Cofounder & President
In April 1999, my husband and I, as eager and wide-eyed new parents, welcomed our son Ari into the world. While we counted 10 fingers and 10 toes, we knew something was different about our son. Two weeks later, our geneticist informed us that Ari had a rare genetic disorder called Chromosome Ring 14. The doctor handed us a periodical from 1960 that was completely void of actual useful information other than the likeliness of seizures, informed us that our son may not walk or talk, and told us to, “go home and enjoy your boy.”
At a time where social media did not yet exist, we scoured the internet for information and registered with NORD (National Organization for Rare Diseases). With their help we discovered a small group of families around the world who were also learning what it meant to have a family member/child with Ring 14 and in 2002, we were lucky enough to connect with a newly founded Ring14 Italy. While we were finally not alone in our diagnosis, we came to understand that many of the health issues we would face with Ari would be unique.
In 2006 Ring14 Italy had a family conference, and we were able to meet with other families and share our challenges. Words cannot express the overwhelming relief and joy that my husband and I felt when we had the chance to truly connect with other families that looked like ours. I immediately knew that I wanted to help bring this organization to the US. I wanted to help more families struggling with the understanding of Ring14 and what it means for their loved ones. I wanted these families to know that they are not alone.
In 2011 along with 3 other remarkable Mothers of Ring14 children, Ring14 USA Outreach was founded. As cofounder and Vice President I have had the honor of helping to guide new families on their journey. Over two decades ago, I landed in a place I hadn’t planned. Yet I am thankful, for this destination has been richer than I could have imagined!
Over the past 22 years, we have had ups, downs, and medical challenges even the doctors do not understand. While Ari does not talk, he does walk, and he is an amazing communicator. He has taken us on an incredible journey allowing us to meet so many wonderful families making lifelong friends that we would never have met.
I am grateful to have the opportunity to continue the work of this incredible organization and continue helping Ring14 USA connect people together to share and help in their families’ journey.
VP & Director of Social Media
I am the mother to Brooke who, after 3 months of continuous seizures causing numerous hospitalizations as well as 2 mediflights, was diagnosed with Ring14. Back then, we didn’t have social media or the amount of awareness we have today, so my journey was very scary and lonely. Sadly, even with all these resources, people have gone years alone in their journey; therefore, it has and continues to be my mission to ensure that no parent ever navigate this syndrome alone. I am very grateful to be able to serve this rare, yet beautiful community.
Like many others in this advocacy space, I arrived here because of a precious child, my youngest daughter Marie. Marie was born in April of 2005 and started having clusters of seizures at 3 months. Within a month of onset, we had a diagnosis of r(14) syndrome due to a simple karyotype which was part of the standard genetic workup at the time. Not much was known about this ultra-rare syndrome, but we understood enough to know that our lives were headed in a different direction.
A trip to Italy in 2007 for the first International Ring14 family conference was so impactful – meeting the families, seeing the range of abilities among the affected children, hearing the clinicians and researchers talk about all the challenges, but ultimately finding few answers. It took some time to learn how to balance the care of this fragile child with the care the rest of my family needed while still trying to maintain my professional life in academia as a mathematician. For a while it seemed untenable to add anything else to our life, but priorities shift as needs are exposed. And in 2011 it was time to join the fight to improve the lives of other families within this small community by cofounding Ring14 USA with other 4 other mothers. I have had the honor of being President/Director since 2013.
Throughout this journey I have learned the value of collaboration – we cannot do this alone. I believe it is important for us to see ourselves as part of the Ring14 community here in the United States, but also as part of the International Ring14 community. Likewise, Ring14 is one of many rare epilepsies syndromes, which are similarly nested within the large rare disease community. It will take all of us working together and leveraging different commonalities to bring effective treatment to our respective communities.
One child brought me into this space, but all the incredible children and families I have met along the way and those still yet to come keep me here. I want to be part of the solution that makes life brighter and easier for these children and families.
Secretary
I have been a Registered Nurse for more than 27 years, working in primarily in pediatrics in various settings over the course of my career. These include in-hospital, elementary school, summer camp, and home health settings, during which I have provided nursing care and support for children with many types of health needs, including Ring 14 Syndrome. I have been blessed to have had the opportunity to meet and work with many of wonderful individuals affected by Ring 14 and their families over the past 16 years, including at multiple Ring 14 USA conferences. I have been married to my husband Jim for 26 years, and we are parents to 2 grown children, James & Sarah.
Director of Fundraising
December 12, 2000, my son Cameron was born with a rare chromosome order that was unknown to me. I found out through an amniocentesis that my beautiful baby boy would be born with Ring14 (ring chromosome 14 syndrome). Even though I had spent months reading and trying to research Ring14, my real education did not start until Cameron was around 10 months old. That was when Cameron’s seizures started, along with noticeable delays in Cameron’s over all abilities to mentally and physically do what other toddlers his age were doing.
There was little to no resources for Ring14 families and hardly any research being conducted on Ring14. The answers to my questions about my son’s future all came from other Ring 14 parents, not books and the internet, but families who were already living in the world of Ring 14.
At that time, I knew that I had to do all I could do to spread Ring14 awareness, to support Ring14 research, to help build a stronger Ring 14 community, and to help get information out to families that could potentially make a difference in their lives by improving the wellbeing and life opportunities of every person born with Ring 14.
Director of Family Outreach
My name is Tim Jun, and I have been married to a wonderful woman, Hankyung Lee, for almost fourteen years. We have been blessed with 3 children — 2 girls and a boy. Our oldest, Sharon, is now 9 years old. She was diagnosed with Ring 14 when she was 10 months old. I remember the time, clearly. She suddenly had a long-lasting seizure on the day of my birthday, and she was rushed to the hospital. Then, a couple days later, we found out that she had Ring 14. Ever so frightened, in part because Sharon had something so rare, we searched frantically for anyone who knew anything about Ring14 when we heard the news about. Thankfully, we found Ring14 USA, a group that was created by concerned parents who came before us. They exist to provide hope to ring 14 families who believe they are alone in the world. I simply want to help Ring14 USA provide a sense of family to other people as they have done for me.
Board Member
I am the mother of Lisa who has Ring 14 and is 38 years old. I have been married to my wonderful husband, Wesley, for 46 years and we have one other daughter, Natalie and her husband, Andy, and one grandson, Connor. I grew up as a Navy brat and have lived in several southeastern states. I am very proud of the fact that I graduated from LSU from undergraduate school and Georgia State University with my Master’s in Education. As all LSU tigers do, I bleed purple and gold!
I am a retired history teacher and currently manage the office at our family business which rents tents, and other equipment for weddings and events. I serve on the Board of Directors as Past President at the Life Enrichment Center which is where Lisa attends a day program for adults with IDD. I also serve on the Executive Board of United Methodist Women at our local church as Treasurer. I am a member of Georgia’s Parent-to-Parent and have enjoyed meeting families whose children also suffer from seizures. I had the pleasure of being a Special Ed teacher at a private preschool for children with special needs when Lisa was young. It was the most rewarding thing I believe I have ever done – other than be Lisa’s mother, caregiver and advocate.
Wesley, Lisa and I had the pleasure of attending the first Ring 14 conference in Reggio Emilia, Italy in 2006. This was the first time we had meet other Ring 14 families in person and were astounded to walk into a room “full of Lisas”-that was when we saw the facial similarities of children with Ring 14. We would love to return, but the high cost of getting to Europe is a big deterrent. We also attended the first USA Ring 14 conference in 2016 in San Antonio. It was so good to meet up with some of the same people we first met in Italy and meet some that we had connected to through the Ring 14 Facebook page. We have learned so much from other Ring 14 families and hope that we have helped them as well. I especially love meeting with and getting to know families whose children have similar disabilities and medical diagnoses. I believe no one should have to walk alone in dealing with what my husband and I often had to in the early days of Lisa’s life. We have made lifelong friends with some of these people. No one can understand what we are going through unless they have experienced it themselves. We are each other’s best support.
Board Member
People tend to judge others based on external appearances, like skin color, and imagine that represents important difference among individuals. It turns out, if you compare two people’s DNA, they are over 99.5% identical.” That statement by Dr. Dennis Minchella sparked Ruby’s interest in genetics, which led to over 10 years of clinical and research experience in molecular biology and cytogenomics, and a Master of Science degree in Diagnostic Genetics. Ruby Liu is a cytogenetics technologist who performs and analyzes genetic tests that help with diagnosis, prognosis, and treatment decisions of cancer. Over the years, Ruby has worked with scientists and doctors that have made a huge impact on Ring 14 and other rare genetic disorders. Ruby is proud to follow the lead of her mentors in utilizing her skills to advocate for those impacted by Ring 14 syndrome.
Blogger
Before my son, Matias, was diagnosed with Ring14 in 2007, I had never heard of this rare chromosome disorder and it quickly became apparent that he would need me to fiercely advocate for him. As he grew older and we met other families like ours, my passion grew to advocate for not only my own child, but every child diagnosed with Ring14 and their families. As a mother of 5 children, I understand that this is a syndrome that effects the whole family and that each member needs support.
I became a Ring14 USA board member in 2018. Recently, I began blogging for the organization as well. My hope is to help provide a soft landing spot where other families can find information, understanding, and support. I also strive to bring awareness to Ring14, as awareness is the seed that blooms into research and knowledge about such a rare diagnosis.
We are looking to expand our General Board!!!
Our Board of Directors is responsible for determining the organization’s mission and purpose, ensuring adequate resources and financial oversight and overseeing the programs and services provided by Ring14 USA. Board Members serve without compensation are expected to contribute.
Role of Board Members:
- Communicate with the President and other board members
- Attend meetings and actively participate on a committee
- Follow through on assignments
- Support program initiatives
- All activities and decisions should be in the best interest of the organization, not in the best interest of the individual board member.
- The board should do everything in its power to reach organizational goals, but members still have an obligation to follow Ring14 USA guidelines.