienne busy, but she does it with a smile :) Adrienne has also organized the Kendra Scott jewelry fundraiser which is happening this Friday! Click on the link to get your order in just in time for the holidays. Thank you, Adrienne, for organizing this fundraiser for our families!
Earlier this year, Cortney Manning reached out to the Believe Committee to seek assistance hosting a fundraiser in honor of daughter, Brielle. With much planning and tons of hard work, Cortney's "Believe in Brielle" event boasted over 35 baskets up for auction AND a vendor event in which vendors donated a percentage of their sales to the Alliance! Cortney, we know you work full time, go to school, and have a family, and we are amazed and thankful that you still found time to coordinate this amazing event!
Emmylou Allen - Regional rep Mom to duper Kelsey, Emmylou proudly serves her region! Emmylou ran the dupers under 5 group at the conference this year and was a wealth of information for all of the parents new to the Dup15q diagnosis.Emmylou's experience, knowledge, and compassion make her the perfect regional rep. Thank you for helping our families during difficult times.
Dr. Dimitrios Arkilo, Professional Advisory Board
Dr. Arkilo has served the Dup15q Alliance in many capacities. As a well-regarded clinician with a special interest in the neuropharmacology and genetics of epilepsy he ran the Dup15q Alliance Clinic in Minnesota for several years and has now transitioned to a role at Sage Therapeutics. He also plays an integral role in our Professional Advisory Board stemming from his extensive academic, clinical and industry experience in therapeutics development.
Heather Sheldon, Chromosome Q-usader, Miles for Myles
Heather has been working hard to raise funds for the Alliance from England! This year, Heather has coordinated 3 separate fundraisers: grocery bagging in a local market, which allowed for awareness and also brought in funds, a “Running for a Reason” event done by Heather’s friend Tracy called Miles for Myles, in which Tracy raised funds in honor of duper Myles, and a psychic fun night, where attendees paid for a session with a psychic and the proceeds were donated to the Alliance! We can’t wait to see what fun and exciting events Heather comes up with next. Thank you, Heather!
Dr. Scott Dindot, Professional Advisory Board
Dr. Scott Dindot brings expertise in animal models of disorders to our Professional Advisory Board. He is an Assistant Professor in the Department of Veterinary Pathobiology at Texas A&M University. Dr. Dindot lead the charge in the creation of the UBe3A over-expression mice to investigate the role of the UBe3A in dup15q syndrome. His current projects include: Elucidating the mechanisms regulating genomic imprinting of Ube3a in neurons, and examining the neurological function of the human UBE3A isoforms, We thank Dr. Dindot for his continued dedication to the Dup15q Alliance Professional Advisory Board.
Stefanie Lebailly, Chromosome Q-usader, Believe Walk France
The Dup15q Alliance said "Bonjour" to its first ever Believe Walk in France in 2017! A lot of time goes in to planning a Believe Walk and Stefanie was essentially an army of one. But never underestimate the power of a woman on a mission! Stefanie, you rocked the Believe Walk and we're sure you've started an international trend.
Krissa Harris, Chromosome Q-usader, Blue for Dup15q & t-shirt sale
Though Krissa tried to avoid Facebook all together, once joining, she realized how much of an impact social media can have on fundraising and awareness. With the help of her sister, Krissa was able to organize a "Blue for Dup15q" in her sister's school to raise money for the Alliance. Krissa was also determined to make a lasting impact with awareness and had "Hattie's Warriors" shirts designed for fundraising purposes. Krissa's efforts were a tremendous success and people all over the USA are proudly supporting Hattie and wearing blue for Dup15q!
Elyse Linderman, Administrator, Dup15q Alliance
The Alliance welcomed Elyse in the middle of 2017 and we couldn't be happier to have her on board! Elyse does all of the things you never even knew needed to get done...and then some! Elyse brings a wealth of knowledge to the non-profit world and is extremely passionate about making a difference for all of our dupers. We know that Elyse is going to help make 2018 amazing! Thanks for a great 2017!
Janine M. LaSalle, Ph.D, Professional Advisory Board
Dr. LaSalle is a professor of Microbiology and Immunology at the University of California, Davis. Dr. LaSalle’s research focuses on the epigenetics of neurodevelopmental disorders, including 15q11-q13 disorders. Her expertise in DNA methylation brings the investigation of gene and environmental interaction to the dup15q community. For her forward thinking and detailed work in dup15q syndrome, we are thankful!
Laura Stark, Chromosome Q-usader, Crawling for a Cure
Who says inviting a few friends out for a good time can't be financially rewarding? When Laura found out a local bar crawl was taking place, she seized the opportunity to get the Alliance included! Laura invited many (many!) friends and they all came out to crawl for a cure! Good friends + cold drinks = one successful event! Cheers, Laura--we appreciate your efforts!
Shout out to duper John Nation for naming the newest colt at Clydesdales Barn! John has been going to Clydesdales Barn for years and making amazing connections with the horses there. A contest that yielded 4000 votes from 12 countries ended with choosing the amazing name, Nation, in honor of the tremendous bond John has had with all of the animals during his time spent at Clydesdale. We love your big smile and your enthusiasm for life, John! And your mom...she keeps us laughing all the time Thank you, both, for your positive thoughts and stories that keep our members motivated!
Dr. Orrin Devinsky, Professional Advisory Board
After treating a few patients with Dup15q, Dr. Devinsky knew he wanted to be more involved with this organization. One of the areas in which Dr. Devinsky focuses much of his research on is epilepsy. Specifically, Dr. Devinsky is interested in cannabidoil, SUDEP, phenome-genome correlations, ataluren, healthful behavioral changes, autism, therapeutic electrical stimulation, quality-of-life, cognitive and behavioral issues, and surgical therapy. He is the Principal Investigator for the North American SUDEP Registry and for the SUDC Registry and Research Collaborative. He founded Finding A Cure for Epilepsy and Seizures (FACES) and co-founded the Epilepsy Therapy Project and epilepsy.com. As there is a high prevalence of epilepsy and seizures in those with Dup15q, Dr. Devinky's research is especially important and meaningful to all of us. We thank Dr. Devinsky for his fierce dedication to finding a cure for Epilepsy and seizures and believe that some day, we won't have to worry about them any more.
Lacey Berger, Chromosome Q-usader, Communities for a Cause
Lacey took eating out to a whole new level when she set out to do fundraisers on the 15th of each month with local restaurants. "Communities for a Cause" encourages diners to come out to the hosting restaurant and know that their meals have a meaning. A percentage of all meals purchased on the night of the event were donated directly to the Dup15q Alliance. Lacey has already lined up two restaurants and there are certainly more forthcoming! On 11/15, City Barbeque was the host and diners came in from 10AM - 10PM! This month's event will be held at Blaze Pizza on 12/15 from 5PM - 8PM and 20% of your bill will be donated to the Alliance! Lacey, thank you for encouraging your community to "dine for dollars"--we appreciate all of your hard work!
Stormy Chamberlain, Professional Advisory Board
We are extremely lucky to have Stormy Chamberlain, Ph.D.
Dr. Chamberlain as a member of our Professional Advisory Board. Dr. Chamberlain is currently an assistant professor in the University of Connecticut’s Genetics and Developmental Biology department, and is assistant director for UConn’s Graduate Program in Genetics and Developmental Biology. Dr. Chamberlain established her own lab at UConn in 2009, using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders focusing on Dup15q syndrome as well as other 15q11.2-13.1 related disorders (Angelman Syndrome, Prader-Willi Syndrome). She recognizes the importance of collaborative research and works with many other dup15q syndrome investigators in order to drive science forward.
Tiffany Ciero, Regional Rep/Conference basket auction coordinator
Tiffany serves as a regional rep for the Dup families and her sweet voice will offer you immediate comfort. The role of a regional rep is not an easy one, as you navigate the difficult questions new members have, but Tiffany approaches this role with such a positive outlook. Tiffany and her husband Justin took on the role of basket auction coordinators at the 2017 Family Conference. Spending several days in a closet organizing all of the donations was no easy task, but the Cieros pulled off an amazing and successful basket auction! Thank you Tiffany for all you do to support the Dup family!
Edwin H. Cook, Jr., MD - Professional Advisory Board
Dr. Cook is interested in the genetics of autism, attention-deficit hyperactivity disorder, obsessive-compulsive disorder, and the development of improved pharmacologic treatment of these disorders.
His laboratory is now working with collaborators on molecular genetic studies of autism, attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and pediatric- and early-onset bipolar mood disorder, as well as neurochemical and clinical pharmacological studies of autism.
Robert Swirsky, Regional Gathering Coordinator/Facebook fundraiser
Thanks to Robert, the Arizona area had its very first regional gathering! This was a wonderful opportunity for local dup families to come together and get to know each other! From the pictures posted, it looks like fun was had by all! Robert also organized a Facebook fundraiser and exceeded his goal! Way to go, Robert! Thank you for your hard work!
N. Carolyn Schanen, MD, PhD - Professional Advisory Board
Carolyn Schanen, MD, PhD is a physician scientist who was introduced to Dup15q syndrome during her fellowship training in Medical Genetics. Just after joining the faculty at UCLA in 1996, a child with idic15 was assigned to her clinic (by chance), which set into motion a 17 year long research and clinical career on Dup15 syndrome. Her earliest ventures could never have gotten off the ground without IDEAS (now the Alliance) and the commitment of the parents and families. As a clinical geneticist, her interests have focused on understanding how the duplications affect outcome for individuals with duplications. She has always been motivated by “her kids” and the goal of finding strategies through research or clinical approaches to reduce the impact that the syndrome has on the quality of their lives. Though she is not currently not actively involved in research or patient care, Dr. Schanen brings expertise in molecular and clinical genetics to the PAB.
Dr. Sarah Spence - Professional Advisory Board
Dr. Sarah Spence is a child neurologist with a PhD in neuropsychology. She is the assistant in neurology and co-director at the Austism Spectrum Center at Boston Children’s Hospital, and assistant professor of neurology at Harvard Medical School. At Boston Children’s Hospital, she has been instrumental in the creation of the Autism Spectrum Center, a multi-disciplinary center focused on improving the lives of children with ASD. She has been involved in many initiatives in the clinical care and research of individuals with Autism Spectrum Disorder and related developmental disabilities working with Cure Autism Now, Autism Speaks, the Simons Foundation, and the Nancy Lurie Marks foundation, the National Institutes of Health, the dup15q Alliance, and the Tuberous Sclerosis Alliance.
Dr. Ron Thibert, Professional Advisory Board
Ronald Thibert, DO, MsPH is a Pediatric Epileptologist with a interest in the treatment of epilepsy in children with autistic spectrum disorders. He is the director of the Angelman Syndrome Clinic and the Dup15q Center for MGHfC and the Lurie Center. Headed by Dr. Thibert, the Boston dup15q clinic was the first to open. It's a multidisciplinary clinic for children and adults with duplications of chromosome 15q. Dr. Thibert is extremely knowledgeable about Dup15q, and many dup families will travel near and far to meet with this exceptional doctor. Dr. Thibert is passionate about helping families and dupers better understand Dup15q Syndrome and offering specific and targeted treatments based on the individual child. We thank Dr. Thibert not only for his time and dedication, but also for making each patient feel like an MVP in Dr. Thibert's presence.
Dr. Lawrence T. Reiter, Ph.D., Professional Advisory Board
Dr. Lawerence Reiter has been an integral part of our Professional Advisory Board, an important area of his research is the in depth phenotypic and molecular analysis of individuals with interstitial duplication 15q autism. Since 2007 we have been collecting a variety of language, neuropsychiatric, neurological and gene expression data from subjects with interstitial 15q chromosomal duplications. We hope that our basic research into the functional targets of UBE3A will lead to a better understanding of the phenotypes in this particular autism population where the UBE3A gene is duplicated, and presumably expressed at higher levels than in unaffected individuals. Additionally, his expertise in models of Ube3a over expression in drosophila have lead to many important seizure related findings as well as a federally funded grant to test FDA approved compounds for anti-epileptic properties. And we cannot forget his alter-ego “Tooth-Fairy Larry” due to his work using dental pulp stem cells (DPSC) to investigate gene expression changes leading to autism and other neurogenetic syndromes is a new approach to understanding these syndromes using live patient derived neurons in culture in both Dup15q Syndrome and Angelman Syndrome. This study compliments his drosophila work, in that the purpose of this study is to identify currently approved medications that can potentially be repurposed for antiepileptics in both 15q Duplication syndrome (Dup15q) and inherited epilepsy. The outcome of this research could have broad therapeutic impact not only for pediatric disorders like 15q Duplication syndrome, but also for other inherited forms of epilepsy, which result from mutations in synaptic genes. Dr. Reiter, your work is incredible and we are all excited to see what it will bring to our world.
Dr. Jill Silverman, Researcher
The Dup15q Alliance is very thankful to be able to support cutting-edge researchers, and Dr. Jill Silverman is one of those amazing scientists. Her current expertise is in preclinical translational evaluation of pharmacological treatments for autism spectrum disorders. Dr. Silverman’s research project investigate phenotypes in Ube3a-oversxpressing genetic mouse models (dup15q), the complexities in interpretation of mouse behavioral data, additional pharmacological treatment reversals in mouse models of autism and the development of rodent cognitive behavioral assays using technology that is analogous to clinical assessment tools. Her collaborative research spirit serves the dup15q syndrome communities need for translational research in dynamic ways!
Thank you to ALL of our International Reps! It's wonderful to know that the
love and support of the Alliance is truly worldwide!
Derek & Tracy Boshard parents of Super Duper Erin - Regional Rep for South Africa
Belinda McDonald parent of Super Duper Harrison – Regional Rep for Australia - New South Wales & Queensland
Donna Cartwright parent of Super Duper Emmelline – Regional Rep for Australia - Northern Territory
Joanne Graetz parent of Super Duper Samuel – Regional Rep for - South Australia
Tammy Donohue parent of Super Duper Brandon & Zoe – Regional Rep for Tasmania
Anne Tiplady parent of Super Duper Evie – Regional Rep for Victoria
Alison Kalnicki parent of Super Duper Logan – Regional Rep for Canada British Columbia, Alberta, Saskatchewan, Yukon, Northwest Territories, Nunavut
Denis Myers parent of Super Duper Jordan – Regional Rep for Manitoba, Ontario, Quebec, Newfoundland and Labrador, New Brunswick, Prince Edward Island, Nova Scotia
Ursula Pail parent of Super Duper Lara – Regional Rep for Austria
Mieke Vanhove parent to Super Duper Nand – Regional Rep for Belgium
Kamilla Jakobsen parent to Super Duper Niklas – Regional Rep for Denmark
Pamela Taylor parent to Super Duper Olivia – Regional Rep for England
Helene Frisch parent to Super Duper Fanny – Regional Rep for France
Ute Wolf parent to Super Duper Matthias – Regional Rep for Germany
Antal de Waij parent to Super Duper Isabella – Regional Rep for Netherlands
Ragnhild Eikeland parent to Super Duper Tom – Regional Rep for Norway
Laura Piredda parent to Super Duper Greta – Regional Rep for Italy
Fedelma O'Farrell parent to Super Duper Ruth – Regional Rep for Ireland
Jedrzej Sliwka parent to Super Duper Franek- Regional Rep for Poland
Cecilia & Manuel Branco parents to Super Duoer Cristiana – Regional Reps for Portugal
Quino Renovell parent to Super Duper Lucas – Regional Rep for Spain
Sarah Bergqvist parent to Super Duper Ebba – Regional Rep for Sweden
Nine Pecoraro parent to Super Duper Stella – Regional Rep for Switzerland
Silvina & Luis Olivia parent to Super Duper Sofia – Regional Reps for Argentina
Direcelei Pizzi Franca parent to Super Duper Henrique – Regional Reps for Brazil
Kat Dunin parent to Super Duper Lima – Regional Rep Peru
Thank you to anyone who held a Facebook fundraiser using the donate button!
Thank you for all of the families who participated in the "Rare your blue" challenge on February 28th and to those who participated in "15 for Dup15"
Shout out to Aivry Zamora, big sister to duper Sidney, for organizing a fundraiser for the Alliance at her intermediate school! Aivry, you're a total rockstar!
As 2017 comes to a close, the Dup15q Alliance puts another year of advances into its books. We leave 2017 a stronger, larger and more educated community with a fire in our bellies for further discovery and answers about Dup15q Syndrome.
We are only able to look forward to the future of the Dup15q Alliance only because of where we have come from.
"We see further when standing on the shoulders of giants." – adapted from Issac Newton.
There are giants among us. Giants that dedicated passions, time, skills and energy to connecting the first families together, crafting a structure to form an official organization, improving medical care of those with Dup15q and providing leadership and direction for the Dup15q community.
While the name of the Dup15q Alliance may have changed, the purpose, goals, and spirit of the group has not altered over the past 25+ years. The objective to improve the lives of those affected by this syndrome remains at the core. We will continue to accomplish this through community, support, and advocacy. Together, we will drive research forward, together we will find targeted treatments, together we will contribute to help develop new compounds that will improve the lives of dupers, because together we believe; together we achieve.
Tonight we thank Donna Bennett and Brenda Finucane, co-founders of IDEAS. Without these two amazing women, there would be no Dup15q Alliance.
In 1987, Donna Bennett enrolled her son, Josh, at Elwyn Institute in Elwyn, PA. There, they met Brenda Finucane, a genetic counselor. Together, Brenda and Donna made a powerful advocacy team for people affected by chromosome 15q duplication. Although they knew Josh’s symptoms well, they could not find any information in the literature about the disorder, and they couldn’t find any other people who had a similar diagnosis.
One day, Brenda noticed a letter from a parent in the “Letters and Search” column of a 1990 issue of Exceptional Parent maga- zine. From the description, she recognized a child who was very similar to Josh. She encouraged Donna to write to the maga- zine, and Donna’s letter was published in the April/May 1992 issue. Soon, three families responded to Donna’s inquiry. When Brenda learned that there were four families who had found each other, she encouraged Donna to start a support group. This was the birth of IDEAS, which we now know as Dup15q Alliance.
Brenda and Donna nursed the edgling group out of Brenda’s office at the Elwyn Institute for years. During this time, the institute underwrote the cost of the group’s newsletters and the first two IDEAS con- ferences. Acting on a lead given by one of the families who wrote to Exceptional Parent, Donna contacted MUMS (Mothers United for Moral Support) National Parent-to-Parent Network. This organization connected her with 14 more families. Then, at Brenda’s suggestion, Donna connected with the Alliance of Genetic Support Group (now the Genetic Alliance) in Washington, D.C. IDEAS gained 11 more families. The Exceptional Parent exposure also continued to grow the group. When asked in the early years how they found IDEAS, 26 families said they found the group through the magazine or its Resource Guide. By 1995, IDEAS was serving 45 families. From there due to the efforts of these 2 astounding efforts the Dup15q Alliance has just continued to grow to now 1300+ families!
Brenda Finucane, MS, LGC, is a licensed genetic counselor and the Associate Director of the Autism and Developmental Medicine Institute of Geisinger Health System in Lewisburg, PA. Her clinical and research activities have focused on genetic causes of neurodevelopmental disorders, including dup15q syndrome. Ms. Finucane is widely published and has been in leadership roles in professional and advocacy organizations throughout her career, including a term as president of the National Society of Genetic Counselors in 2012. Ms. Finucane was also the co-founder of IDEAS (IsoDicentric Exchange, Advocacy, and Support) which subsequently became the Dup15q Alliance.
Talk about being strong as a mother! Both Nicole and Kadi served as Executive Directors for the Dup15q Alliance. These ladies truly worked diligently to ensure that the Alliance’s mission was central to the organization and all while maintaining and bolstering a sense of community. These two powerhouses worked together to establish IDEAS/Dup15q Alliance as an official non-profit organization.
Nicole Cleary, mother to duper Corinna served as a Board Member from 2001 to 2004 when the Alliance was IDEAS and as the Executive Director from 2004 to 2007. In her role as ED, Nicole introduced regional gatherings and the international family conference which brought together the first groups of more than a handful of families in one place to share experiences, knowledge and support and really create a sense of community. Nicole also established "The Mirror", the Dup15q Alliance newsletter, which offers support, information and hope to families with a chromosome 15 duplication. She was instrumental in the recruitment of clinicians and scientists to enhance the professional advisory board.
Kadi Luchsinger, mother to duper Ethan, served as an IDEAS Board Member from 2004 to 2007 and then took over as ED from Nicole in 2007 and served in that role as IDEAS transitioned to the Dup15q Alliance until her “retirement” in 2016. Kadi’s 9 year tenure as Executive Director was marked with growth and successes as the membership of the Alliance increased exponentially through awareness efforts, research and clinical care around dup15q related disorders improved through the efforts of the Alliance, and new programs to connect families were launched leading to a strengthened community. Kadi is especially proud of the work she did connecting the Dup15q families with one another via the Parent Match program and speaking with the newly diagnosed families.
Mike Porath, Board of Directors: Fundraising Chair
Father to duper Annabe. Mike has been serving on the Dup15q Alliance Board since 2010. Mike lives with his wife Sarah, duper Annabel, and sons Isaac and Henry. With an extensive background in journalism and digital media, Mike is using his talents to help the Alliance to support as families and to drive more research to lead to improving the quality of life for people with Dup15q Syndrome. He and ...his wife Sarah were inspired by Annabel and The Dup15q Alliance to found The Mighty (TheMighty.com), a media and digital health company designed to help people facing any type of health condition. In fact, the Alliance recently partnered with The Mighty and we are excited to share relevant stories with all of you. We are truly blessed to have such a strong voice for the Dup15q community. We are eternally grateful for all you have done and all we know you will continue to do for all of our children.
Colleen Lowell, mother to duper Grace
Colleen is one of our outstanding Chromosome Q-usaders. Colleen has earned this distinction because of her hard work in raising money and awareness for the Alliance and Dup15q Syndrome.. Since the inception of the "Believe Walks", Colleen has been instrumental in organizing the Seattle region's Believe Walk. Colleen has been an integral part of the Parent Match program, and also serves as a Regional Representative, offering support and guidance to Dup families in her area. Thank you, Colleen for all that you do...and so much more!
Len Thomas & Joanne Poore, parents to duper Lisa
Len and Joanne have made it a point to be incredibly active within the Dup15q community! Over the years, they have spent countless hours volunteering and working the international family conferences, and contributed many meaningful articles to The Mirror. Both Len and Joanne serve as Regional Representatives for their area (MA). Len was previously Board Chair and Joanne was the creator of the 2008 IDEAS calendar, which featured 109 IDIC children from 8 different countries! Recently, Len and Joanne were featured in the documentary "Believe" that screened at DISORDER: The Rare Film Festival in Boston, MA, where they had the opportunity to share their personal story of their experiences with Dup15q Syndrome. Thank you, Len and Joanne, for sharing your lives with us and for being so involved with the Alliance over the years. We really appreciate all of your efforts!
Fernando Gomez – Board of Directors: International Relations
Fernando Gomez joined the Dup15q Alliance Board in 2013 to support the International Relations projects. He and his wife Diane live in New Jersey and are the parents of two beautiful teenagers: Allison (Dup15q) and Michael. When not at work, Fernando and Diane work on the flower and vegetable farm in the growing season, ride the tractor and bike/trike with the children, or splash in a swimming pool somewhere, as school and work schedules allow.
Aiisha Sablan Ramiro - Chromosome Q-usader, Believe Walk Hawaii
Aiisha has organized two Believe Walks and what an outstanding job she has done! Anyone who follows her posts will know that you’re in for an amazing time. From bounce houses, to snow cone makers, and balloon artists (just to name a few of the many things there were to do!), Aiisha goes above and beyond to make sure that the Believe Walk is appealing to so many to truly maximize the attendance, which in turn generates funds!
Aiisha is constantly working hard to raise awareness and money for the Alliance using her organizational and networking skills and we are truly grateful for her hard work and dedication!
Debbie and Ed Morgan – Regional Gatherings
A big “Thank you” to the Morgans for opening up their home every summer to the NY/NJ/PA area families for a gathering. An afternoon full of swimming, chatting, laughter, and immense support is guaranteed when you show up at the Morgan home! How comforting it is to spend the afternoon in the presence of people who “get” you! Thank you, Debbie and Ed, for your hospitality!
Tony Marmo - Board of Directors Members: Finance Chair
Tony Marmo joined the Dup15q Alliance board in July of 2016. Tony lives in Upper Saddle River, NJ with his wife, Nicole, and three children, son Tyler, and daughters Samantha and duper Madison. Tony has extensive experience in the healthcare market and in non-profits and brings a wealth of knowledge to the board. When Tony joined the board, he indicated that he would like to serve on the Board to help promote awareness as well as advance clinical research for people living with Dup15q Syndrome. Specifically, to help the Dup15q Alliance and its research partners discover targeted treatments that will help improve the lives of our children. We are grateful to Tony for his willingness to share his expertise and his passion with our families and the Dup15q Alliance.
Ruth Kross, mother to duper Marlena, Chromosome Q-usader
Ruth has been an integral part of the Dup15q Alliance for several years. Ruth served on the Board in 2003, and we are very grateful for her service. Ruth also spearheaded and serves as the director of the Sunshine Committee, which recognizes the happy and less happy moments in our families’ lives and helps them to remember that there is always someone there who is thinking about you!
Ruth has been instrumental in organizing the Believe Walk in Illinois and what a wonderful event she puts together! Ruth draws in a tremendous crowd and helps to raise so much money and awareness for our organization. Ruth has also created the Kross Memorial Fund, which allows for our members to receive a scholarship to attend the family conferences when their finances would not otherwise allow that. This scholarship is set up in honor of Ruth’s beloved brother, and we are truly honored to keep his memory alive.
Robert and Adrienne Paradis, parents to Aidan
Thank you, Robert and Adrienne, for coordinating the regional gatherings in the state of Colorado. Regional gatherings take a great deal of planning, but the ends always justify the means because they are always a tremendous success. It is a special opportunity to bring other dup families together and really be in your comfort zone. Thank you for organizing these events for your neighbors! Robert and Adrienne also serve as Regional Reps. This is a very important role in our organization, and it allows families to have a point of contact in their area to help through the ups and downs of the diagnosis. Thank you for your kindness and generosity to our families!
Jane Kim, MD .- BOARD OF DIRECTORS MEMBERS: Clinics Network Working Group Chair
Jane is the mother to Zachary (dup15q) and 4 year-old Abigail. She joined Dup15q Alliance in 2012 after Zachary was diagnosed with idic(15). She and her husband are both adult neurologists for Kaiser Permanente in northern California. Jane is especially interested in helping with the dup15q clinics and heads up our Dup15q Alliance Clinics Working Group where she helps with the management and operations of the Dup15q clinical network. She has the unique perspective of being both a clinician and a parent.
Ivonne Ruiz and Christine Benitez - Chromosome Q-usaders Miami Believe Walk
Though the hurricane in September forced you to push back your date, you never faltered and you forged ahead, pulling off another successful Believe Walk! We thank you for those endless nights, hours of planning, and for your dedication to the Alliance!
Ivonne Ruiz, Regional Rep
Thank you, Ivonne, for serving as a regional rep! You have given so many families so much help and your passion to grow and add to the program are greatly appreciated by all of your fellow families!
Lanae Follett, Regional Rep
Lanae, as a regional rep, you have a large area to cover, but no person is ever forgotten by you! You have wonderful advice to share, and you have truly mastered the art of adaptive clothing. Thank you for bringing a smile to our faces every day and for offering support to your regional families!
David Gifford - BOARD OF DIRECTORS MEMBERS: Governance Chair
David joined the Board of directors in 2015. He his the grandfather to duper Annabel Porath. She is the reason that he became familiar with the organization, was compelled to serve on the Board. An engineer by education with extensive experience in project management for over 30 years, David uses his skills to serve as the Governance Chair of the Board. We are thankful for his dedication to supporting our organizational growth and his encouragement in the science and research fields as well as improving the our clinics and support that we provide. We are also thankful for his engagement in the political/governmental/legislative aspects in which organizations like the Dup15a Alliance need to stay active.
Rachel Segars, Regional Rep
Thank you, Rachel mom to super duper Luke, for serving your areas as a regional rep! Our families are so very lucky to have you to reach out to and depend on with questions or concerns that may arise at any time about their dupers! It’s not always an easy job, but we thank you for approaching each day with so much care and concern!
Tina Delorenzo & Christine Hemingway,
Chromosome Q-usaders - Believe Walk, Medford
This dynamic duo brings together all ends of New Jersey for the Medford Believe Walk! An amazing basket auction, firetrucks, a DJ, bubbles galore--and lots of smiling faces! Ladies, your efforts are truly appreciated and your success is immeasurable!
Guy Calvert, D.Phil.- Board of Directors: Professional Advisory Board Liaison
Guy joined the board in 2011 and headed up the Alliance's research agenda. By background he is a math PhD, and works at Twitter on the marketplace engineering team as a data scientist with a focused on auction design. He came to Twitter after 7 years at Google as a research analyst where he also focused on ad auctions, and 10 years on Wall Street as a quantitative analyst. He also spent a year as a road gambler, playing poker tournaments and cash games. Outside of work he enjoys spending time with his wife and two children, reading, playing board games, fighting for freedom, driving medical research, and contesting the World Series of Poker
Lisa Feehery mom to Super Duper Gavin and Regional Rep
Thank you, Lisa, for serving as a regional rep. You’re always on hand to offer wonderful advice and a supportive ear not only to those in your region, but to all dup families. We are grateful for you!!
Todd & Katie Supina -Regional Reps
Katie, a dup15q mom, spent countless hours helping to organize the 2013 Reach for the Stars Conference in Minnesota. She continues to help Dup15q Alliance, by shipping our store orders all around the world. Thank you, Katie!
A Super Duper thank you to those who have served on the board. We are grateful for so many who have given their time, dedication and commitment to helping build the foundation of the Dup15q Alliance.
�� We are what we repeatedly do. Excellence, then, is not an act, but a habit.
Karen Sales, Corporate Secretary and parent to Super Duper William
Linda Meagher, Board Member and parent to Super Duper Jessica
Adrienne Campolmi, Board Member and parent to Super Duper Jackson
Rachel Doucette, Vice President of Communications and parent to Super Duper Benjamin
Cindy Johnson, Board Member and parent to Super Duper Alexis
Lisa Lightner, Board member and parent to Super Duper Kevin
Lori Eisenahaur, Board member and parent to Super Duper Annika
Dana Tilton, Board member and parent to Super Duper Addison
Brian Gazewood, Board member and parent to Super Duper Jacob
Paul Rivard, First Finance Officer and parent to Super Duper Megan
Heather Bruce, Board member and parent to Super Duper Anna
A Super Duper thank you to those who have served on the board. We are grateful for so many who have given their time, dedication and commitment to helping build the foundation of the Dup15q Alliance.
�� We are what we repeatedly do. Excellence, then, is not an act, but a habit.
Elaine Lowell, Board member and grandparent to Super Duper Grace
Patti Rubel, Board member and parent to Super Duper Adam
Lori George, Board member /IDEAS Finance Officer and parent to Super Duper Will
Michele Hughes, Board member and parent to Super Duper Gabrielle
Cindy Johnson, Board member and parent to Super Duper Alexis
Paula Davis, Corporate Secretary and parent to Super Duper Emma
Julie Orton, Board member and parent to Super Duper Mikaela
Frank Kobuszewski, Board member and parent to Super Duper Tyler
Vicki Miller, Board member and parent to Super Duper Devon
Danielle Wagner, Board member
Jane True, Board member, Mirror Proofreader and parent to Super Duper Clare
Rylie McHam, Board & Current Regional Rep and parent to Super Duper Jimmy
Paul Karch, Former Board Chair and parent to Super Duper Rachel
Today, we thank our former administrators and interns, both past and present!
Deirdre Popp - Deidre was part of the Alliance for a year and half and during that time she supported many administrative aspects of the organization. Her can do attitude and her flexibility were a marvelous asset to the Dup15q Alliance.
Tracy Holmes - Though Tracy was with the Alliance for a short period of time, she oversaw the Believe Walks in 2016 and was an amazing cheerleader for all of the organizers.
Kim Maring- in her 9 years with the Dup15q Alliance Kim was instrumental in in the achievement of many large milestones of the Alliance. Her attention to detail, organization and dedication were extraordinary.
Rachel Costanza - ensuring our message, news and stories reach our families and supporters. Rachel spent many hours on our outreach mailings.
Sumana Rallapalli, Dup15q Alliance Database Intern
Sumana recently graduated from University of California, Los Angeles with a B.S. in Neuroscience. During her undergraduate career, Sumana volunteered in Dr. Shafali Jeste's lab and Dup15q clinic at UCLA, and developed a passion for working with children with Dup15q and their families. She was especially moved by the Alliance's invaluable role in supporting and connecting these families. She has been working across partnering organization evaluating databases and data collection to push collaborative research forward.
Haley March, Dup15q Alliance Intern
Haley March is a senior at the University of Colorado-Boulder. During her internship, she provided invaluable support for the 2017 Family Conference and Science Symposium planning and execution. Her energy and dedication to the Dup15q Alliance as outstanding and she was inspired by the Dup15q Alliance community, so much so that she has altered her career plans to include developmental disabilities. We look forward to her seeing what the seed the Dup15q Alliance planted grows to be!
The Mirror is the Dup15Q Alliance’s quarterly newsletter. The purpose is to keep all families and supporters up to date on the goings on within the Alliance. This includes accolades, relevant research information, shoutouts to volunteers, and stories about our families.
There are many roles needed to be filled in order produce this newsletter: the proofreader, who ensures that all articles are free of spelling and grammatical errors, The designer, who lays out the content and photos that will be included, and the editor who assigns the stories and ensures that everything is completed in a timely manner. It takes all of these people coming together to produce this amazing newsletter on a quarterly basis.
In addition to Benda Finucane, Jodie Miller, Jane True, Kim Maring and Nicole Cleary (included in previous days of Thanks for Giving) The following women were major contributors to the success of the Mirror.
Jean House - Mirror Editor
Alison Kalnicki - Proofreader
Melissa Hairr- Designer
In many ways, the Dup15q Alliance is the little organization that could. Though we are small in numbers, we are mighty in force. We believe strongly in our leaders and our professional advisory board, but for so many, we need something else. Something more. It is said that good things come to those who wait, but that couldn't be further from the truth. Good things come to those who put themselves out there day in and day out and be the change they wish to see.
Today, we thank the pioneers in our past larger scale fundraising. These wonderful people believe that if they can do just a little bit more---catch the eye of someone new, help raise enough money to fund a clinic, or help pilot a research project. They truly are the epitome of our motto, "Together we BELIEVE; Together, we ACHIEVE
Ember Burke and Shannon Rozovics together with their families for organizing the Drive for Dup15q. Extra thanks to Shannon Rozovics for serving as current Regional Rep.
Todd Ebensperger for organizing the Kay Jay.
Buissan family for organizing the Sunshine walk.
Rasmussen Family for organizing the Rasmussen Race.
Brian and Susan Gazewood for organizing the Lewis invitation Golf tournament.
The Miller family for organizing the Believe Walk Appleton.
Angelic Yao for organizing the Believe Walk Atlanta.
Tiara Nibbs for organizing the Believe Walk Indianapolis.
Today, we offer our thanks and gratitude to the amazing Sunshine Committee.
The goal is the Sunshine Committee is to celebrate your duper’s biggest moments and to honor your family in the moments it is needed the most. It is because of the hard work and dedication of our Sunshine Committee volunteers (and there are A LOT!) that our children are celebrated!
Adam Evaristo, parent of Super Duper Lauren
Adrienne Felterman parent of Super Duper Charles
Cindy Hall, supporter
Elaine Lowell, grandparent of Super Duper Grace
Franny Mackling, parent of Super Duper Kaylor
Gina Peters, parent of Super Duper John Paul
Heidi Snell, parent of Super Duper Lilla
Jenni Melder, parent of Super Duper Elisabeth
Jill Baker, parent of Super Duper Riley
Jill Kertzman, parent of Super Duper Cody
Julie Foster, parent of Super Duper Jonathan
Katie Hylton, parent of Super Duper Mitchell
Kristina Hernandez, parent of Super Duper Isabella
Krystal Silva, parent of Super Duper Ramiro
Linda Meagher, parent of Super Duper Jessica
Lisa Reimers, supporter
Loretta Wahlin, grandparent to Super Duper Ashton
Maria Santarpia, parent of Super Duper Emily
Melissa Kamps, parent of Super Duper Claire
Nicole Startup, parent of Super Duper Kole
Noel Marcoux, parent of Super Duper Jeffrey
Pat Wininger, grandparent to Super Duper
Rita Pappas, parent of Super Duper Carly
Robin McBride, grandparent of Super Duper Lucas
Rosemary Gifford, grandparent to Super Duper Annabel
Ruth Kross, parent of Super Duper Marlena
Sabina Horigan, parent of Super Duper Deen
Victoria Lee, parent of Super Duper Ashley
Kim Ritter, parent of Super Duper Travis
Patricia Tucker, supporter
Pam Luchsinger, supporter of Super Duper Ethan
Sarah Spence, supporter
Jeanine Rossbach, parent of Super Duper Michael
Angie Mittelbuscher, parent of Super Duper Mason
Karen Rasmussen, supporter
Susan Gazewood, parent of Super Duper Jacob
Julie Saenz, parent of Super Duper Emily
Kristin Waltemade, supporter
Teana Ebensperber, parent of Super Duper Kayden
Jennifer Ciero, Aunt of Super Duper Dominic
Jennifer Waltemade, supporter
Nine Pecoraro, parent to Super Duper Stella
Laura Stark, parent to Super Duper Ben
Ada Lau, parent to Super Duper Arden
Lauren Bussian, supporter
Debbie Neller, parent to Super Duper Shannon
Shari Buitendorp, parent to Super Duper Jon
Ivonne Feterman, parent to Super Duper Devin
Sue Thibedeau, grandparent to Super Duper Ryan
Diane Johnson, supporter
Tiffany Ciero, parent of Super Duper Dominic
Sharon Vivenzio, great aunt to Super Duper Andrew
Lindsey Borden, parent to Super Duper Andrew
Ember Burke, parent to Super Duper Brendan
Roxann Zamora, parent to Super Duper Sidney
Brad and Julie Peck, parents to Super Duper Valerie
Rebecca Schuelke, supporter
Crislym Meria, grandmother to Super Duper Urijah
Elizabeth Powers, supporter
Sophia Battle, parent to Super Duper Kathryn
Marian Kapp, parent to Super Duper Felicia
Cynthia Minnini, parent to Super Duper Nicholas
Carmen Hernandez (Paez), Supporter of Super Duper Sofia
Erika Hagood, supporter
Gill and Rick Little, parents to Super Duper Kyra
Laura Garraway, parent to Super Duper Katherine
Suzanne Koury, supporter
Colleen Cox, parent to Super Duper Fynn
Connie Kasari, supporter
Jaimie Morgan, supporter
Gloria Ferrer, supporter
Angela Ritz, parent to Super Duper AJ
Amanda Frietsch, parent to Super Duper Thomas
Danielle Johnson, parent of Super Duper Madison
Sarah Barton Johnson, parent to Super Duper
From the moment of diagnosis, so many of us can say that the doctors we have seen know nothing about our child or how to provide them with the best care. The intricacies of our children’s complex medical needs are not often understood by the average doctor.
Our organization was founded by parents trying to learn from each other to help their child. To learn from one another is the purpose of all patient advocacy groups, especially those of rare disorders. Through the vision of our leadership over the years, Dup15q Alliance has taken learning from one another to another level, to the establishment of our multidisciplinary clinics where parents and physicians endeavor to be partners in the care of their child with Dup15q syndrome. It was former Executive Director Kadi Luchsinger who came up with the idea of the clinics--a central location where the physicians and supporting staff were knowledgeable in Dup15q Syndrome and how to help our children. Today, there are 8 clinics nationally and the Alliance hopes to continue to foster the existing clinics and bring about more in the years ahead!
Today, we say thank you to all of the wonderful clinicians serving all of our families and helping to offer each child treatments tailored to their individual needs.
Partnerships with other organizations, big and small, is also instrumental to the advancement of the Dup15q Alliance, working together and learning from these other organizations helps us to support all dupers in a larger level. Today, we thank ALL of the organizations we have been so fortunate to partner with!
The Dup15q Alliance Clinics: https://www.dup15q.org/treatment/dup15q-clinics/
Rare Epilepsy Network
Epilepsy Leadership Council: https://www.epilepsyleadershipcouncil.org/
Autism Science Foundation
American Epilepsy Society
Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA)
Angelman Syndrome Foundation: https://www.angelman.org/
Infantile Spasms Action Network: http://www.childneurologyfoundation.org/pr…/infantilespasms/
Child Neurology Foundation
Epilepsy Foundation: https://www.epilepsy.com/
Tuberous Sclerosis Alliance
CURE (Citizens United for Research In Epilepsy)
RDLA (Rare Disease Legislative Advocates): http://rareadvocates.org
EveryLife Foundation for Rare Diseases
National Organization for Rare Disorders (NORD): https://rarediseases.org/
Dup15q Australia Ltd
Phelan-McDermid Syndrome Foundation: http://www.pmsf.org/
Non-Solo 15 www.idic15.it
Asociacion IDIC 15 (www.idic15q.es.)
Barth Syndrome Foundation
The National Fragile X Foundation
The Danny Did Foundation
Coriell Institute for Medical Research ccr.coriell.org
A HUGE THANK YOU TO OUR DONORS, LARGE AND SMALL. The Dup15q Alliance would not be able to do what we do without financial support, and we are thankful to the generous backing of our DONORS. The Dup15q Alliance ensures that each dollar donated goes directly to support our Mission.
All of the people and groups we have mentioned over the past 31 days have led to spreading awareness about dup15q syndrome, the women below contribute amazing amounts of encouragement to the Alliance members to continue increase that awareness.
Lauren Weissberg: Dup15q Alliance Awareness and Outreach Coordinator, Chromosome Q-usader
Upon receiving her son Holden’s diagnosis in May 2016, Lauren has been determined to raise money and awareness for Dup15q Syndrome so that all of the impacted families can have something to hope for and believe in. Since Holden’s diagnosis, she has annually hosted the “Hope for Holden to benefit the Dup15q Alliance” event and raised over $25,000 and joined the ranks of the Chromosome Q-usaders. Lauren joined the Dup15q Alliance administration in 2017 and has since been instrumental in helping other parents to organize awareness/fundraising events to benefit the Alliance and has also taken to social media to help raise awareness for Dup15q. Lauren is thrilled and truly honored to be an official member of the Dup15q Alliance and feels strongly that her role as an impacted mother is going to inspire her to work even harder to raise money and awareness for all of our children!
Naka King, Chair: Believe Committee Chair, Chromosome Q-usader
Naka, like so many parents, after receiving her daughter Rylan’s diagnosis in 2015, acceptance was tough, but in 2016 she took action and organized Running for Rylan, and since then she has not stopped! She has taken the bull by the horns and helped found the Dup15q Alliance Believe Committee, a parent committee that support any families who want to hold events in their communities to make outreach accessible to all families. Her initiatives are insightful to the needs of our community, her energy is contagious and we are thankful for her willingness to donate her time and efforts to help other families engage their communities in awareness and advocacy.
The last day of 2017 brings our “31 days of Thanks for Giving” to an end, but by no means ends our families continued need for support. The Dup15q Alliance has made amazing strides over the past 25+ years but there is still so much more to do to improve support, education, research, and medical care for those with dup15q syndrome. To see all 31 days, see https://www.dup15q.org/events/news/31-days-of-thanks-for-giving/
We leave 2017 a stronger, larger and more educated community with a fire in our bellies for further discovery and answers about dup15q syndrome. We will continue to accomplish this through Community, Support, and Advocacy. Together we will drive research forward, together we will find targeted treatments, together we will contribute to help develop new compounds that will improve the lives of dupers, because together we believe, together we achieve!