Julie Cohen, ScM, CGC is a senior genetic counselor at the Kennedy Krieger Institute in Baltimore Maryland. She has over 10 years’ experience and specializes in genetic counseling for patients and families affected by leukodystrophy, muscular dystrophy, and other neurogenetic disorders and developmental disabilities. Julie received her Master’s degree from the Johns Hopkins/National Human Genome Research Institute Genetic Counseling Training Program. Julie is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.
Rebecca McClellan, MGC, CGC is a board-certified genetic counselor who splits her time between the Johns Hopkins Center for Inherited Heart Disease and the Metabolism Clinic at Kennedy Krieger Institute. In her role with the Center for Inherited Heart Disease she works primarily with adult and pediatric patients with inherited arrhythmia conditions, hypertrophic cardiomyopathy and families impacted by sudden cardiac arrest and death. At Kennedy Krieger she works with the Metabolism clinic helping patients with mitochondrial and other rare metabolic conditions such as Barth syndrome and Smith-Lemli-Opitz syndrome. She has a special interest and dedication to helping families connect to each other and helping support organizations such as the Barth Syndrome Foundation and SADS, as well as bringing awareness to carrier issues for families with X-linked genetic conditions. She is also a member of NSGC’s Ethics Advisory Board and has served on the Ethics Committee at Kennedy Krieger.
Dr. Sidonio is the Director of Hemostasis and Thrombosis Clinical Operations and Clinical Research at Children’s Healthcare of Atlanta and Emory University. He attended medical school at the University of Alabama at Birmingham School of Medicine and completed his residency at the University of Louisville/Kosair Children’s Hospital in Louisville, Kentucky. He was a fellow at the University of Pittsburgh Medical Center/Children’s Hospital of Pittsburgh, where he also received his Master of Science in clinical research. He is the PI of multiple national projects focused on hemostasis including the Emicizumab PUPs and Nuwiq ITI, Wilate prophylaxis, (Wil-29, Wil-31), ATHN 9 (von Willebrand disease) and MOTIVATE studies.
Dr. Sidonio and his wife live in Atlanta with their two young boys.
Taylor Kane is the founder and president of Remember the Girls, an international support and advocacy group which unites, educates and empowers female carriers of rare genetic disorders--a group which is underrepresented and often overlooked by the medical profession. Taylor learned that she was a carrier of the rare genetic disease Adrenoleukodystrophy (ALD) after her father died from the disease when she was five years old and has been a fierce advocate ever since. In addition, she currently serves as a leader of the Young Adult Representatives of the EveryLife Foundation for Rare Diseases, educating young adults with rare diseases to advocate for more affordable, safe, and effective treatments. Taylor is an accomplished speaker, an author, and an award-winning activist. She is presently a junior at The George Washington University, where she is pursuing a degree in Political Communication and a minor in Women’s Studies.
Emma Bliss found out she was a genetic carrier for a rare neuromuscular x-linked disorder, Myotubular Myopathy, the unfortunate way that many other women find out about their X-Linked carrier status - by giving birth to a son with the affected disorder. She is a mother to a healthy boy born in 2014 and was looking forward to welcoming his baby brother into the world in November 2017. After a perfect pregnancy, standard genetic testing included, Caleb Bliss was born into the world severely affected by this condition. After getting the results back from a whole exome genetic sequencing test, it was confirmed that Caleb received a mutated MTM1 gene from me. Caleb lived a beautiful and peaceful short 5 months and 1 day in the NICU. Her family has found peace and healing in knowing he never felt pain or discomfort. From this loss and from the knowledge we now have, Emma has a new purpose. X-Linked disorders are more common than most know, genetics is such a confusing area of medicine and one we don’t have all the answers too, but advocacy and awareness are so important. For all the babies born, male and female, for all those affected with these diseases and absolutely for the women carriers, we must stand strong together.
Diane Kane Johnson is the president of Run for ALD, a non-profit organization which she founded with her late husband, Jack, after he was diagnosed with Adrenoleukodystrophy. Over the past eighteen years, the organization has raised over $275,000 for ALD research. Diane has a daughter who is a carrier of ALD, as are a number of her extended family members. Diane currently serves as legal counsel for a large restaurant/entertainment complex in South Jersey, having had fifteen years of prior experience as a labor and employment law attorney.
Jade Day is a 2017 Oklahoma Partners in Policy-Making Graduate. She is an advocate; experienced in public policy, complex medical care, patient and disability rights. Jade is an X-linked carrier of FG1 Syndrome. She is the mother of 3 sons and her eldest has FG1 Syndrome. Jade is a citizen of the Cherokee Nation of Oklahoma. She has dedicated many years advocating for disability rights; with over 11 years experience with undiagnosed and rare disorders. She has a long-standing relationship with tribal, state and federal legislators and a network of advocacy peers. Jade is an active member of other boards in relation to rare disease advocacy. Her heart is in service of others, particularly marginalized populations.
Mindy Cameron discovered that she was a carrier of Duchenne muscular dystrophy several years after her youngest son was diagnosed with the X-linked genetic condition in 2004. She has been a very active member of the Duchenne advocacy community for the past 15 years and now serves as the Advocacy Director for Little Hercules Foundation, where her work primarily focuses on the Duchenne Family Assistance Program. She is also a board member of the Muscular Dystrophy Family Foundation, a non-profit that helps families in Indiana affected by any form of muscular dystrophy.
Mindy has been fortunate to participate in a study currently underway at Nationwide Children’s Hospital that is looking into the effects of Duchenne on female carriers. Through her participation in the study and through her work as a longtime advocate, Mindy has learned much about the spectrum of health issues that can affect Duchenne carriers. Through her work with Remember the Girls, Mindy wants to help promote widespread recognition of the emotional and physical health issues that can affect carriers of X-linked genetic conditions.
Emma Hayes is an honors student at Saint Anselm College pursuing a degree in Chemistry. She has a strong interest in the X-linked disorder adrenoleukodystrophy (ALD) which stems from a family history with the disease. Her personal experiences with ALD catalyzed her desire and interest to bring awareness to this disease and other X-linked disorders.
Emma is a member of the Young Adult Representatives of RDLA (Rare Disease Legislative Advocates) and is heavily involved in ALD Connect, the patient organization for ALD. Emma also shares her time willingly in many other ways as a student at St. Anselm’s. She provides leadership in the College’s Meelia Center for Community Engagement where she has been involved with programs such as Girls at Work and Girl Scouts. Emma hopes her leadership and communication skills, paired with her drive and passion will lead to a career in patient advocacy and engagement for rare diseases after graduation.
Jennifer Krafchik is the Deputy Director for the National Woman’s Party at the Belmont-Paul Women’s Equality National Monument. In October 2018, she lost her uncle, Mike, and her brother, Geoffrey, to conditions resulting from their shared disease, Adrenomyeloneuropathy (AMN). It was after their deaths that Jennifer was led to the important work of Remember the Girls and the world of rare disease and patient advocacy. Although Jennifer is not a carrier of the ALD, her mother and sister are both carriers and it is very possible her nieces may be carriers of the disease.
Jennifer has been a women’s rights activist for more than 15 years and is now evolving that focus to women’s rights in healthcare. She is taking the time to learn as much as possible about X-linked diseases and aiming to find ways to honor the memory of her brother and uncle through action. She hopes to use her personal and professional experience to educate, raise money for, and advocate for patients with rare diseases.
Jennifer loves all things women’s history and encourages her bold and spirited 9-year old daughter, Eleanor Cady, to explore history with all of its nuances and complications. Jennifer is a voracious reader, loves Buffy the Vampire Slayer, The West Wing, and Gilmore Girls, and spends as much time as possible with her husband, Doug, her daughter, and the rest of her family.
Holly is a devoted mother of two teenage boys affected with Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN) and her oldest son also has Autism. After their diagnosis of ALD back in 2006 she has become their personal researcher, caregiver and cheerleader. She attends the yearly ULF and ALD connect conferences and participates in treatment and research studies with Dr. Eichler at Mass General, Dr. Fatemi at Kennedy Krieger, and Dr. Van Haren at Stanford. She also follows the research being done globally through the connections she has made with doctors and researchers over the years. She prides herself in leaving “no stone unturned.”
On the lighter side, she loves book stores and has a collection of books she’ll read someday.
She believes the world is meant to be explored and travel as often as possible.
She exercises daily and eats a Mediterranean diet -- something particularly important to keep her core and legs strong since she also is a carrier of ALD/has AMN
Finally, she always roots for the underdog and will spend her life doing so.
Sydne Pantaleon is a mother to a beautiful little boy, whom in June of 2017, when he was 2 years old, was discovered to have the genetic mutation for ALD. After receiving medical information from her biological father’s side of the family, Sydne learned that she is a carrier of ALD as well. She lives in Illinois, which currently does not have ALD on the newborn screening panel. She has worked to help bring ALD newborn screening to Illinois, and is proud to say Illinois will start testing in July 2019. She is active in attending rare disease conferences all over the United States, and is very grateful to be a part of an organization like Remember The Girls, where there is proof in the power in numbers! Her goal is to keep all of the affected families educated, connected, and feeling like we are all supporting each-other in all stages of rare diseases.
Frani is a carrier of X-linked adrenoleukodystrophy. Her diagnosis came after her mother was diagnosed with ALD following over 20 years of misdiagnosis. In addition to Frani and her mom, four other members of their family are afflicted with ALD - Frani's two brothers, her daughter, and her son.
Frani testified before the Texas House of Representatives to advocate for newborn testing for ALD and is working with the Texas Department of State Health Services in advance of implementation. She and her family recently founded a charitable organization, Arrivederci ALD, to raise funds for promising research in the hopes of finding more treatments and, ultimately, a cure for this disease.
As a daughter of a carrier, a mother to a carrier, and a carrier herself, Frani is dedicated to bringing awareness to the fact that carriers are patients in their own right and face unique medical and personal challenges.
Frani is an education lawyer in Texas and has been representing public and private school districts for the past 13 years.
Julia is a licensed social worker who currently works as a mental health therapist in community mental health setting. As a social worker, she is driven toward advocacy, and as a carrier of Fragile X Syndrome she is acutely aware of the challenges carriers face.
Julia’s brother was born when she was 5-years old. When she was 8-years old she learned that she and her mother were carriers and her brother had Fragile X Syndrome. When Julia was in middle school, she experienced clinical depression and anxiety, which she learned were common traits in carriers of Fragile X Syndrome. This was the beginning of her journey to discover how Fragile X could affect carriers in a much bigger way than just needing expanded reproductive options.
Julia does advocacy writing about her journey as a carrier and as a person with disorders common in carriers for The Mighty, a disability advocacy website. It was through her writing that she became connected with Remember the Girls, and continues her journey with them.
As Fragile X Syndrome is the leading genetic cause of autism, Julia also has an interest in advocacy and research around autism. She served on the Tuscaloosa Junior Board of the Autism Society of Alabama for a term. She also presented autism research during a poster session at the Alabama Counseling Association Conference as an undergraduate student.
Ann Kendall, M.A., is a member of the English faculty at Heritage University in Toppenish, WA and currently lives with her family in the Washington, DC area. Ann has worked in the nonprofit sector in the fields of human services, the arts and architecture for over 20 years. Ann has strong ties to the bleeding disorders community and currently serves as Co-Chair of the Advocacy Committee for the Virginia Hemophilia Foundation/Hemophilia Association of the Capital Area; in addition, Ann writes a regular column for Hemophilia News Today, “Stories from the Road.”
Ann learned about hemophilia on her first date with her husband, David, when he casually mentioned it while they were heading out to a movie. Prior to having their daughter, they were assured by specialists that their daughter may be a carrier but would not have the condition. Fast forward to a three-month old baby with bruised feet and Ann and David learned some tough lessons when their pediatrician at that time refused to test their baby girl’s factor levels. From there it took six years to receive their daughter’s diagnosis, with plenty of injuries during those years. They learned after testing that their daughter’s factor levels were nearly identical to David’s – yet she initially received the diagnosis of symptomatic carrier. Even at that, they still felt luck as most women wait 16 years or more for any diagnosis. Fast forward to 2019, and while many women with hemophilia are still labeled “just carriers” or “symptomatic,” change does seem to be on the horizon with women leading the way for equality in diagnosis and treatment.
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